Root of all terms in the Human Phenotype Ontology.
Deviation from the norm of height with respect to that which is expected according to age and gender norms.
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound.
The pattern in which a particular genetic trait or disorder is passed from one generation to the next.
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
An abnormality of the female internal genitalia.
Abnormality of female internal genitalia
Repeated infections of the urinary tract.
The urinary tract comprises the kidneys, ureters, a bladder, and a urethra.
A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.
Lack of bladder control due to nervous system injury
Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause.
Urge incontinence is the strong, sudden need to urinate.
Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity.
Diverticulum (sac or pouch) in the wall of the urinary bladder.
Inability to completely empty the urinary bladder during the process of urination.
Increased post-void residual urine volume
Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic.
Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
Often occuring as a result of heart insufficiency.
Difficulty in beginning the process of urination.
Loss of the ability to control the urinary bladder leading to involuntary urination.
Urinary incontinence can be defined as the complaint of any involuntary leakage of urine.
An abnormality of the male internal genitalia.
The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate.
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Inguinal hernia appears as a bulge in the groin.
The presence of inflammation of the prostate.
Functional abnormality of male internal genitalia
Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.
Absence of any measurable level of sperm in his semen.
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.
Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.
The presence of a gonadoblastoma of the testis.
The presence of inflammation of the epididymis.
An abnormality of male external genitalia.
Ambiguous genitalia in an individual with XY genetic gender.
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
An anomaly of the testicle (the male gonad).
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
Displacement of the urethral opening on the dorsal (superior) surface of the penis.
Epispadias may be present in a phenotypic male, female, or an individual with ambiguous genitalia. A meatus in a phenotypic male may be positioned either on the glans (glandular or balanic epispadias), the shaft (penile epispadias) or at the attachment of the penis to the abdominal wall (penopubic epispadias). Alternatively, the urethra may be an open groove along the dorsal shaft of the penis, with no readily recognized meatus. Epispadias is a frequent component of Bladder exstrophy, but should be coded separately.
Penile length more than 2 SD above the mean for age.
Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans.
Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.
The degree of variation of penis curvature is a continuum, but traditionally 30 degrees is considered the threshold for surgical intervention on chordee. Bowing usually becomes more obvious in an erect penis, but is frequently also palpable when stretching a flaccid penis. Chordee can be congenital or acquired; if the former, it can be associated with Webbed Penis or Hypospadias, which should be coded separately.
Lack of external genitalia in a male or female individual.
Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Low gonadotropins (secondary hypogonadism)
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Midline indentation or cleft of the scrotum.
A testis may or may not be present in each half of the scrotum.
Superior margin of the scrotum superior to the base of the penis.
A congenital overriding scrotum may disappear with growth and development, especially during puberty. If the entire scrotum is located superior to the penis, the term Penoscrotal transposition is used instead.
Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).
Hypospadias with location of the urethral meatus in the perineal region.
Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.
The presence of abnormally large testes.
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
An abnormality of the female external genitalia.
Abnormality of female external genitalia
An anomaly of the labia, the externally visible portions of the vulva.
Developmental hypoplasia of the clitoris.
Ambiguous genitalia in an individual with XX genetic gender.
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Note that this term can include or combine variations in size and shape, with partial or complete absence of structures. It is preferable to describe the individual components, which are defined below. It is nonetheless a widely used bundled term and as such is retained here. The distinction of this finding from a marked degree of Hypospadias is an example of how this term can be problematic. Genetic gender is determined at fertilization, whereby the presence of a Y chromosome determines male gender. Normally, genetic gender determines gonadal gender which in turn determines phenotypic gender. Testicular development is an active process requiring expression of the primary testis determining gene SRY, which is located on the Y chromosome.
Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.
Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.
Congenital anomaly characterized by closure or failure to develop an opening in the urethra.
A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
The presence of a stenotic, i.e., constricted ureter.
The distention of the ureter with urine.
A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.
Blockage of urine flow from the renal pelvis to the proximal ureter.
A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.
Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.
The kidney is a paired organ whose primary function is the production of urine.
An abnormal functionality of the genital system.
Abnormality of reproductive system physiology
A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.
Double urinary collecting systems on intravenous pyelography
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
A developmental defect in which a kidney is located in an abnormal anatomic position.
Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal.
Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli.
The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine.
The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.
Increased levels of protein in the urine.
Abnormality of renal glomerulus morphology
Accumulation of scar tissue within the glomerulus.
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Focal and segmental glomerular sclerosis
A height above that which is expected according to age and gender norms.
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h.
An excessive volume of urination for an adult is more than 2.5 liters of urine per day.
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Renal agenesis can occur as a unilateral or bilateral trait.
An abnormal increase in the size of the kidney.
The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. There are several ways of diagnosing enlarged kidney including intravenous urography.
The presence of multiple cysts at the border between the renal cortex and medulla.
The presence of developmental dysplasia of the kidney.
Increased number and size of the juxtaglomerular cells.
Renal juxtaglomerular cell hypertrophy/hyperplasia
A nonspecific term referring to disease or damage of the kidneys.
The presence of multiple cysts in both kidneys.
Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys.
Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.
High urine phosphate in the presence of hypophosphatemia.
Decreased renal tubular phosphate reabsorption
Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate
This is the root of the phenotypic abnormality subontology of the HPO.
The presence of any abnormality of the genitourinary system.
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
Nephrocalcinosis can be intratubular or interstitial, and can be diagnosed by means of a radiologic exam (plain radiographs, ultrasonograms, or computed tomography scans) or via microscopic examination of the renal tissues. The term nephrocalcinosis most often applies to a generalized increase in renal calcium content.
A unilateral form of agenesis of the kidney.
The presence of inflammation affecting the kidney.
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Abnormal function of filtrating structures in kidney
A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed.
A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).
High urine potassium in the presence of hypokalemia.
A urine potassium assay can be used to determine the cause of reduced serum potassium (hypokalemia). Normally, the kidney will reabsorb more potassium in the presence of hypokalemia. Therefore, a low urine potassium can suggest gastrointestinal potassium loss, poor dietary intake, or a shift of potassium from the extracellular to the intracellular space. On the other hand, a high urine potassium in the face of low serum potassium indicated renal loss, referred to as renal potassium wasting.
The presence of a leiomyoma of the uterus.
Leiomyoma is a benign neoplasm derived from smooth muscle cells.
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Abnormally heavy bleeding during menstruation
Decreased functionality of the female gonads, i.e., of the ovary.
Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones.
A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts.
The presence of one or more cysts of the ovary.
The uterus (womb) is normally held in place by a muscles, tissue and ligaments. If these tissues can no longer support the uterus it can slip down from its normal position.
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Any structural abnormality of the vagina.
The presence of a fistula between the vagina and the rectum.
Abnormal connection between rectum and vagina
Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.
The presence of a gonadoblastoma of the ovary.
Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with an intersex disorder or disorder of sex development.
The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft.
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.
Increased length and width of the tongue.
Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue.
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces microstomia, small oral aperture, and small mouth because the reduced opening of the mouth is secondary to reduced width.
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway.
Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.
Any abnormality of the primary (deciduous) or permanent teeth.
Any abnormality of the gingiva (also known as gums).
The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth.
The presence of fibrosis of the gingiva.
Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported.
Decreased length and width of the tongue.
Normal standards do not exist. The term aglossia is often used for extremely small tongue, but a nubbin of tongue tissue is almost always present and aglossia in sensu strictu is extremely rare. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained.
Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.
Any abnormality of the palate, i.e., of roof of the mouth.
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately.
Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.
Lobulated tongue can bilobed, trilobed, or show multiple lobes.
Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.
Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).
Decreased transverse dimension of palate
Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow.
An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.
A frenulum is a small frenum. There are several frena that are usually present in a normal oral cavity, most notably the maxillary labial frenum, the mandibular labial frenum, and the lingual frenum.
Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.
This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately.
Uvula separated into two parts most easily seen at the tip.
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Depression located on the vermilion of the lower lip, usually paramedian.
A lip pit may be connected by a fistula to mucous minor salivary glands in the lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.
The presence of an abnormally short lingual frenulum.
Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.
The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.
The presence of a triangular form of the mouth.
Limitation in the ability to open the mouth.
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
This finding is to be distinguished from overgrowth of the alveolar ridge.
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.
Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).
Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual.
Dryness of the mouth due to salivary gland dysfunction.
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and applied inaccurately.
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
Accentuation of the grooves on the dorsal surface of the tongue.
Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children.
The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems.
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.
Presence of telangiectases in the oral cavity.
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
In frontal view, with the face relaxed, the apparent height of the lower lip vermilion is excessive and the lower incisors may be visible. On profile view, the vermilion is more convex than usual. An everted lower lip may be viewed as pouting, but this designation is a functional term.
Reduced width of the skin of vermilion border region of upper lip.
The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face.
Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments ).
Fontanels are the fibrous, membrane-covered gaps created when more than two cranial bones are juxtaposed, as opposed to sutures, which are narrow seams of fibrous connective tissue that separate the flat bones of the skull. At birth, an infant has six fontanels (the anterior and posterior, two mastoid, and two sphenoid). The anterior fontanel is the largest and most important for clinical evaluation. The average size of the anterior fontanel is 2.1 cm, and the median time of closure is 13.8 months.
Abnormality of the fontanelles or cranial sutures
An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.
Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Too much cerebrospinal fluid in the brain
Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel).
Any abnormality of the size of the skull.
Parietal bossing is a marked prominence in the parietal region.
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture.
Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.
Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.
Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately.
An abnormal increase of density of the bones making up the calvaria.
Head circumference below 2 standard deviations below the mean for age and gender.
Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean.
Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex.
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape.
Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.
An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.
Abnormality of mastoid process of temporal bone
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped).
Increased convexity of the occiput (posterior part of the skull).
Increased convexity of the occiput gives an appearance of prominence. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Dolichocephaly, but this should be coded separately.
Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy.
A face that is short (HP:0011219) and narrow (HP:0000275).
This term represents a combination of two terms, short face and narrow face.
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible.
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face.
Any abnormality of the mandible, the bone of the lower jaw.
An abnormality in which the mandible is mislocalised posteriorly.
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Thickened facial skin with coarse facial features
Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).
Note that broad face is distinct from round face.
obsolete Abnormality of the ocular region
A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris.
An increased amount of subcutaneous fat tissue in the face.
Increased amount of facial adipose tissue
Increased volume of facial adipose tissue
Abnormality of the infranasal depression
The paralabial region is the region surrounding the lips and includes the philtrum.
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Increased horizontal dimension of philtrum
Increased transverse dimension of philtrum
The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum.
Abnormality of the frontal region of the face
Loss of normal subcutaneous fat tissue in the face.
Decreased amount of facial adipose tissue
Decreased volume of facial adipose tissue
Loss of facial subcutaneous adipose tissue
Loss of subcutaneous adipose tissue from face
Increased prominence or roundness of soft tissues between zygomata and mandible.
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.
This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair.
A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.
This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely.
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
A lack of facial expression often with staring eyes and a slightly open mouth.
Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy.
A face with a rounded and slightly elongated outline.
An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure.
Abnormal prominence of the chin related to increased length of the mandible.
An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.
A marked tapering of the lower face to the chin.
The two rami of the mandible meet at an acute angle.
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.
The facial appearance is more circular than usual as viewed from the front.
Abnormality of the region around the eyes
Anomaly of the orbital region of the face
Deformity of the orbital region of the face
Malformation of the orbital region of the face
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes.
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.
Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Decreased vertical dimension of philtrum
An abnormal difference between the left and right sides of the face.
Asymmetry of right and left side of face
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
An abnormality of the Maxilla (upper jaw bone).
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.
Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.
The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead.
A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.
The movement and position of facial muscles are often interpreted as expressing emotions. Individuals with hypomimic face may be perceived as expressing less emotion than normal.
Coarse facial features reminiscent of those of a boxer.
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical.
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow.
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Increased vertical dimension of philtrum
An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.
Developmental hypoplasia of the mandible.
Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.
An abnormally increased height of the forehead.
Frontal hairline with bilateral arcs to a low point in the midline of the forehead.
The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline.
The presence of a forehead that is abnormally small.
Decreased size of frontal region of face
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age.
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
obsolete Pulsatile tinnitus (tympanic paraganglioma)
In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.
Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing.
An abnormality of the sensory perception of sound.
According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear.
A decreased magnitude of the sensory perception of sound.
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing.
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately.
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Acute otitis media is a short and generally painful infection of the middle ear.
An abnormality of the External acoustic tube (also known as the auditory canal).
The cochlea is an inner ear structure comprised of a snail-shell like structure divided into three fluid-filled parts. Two are canals for the transmission of pressure and in the third is the organ of Corti, which detects pressure impulses and responds with electrical impulses which travel along the auditory nerve to the brain.
IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.
Incomplete partition of the cochlea type II
An abnormality of the pinna, which is also referred to as the auricle or external ear.
The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.
Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).
Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).
Stapes ankylosis may be congenital or acquired, in which case it is referred to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed.
Abnormality of the region around the ear
Malformation of the periauricular region
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).
All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable.
Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
Inflammation or infection of the middle ear.
Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.
Increased thickness of the helix of the ear.
Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.
The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal.
The presence of an abnormally prominent antihelix.
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable.
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
Prelingual sensorineural hearing impairment
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
An abnormal narrowing of the external auditory canal.
Narrowing of passageway from outer ear to middle ear
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
A conductive hearing impariment with greater than 90 dB loss.
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).
A progressive form of sensorineural hearing impairment.
Bilateral progressive sensorineural hearing loss
Hearing loss, sensorineural, bilateral, progressive
Hearing loss, sensorineural, progressive
Progressive bilateral sensorineural hearing loss
Progressive sensorineural hearing impairment
A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Absence or failure to form of the external auditory canal.
Increased volume and globular shape of the anteroinferior aspect of the nose.
This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
Abnormality of the choanae (the posterior nasal apertures).
This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately.
Reduced superior to inferior length of the nasal septum.
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.
The nasal root is the most depressed, superior part of the nose along the nasal ridge.
Anterior positioning of the nasal root in comparison to the usual positioning for age.
A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately.
Malformation of the nasal alar cartilage
The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris.
Thinned, deficient, or excessively arched ala nasi.
The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a Cleft ala nasi, but have a severely underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed.
Increased breadth of the nasal bridge (and with it, the nasal root).
Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately.
Telangiectasia of mucous membrane of nose
The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane.
Decreased distance from the nasal tip to the nasal base.
This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately.
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Decreased width of the bony bridge of the nose.
The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age.
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Abnormal narrowing of the choana (the posterior nasal aperture).
Narrowing of the rear opening of the nasal cavity
Absence or abnormal closure of the choana (the posterior nasal aperture).
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.
A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.
This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
The adjective 'depressed' here does not indicate an active process but a status. The feature should be assessed in a profile view. This finding is typically associated with a Short columella, but this should be assessed separately.
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.
Note: a small nose has both decreased height and a decreased width. These should be coded separately.
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
Decreased strength of the neck musculature.
An increased amount of subcutaneous fat tissue around the neck.
Increased adipose tissue around the neck
Dysplasia affecting the vasculature of the gastrointestinal tract.
Increased inferior-superior length of the neck.
Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.
The word torticollis comes from Latin words meaning twisted neck. Spasmodic torticollis is a focal dystonia that affects the neck and sometimes the shoulders, leading to involuntary contractions of the neck muscles, abnormal movements and postures of the head and neck. The abnormal movements can have both tonic and clonic components and can results in pain and discomfort. Spasmodic torticollis is the most common focal dystonia.
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637).
A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org).
Increased side-to-side width of the neck.
Cystic hygroma refers to a cystic lymphatic lesion, that can in principle occur anywhere in the body, but is most commonly seen in the head and neck region. The term 'Cystic hygroma' alone is generally used to refer to cystic hygroma of the neck.
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Cornea of eye less than 10mm in diameter
Note that the cornea's diameter is normally about 9.5-10.0 mm at birth and reaches 10.0-12-5 mm in adulthood.
A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.
Abnormal curving of the cornea or lens of the eye
The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision.
A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.
An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
obsolete Abnormality of globe location or size
An eye that is more deeply recessed into the plane of the face than is typical.
This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.
The palpebral fissure inclination is more than two standard deviations below the mean.
Antimongoloid slant of palpebral fissures
Antimongoloid slanted palpebral fissures
Downward slanting of the opening between the eyelids
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Recurrent breakdown of clear protective layer of eye
An abnormality in voluntary or involuntary eye movements or their control.
Abnormal motility of the globe of the eye
Abnormal movement of the globe of the eye
Globe retraction and deviation on abduction
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population.
The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva).
The presence of an increased number of twists and turns of the conjunctival blood vessels.
Abnormality of eyesight (visual perception).
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Increased distance between medial canthi
Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are not necessarily widely spaced.
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Retinitis pigmentosa is a group of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience.
A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
Vertical gaze palsies can manifest as selective limitation of upgaze or downgaze.
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG.
An abnormally slow velocity of the saccadic eye movements.
Saccades are rapid eye movements that align the fovea with the target.
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity).
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.
Clouding of the lens of the eye at birth
In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face.
Alacrima is generally a congenital deficiency.
A cataract that affects the region of the lens directly beneath the capsule of the lens.
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.
Small dilated blood vessels near membrane covering front of eye and eyelids
An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.
Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Measurement should be done on the longest lashes, which are usually at the center of the lid. Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. Note that Eyelash trichomegaly is defined as increase in length (12 mm or more), curling, pigmentation or thickness of eyelashes.
Clinical anophthalmia, unilateral/bilateral
A reduction of previously attained ability to see.
An abnormality of the choroid and retina.
The choroid is the vascular layer of the eye, located between the retina and the sclera.
Atrophy of the choroid and retinal layers of the fundus.
Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines. Choroidal sclerosis is a term used to describe a group of genetically heterogeneous retinal dystrophies that share a common funduscopic phenotype of scalloped, well-circumscribed, and confluent chorioretinal atrophic lesions that extend beyond the macula. The term choroidal sclerosis was initially coined because of the sclerotic appearance of choroidal vessels which frequently appear white or light-yellow. However, histologic studies have demonstrated the term to be a misnomer as the principle abnormality is the loss of choriocapillaris, retinal pigment epithelium (RPE), and the outer retina in the absence of abnormal sclerotic changes in the choroidal vasculature. Therefore, we are making choroidal sclerosis a synonym of chorioretinal atrophy.
Decreased density/number and/or decreased diameter of eyebrow hairs.
Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate.
A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
Apparent optic disc swelling in the absence of increased intracranial pressure.
Papilledema is disc edema secondary to increased intracranial pressure.
An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
The American Optometric Association subdivides hypermetropia into (i) low (up to +2D), moderate (2 to 5D), and high (over 5D).
Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Reduced ability to move the eye in the direction of the nose.
Contraction of the medial rectus pulls the eye towards the nose (adduction or medial movement).
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. The pallor reflects replacement of dead axons by glial tissue. The loss of the small capillaries within the nerve accounts for the shift from orange-pink to white.
Paralysis of the external ocular muscles.
Chronic progressive external ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
Progressive paralysis or weakness of muscles of eye motility
Progressive paralysis or weakness of muscles of eye movement
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.
Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.
Lack of any response to stimulation upon electroretinography.
No light-evoked response on electroretinogram
An anomaly in the ability to discriminate between or recognize colors.
Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.
An abnormality of the uvea, the vascular layer of the eyeball.
Inflammation of one or all portions of the uveal tract.
The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
An abnormal white reflection from the pupil rather than the usual black reflection.
The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma).
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Breakdown of light-sensitive cells in back of eye
Diffusely large eye (with megalocornea) associated with glaucoma.
Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched.
A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.
Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea.
Often this finding is congenital and associated with alopecia universalis, but this should be coded separately.
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
Keratoconus is an entity characterid by several phenotypic findings such as corneal distortion (secondary to thinning of the apex) and either Fleischer's ring or Vogt's striae. This HPO term intends to denote the finding of corneal distortion and bulge.
A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Esotropia is analogous to but more severe thatn esophoria. Affected children are more likely to have amblyopia or require corrective eye muscle surgery than children with esophoria.
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Birth defect that causes a hole in the innermost layer at the back of the eye
A developmental anomaly characterized by abnormal smallness of one or both eyes.
An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.
Fast (saccadic) eye movements comprise voluntary or involuntary refixation movements, the fast phase of vestibular nystagmus, optokinetic nystagmus, and microsaccades.
Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
Loss of visual acuity (implying that vision was better at a certain timepoint in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
The type of retinal hemorrhage and its clinical appearance depends on its location within the retina.
Increased density/number and/or increased diameter of eyebrow hairs.
Thickness can be regional (medial, middle/central, lateral) or total.
A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.
A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.
A form of strabismus with one or both eyes deviated outward.
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively.
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Upward slanting of the opening between the eyelids
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
Reduced depth of the orbits associated with prominent-appearing ocular globes.
The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
A cleft of the optic nerve that extends inferiorly.
A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure.
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.
Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term.
Abnormality of the outer white part of eyeball
An abnormal bluish coloration of the sclera.
Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
Weakness of muscles controlling eye movement
Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.
Abnormality of hairline at front of head
An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.
The pharynx is tubular structure extending from base of skull superiorly to esophageal inlet inferiorly, and is composed of three distinct areas: the nasopharynx, the oropharynx, and the hypopharynx, with the pharyngeal walls being composed of the superior, middle, and inferior pharyngeal constrictor muscles. It is part of the digestive system and of the conducting zone of the respiratory system.
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Paralysis of one or more extraocular muscles that are responsible for eye movements.
An area of depressed vision located at the point of fixation and that interferes with central vision.
A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
An abnormality of the region situated around the orbit of the eye.
Abnormality of the region around the eye
Abnormality of the region around the eye socket
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Any structural abnormality of the choroid.
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Extreme sensitivity of the eyes to light
Note that the term photodysphoria is used to describe extreme photophobia.
An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.
The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct.
Abnormal (non-physiological) constriction of the pupil.
An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
Impaired smooth pursuit ocular movements
Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea.
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degress in radius around central fixation.
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source.
Reduced ability to turn the eyes inward in order to focus on a nearby object.
Vergence alters the angle between the two eyes to adjust for changes in distance from the visual target.
Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. Note also that dacryocystistis has often been misspelled as dacrocystitis in the literature, but the correct spelling is dacryocystitis.
An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.
The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon.
Lack of sharpness of vision resulting in the inability to see fine detail.
This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible.
A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
A short discontinuity of the margin of the lower or upper eyelid.
The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral.
A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.
Schwalbe's line is the anatomical line found on the interior surface of the cornea, and delineates the outer limit of the corneal endothelium layer. Specifically, it represents the termination of Descemet's membrane. Up to 30% of the population has posterior embryotoxon as an isolated normal variant.
The presence of an increased number of twists and turns of the retinal artery.
Abnormally decreased lacrimation, that is, reduced ability to produce tears.
An impaired ability of the eye to move in the outward direction (towards the side of the head).
A short discontinuity of the margin of the upper eyelid.
Full thickness defect of the upper eyelid
Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Involuntary, rapid, rhythmic eye movements
Nystagmus made apparent by looking to the right or to the left.
The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.
Difficulty with discriminating red and green hues.
Dyschromatopsia with red-green confusion
A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes.
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion.
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
The terms visually evoked potential (VEP), visually evoked response (VER) and visually evoked cortical potential (VECP) are equivalent.
Abnormal amplitude of pattern reversal visual evoked potentials
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
A short discontinuity of the margin of the lower eyelid.
Full thickness defect of the lower eyelid
Descreased amplitude of eletrical response upon electroretinography.
Decreased amplitudes on flash visual electroretinogram
Decreased light- and dark-adapted electroretinogram amplitude
An outward turning (eversion) or rotation of the eyelid margin.
Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid.
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex.
Defective or absent horizontal voluntary eye movements
Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements.
A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.
Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter).
Palpebral fissure narrowing on adduction
Inability to see well at night or in poor light.
Meeting of the medial eyebrows in the midline.
Nystagmus consisting of horizontal to-and-fro eye movements.
Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
Phthisis bulbi refers to atrophy and degeneration of a blind eye.
A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Failure of development of between one and six teeth
Hypodontia refers to a reduced number of primary or permanent teeth. Hypodontia may affect either both primary and permanent teeth or only the permanent teeth. Wisdom teeth (the third secondary maxillary and mandibular molar teeth) are not included in this count.
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
Anodontia can affect both primary and permanent teeth. Alternatively, there can be anodontia of just the permanent teeth. Anodontia must be distinguished from non-erupted teeth.
Increased size of the maxillary central secondary incisor tooth.
Hyperplasia of permanent maxillary central incisor
Hypertrophy of permanent maxillary central incisor
Increased size of permanent maxillary central incisor
Increased size of permanent upper central incisor
Large permanent maxillary central incisor
Increased width of permanent maxillary central incisor
Increased width of permanent upper central incisor
Macrodontia of permanent maxillary central incisor
A developmental anomaly characterized by a reduced number of teeth, whereby more than 6 teeth are missing.
Failure of development of more than six teeth
Number of teeth decreased by more than six
The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001].
Overlapping teeth within an alveolar ridge.
Increased volume of dental pulp of permanent molar.
Body of the tooth and pulp chamber is enlarged.
Delayed tooth eruption affecting the primary dentition.
The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite.
A grey discoloration of the dental enamel.
Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present.
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.
This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema.
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Incorrect relation between upper and lower dental arches
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.
Failure of development of maxillary lateral incisor
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately.
Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.
A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.
Teeth with thin dentin and large pulp chambers
Teeth with type iii dentinogenesis imperfecta
Delayed tooth eruption affecting the secondary dentition.
An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.
Increased space between two adjacent teeth in the same dental arch.
Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth.
Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions.
This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
A developmental dysplasia of the dental enamel.
Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations.
The presence of one or more embedded tooth germs which have failed to erupt.
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.
A tendency or compulsion to examine objects by mouth.
A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress.
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances.
A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension.
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
The term refers to the diagnosis of autism and is left for convenience. However, it is preferable to annotate the exact phenotypic abnormalities rather than merely the diagnostic category autism.
Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels.
Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV).
Behavior characterized by an abnormal limitation to few interests and activities.
Restrictive behavior, interests, and activities
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Impaired ability to form peer relationships
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome.
Inflexible adherence to routines or rituals
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. The behaviour does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps.
A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment.
Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives.
Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.
Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space.
Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control.
Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable.
An anxiety attack may manifest with one or more of the following symptoms: (i) breathing difficulty; (ii) palpitations; (iii) a feeling of unreality; (iv) pains or tightness in the chest; (v) trembling, dizziness or feeling unsteady; (vi) sweating; (vii) a feeling of faintness; (viii) a fear of dying; (ix) a feeling of losing control; (x) tingling in hands and feet (parasthesiae); (xi) choking or smothering feelings.
Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.
The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors.
A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.
A belief that is pathological and is held despite evidence to the contrary.
A degree of language development that is significantly below the norm for a child of a specified age.
Impaired speech and language development
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation.
An abnormal shift in patterns of thinking, acting, or feeling.
This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations.
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather.
Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.
A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).
Abnormal peripheral nervous system morphology
The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves.
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy.
Peripheral neuropathy affecting the sensory nerves.
Progressive deterioration of peripheral axons.
This finding is typically demonstrated by nerve biopsy.
Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).
An anomaly of the sternum, also known as the breastbone.
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Abnormal development of large mammary glands in males resulting in breast enlargement.
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Reduced anterior-posterior chest diameter
Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.
The presence of a hernia of the diaphragm present at birth.
Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period.
Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.
Any abnormality of the scapula, also known as the shoulder blade.
The presence of calculi (stones) in the kidneys.
Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter.
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
The presence of uric acid-containing calculi (stones) in the kidneys.
A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity
Membranoproliferative glomerulonephritis
The presence of immunoglobulin A deposits in the glomerulus.
An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.
Obstruction of the flow of urine through the urethra.
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Abnormal fat accumulation in the kidneys.
Inability to develop or maintain an erection of the penis.
The presence of xanthine-containing calculi (stones) in the kidneys.
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.
Congenital absence of the normal opening of a structure of the urinary tract.
An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
An abnormality of the tricarboxylic acid cycle.
Difficulty in looking at another person in the eye.
Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication.
The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions.
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
The presence of chronic increased pressure in the systemic arterial system.
Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both.
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
The age at which delayed puberty may be diagnosed in a person without signs of secondary sexual development is 13 years in a girl or 14 years in a boy.
Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.
The effects of growth hormone are mediated almost exclusively by insulin-like growth factor 1(IGF-1), which is produced primarily in the liver. Growth hormone deficiency refers to inadequate levels of GH (and therefore IGF-1), resulting in growth retardation in children and metabolic disturbances in adults.
An increased concentration of insulin combined with a decreased concentration of glucose in the blood.
Hyperinsulinemic hypoglycemia describes a situation in which the level of insulin is inappropriate for the low level of blood sugar.
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
An abnormality of the parathyroid gland.
There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone.
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.
A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
A type of hypothyroidism that results from a defect in the thyroid gland.
Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.
Developmental hypoplasia of the adrenal glands.
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.
Increased circulating gonadotropin level
A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.
Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.
An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.
If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume.
An increased concentration of insulin in the blood.
Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Elevated blood parathyroid hormone level
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Disorder resulting from excess pituitary gland production of growth hormone (hGH).
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation.
An abnormality of the renin-angiotensin system.
Abnormality of the renin-aldosterone axis
The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance.
An increased level of renin (PRO:000013883) in the blood.
A type of hypothyroidism with congenital onset.
A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.
The presence of a adenoma of the thyroid gland.
Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Neonatal insulin-dependent diabetes mellitus
Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.
Developmental hypoplasia of the parathyroid gland.
A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.
Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.
Abnormality of the hypothalamus-pituitary axis
Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.
Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism.
The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
A chronic, autoimmune type of thyroiditis associated with hypothyroidism.
A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).
Infrequent menses (less than 6 per year or more than 35 days between cycles).
Insulin-resistant diabetes mellitus at puberty
Decreased inferosuperior length of the sternum.
A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.
Any abnormality of the clavicles (collar bones).
A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.
Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.
The costochondral junction is the structure where the ribs articulate with the sternum.
An excessive upward convexity of the lateral clavicle.
Multiple circumscribed bony excrescences located in the ribs.
A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.
Nutritional rickets (NR), secondary to vitamin D deficiency and/or dietary calcium deficiency, is characterized by a range of features including 1) hypocalcemic seizures and tetanic spasms; 2) life-threatening hypocalcemic cardiomyopathy; 3) bone pain and muscle weakness; 4) limb and pelvic deformities; 5) failure to thrive; 6) developmental delay; and 7) dental anomalies. Rickets can additionally be caused by genetic defects such as a defect in the vitamin D receptor gene.
Complete or partial merging of adjacent ribs.
The presence of wide, concave anterior rib ends.
Progressive bone resorption in the distal part of the clavicle.
Progressive acroosteolysis of the clavicle
Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa.
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Congenital, upward displacement of the scapula
Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible.
Complete or partial merging of the posterior part of adjacent ribs.
Stretching of the thoracic cage as a result of fetal edema may contribute to the shield chest with widely spaced nipples that can be obsered in persons with Turner syndrome.
Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.
Increased width (cross-sectional diameter) of the clavicles.
Pectus carinatum affecting primarily the superior part of the sternum.
The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.
Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum.
Abnormality of the costochondral junction
Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Enlargement of the costochondral junction
A developmental anomaly with absence of one or more ribs.
The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage.
Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children.
Any abnormality of the vertebral column.
A flattened vertebral body shape with reduced distance between the vertebral endplates.
The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.
An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Elevated imprint of occipital bone over the transverse sinuses
Elevated imprint of posterior skull bones over the transverse sinuses
Thinning and bulging of occipital bone over the transverse sinuses
Thinning and bulging of posterior skull bones over the transverse sinuses
Elevated imprint of the transverse sinuses
Thinning and bulging of posterior fossa bones
Thinning and bulging of posterior skull bones
Thinning and bulging of occipital bone of skull
Thinning and bulging of the posterior fossa bones
An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.
This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography.
Abnormality of the posterior cranial fossa
Posterior fossa cyst at the fourth ventricle
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Abnormal thickening of the cortex of long bones.
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures.
An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.
Abnormality of the wide portion of a long bone
An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.
Dumbbell widening of long bone metaphyses
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
A darkening of the skin related to an increase in melanin production and deposition.
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
The presence of a single palmar crease (instead of the two palmar creases that are typically present).
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia.
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
Skin characterized by the lack of natural or normal moisture.
A subtype of skin dimples presenting as an indentation in the skin of the intergluteal cleft .
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis.
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather.
Abnormally diminished capacity to sweat.
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.
This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future.
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability.
Any structural abnormality of the sweat gland.
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Thickening of the outer layer of the skin of the palms and soles
Wrinkled, redundant, inelastic and sagging skin.
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds.
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Ther terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather.
Subjective impression of increased softness upon palpitation of the skin.
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
An ecchymosis is defined as being larger than 1 cm in size.
Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.
Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm).
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.
Melanocytic nevi are commonly known as moles. The majority of moles appear during the first 20 to 30 years of a person's life, however, some may be present when the baby is born. The average human has from 10 to 14 moles. Moles can develop on the scalp, under the nails, armpits, virtually anywhere on the body. The total number of moles a person can have usually varies during his or her lifetime.
Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.
The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Any manifestation of a skin disease associated with the production of pus.
Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions.
An abnormality of the pigmentation of the skin.
Abnormality of fatty tissue below the skin
Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.
Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands.
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
Swelling caused by excess lymph fluid under skin
Dermatological manifestations of systemic disorders
Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place.
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Accumulation of melanosomes in melanocytes
Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.
A reduction of skin color related to a decrease in melanin production and deposition.
obsolete Diaphoresis (with pheochromocytoma)
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children.
Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.
Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia.
A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot.
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
A type of pallor that is secondary to the presence of anemia.
An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.
An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.
Red scaly skin caused by inflammatory skin disease
An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).
Skin dimple over apex of long bone angulation
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.
Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes.
Skin that splits easily with minimal injury.
Absence of the distal interphalangeal flexion creases of the fingers.
Absence of skin creases over distal interphalangeal joints
Aplasia of the distal interphalangeal creases
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis.
Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.
Jaundice that is sometimes present, sometimes not.
Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.
In infants, atopic dermatitis is known as infantile eczema.
The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.
Collection of dilated blood vessels that forms mass
Absent dorsal skin creases over affected joints
Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.
A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.
Port-wine stains generally become deeper, thicker, and darker in color over time, mainly as a result of progressive vascular dilatation. As a result of these changes, which are generally much more evident on the face, patients often develop hypertrophy and nodularity after the third or fourth decade of life. The fact that nodules are only found on the face and do not occur in childhood has led some authors to suggest that port-wine stains might actually be hamartomatous lesions.
Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.
Milia are a normal finding in newborn babies (40-50%), often occurring around the nose.
A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
A reduced ability to heal cutaneous wounds.
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Presence of a cutaneous membrane (flap) in the armpit.
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Acne can be a consequence of increased sebum production as a result of increased testosterone production (in males and females) during puberty. Blockage of hair follicles canresult from accumulating keratin and sebum, resulting in plug formation called microcomedone, which can enlarge just beneath the surface of the skin in the pore itself. It may become visible as a closed comedone (whitehead), a firm white papule. Further enlargement leads to an open comedone (blackhead). The comedones are not themselves inflammatory. Proprionibacterium acnes can induce inflammation, leding to an inflammed, red papule.
A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.
Macular and papular areas may be present within a single lesion (also described as a fried egg appearance). The terms atypical moles and dysplastic nevi are used interchangeably, regardless of clinical or histologic appearance.
Persistent blue color of hands, feet, or parts of face
Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.
The presence of multiple cutaneous neurofibromas.
Intermittent episodes of abnormally increased perspiration.
Cigarette-paper scars are atrophic scars in the skin at sites of minor lacerations over the knees, shins, and elbows.
Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.
Hard, pebble-like deposits that form within the gallbladder.
Gallstones range in size from as small as a grain of sand to as large as a golf ball. Cholesterol gallstones are the most common type of gallstone. Gallstones resulting from too much bilirubin in the bile are referred to as pigment stones.
The presence of inflammatory changes in the gallbladder.
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.
A grey opaque line which surrounds the margin of the cornea caused by lipid deposits.
Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.
The borders of the optic disc are normally clear and well defined upon fundoscopic examination. Papilledema is optic disc swelling that can lead to the blurring of optic margins and elevation of optic disc.
Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.
The presence of whitish spots in a ring-like arrangement at the periphery of the iris.
Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome).
Diffusely large eye (with megalocornea) without glaucoma.
Note that Increased size of palpebral fissues is not a synonym of this term.
No identifiable superior and/or inferior lacrimal punctum.
The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border.
The presence of developmental dysplasia of the optic nerve.
A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.
Inflammation of the cornea and conjunctiva.
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
Any structural abnormality of the fundus of the eye.
Heterochromia iridis is a difference in the color of the iris in the two eyes.
Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.
Angioid streaks result from breaks in a weakened Bruch's membrane.
A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.
The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light.
Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Increased pigmentation of the skin in the region surrounding the orbit of the eye.
Idiopathic cutaneous hyperchromia at the orbital region
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Ocular pigmentation is essential for normal vision, and persons with ocular albinism tend to have severely reduced visual acuity often associated with nystagmus, strabismus, and photophobia.
Degeneration of retinal ganglion cells and their axons.
The presence of xanthomata in the skin of the eyelid.
A polar cataract that affects the posterior pole of the lens.
A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.
Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.
A type of cataract that is not apparent at birth but that arises in childhood or adolescence.
Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral).
Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.
Any abnormality of the size or morphology of the cornea.
obsolete Aplasia/Hypoplasia of the choroid
Transient blurring of vision associated with the aura phase of migraine.
The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens.
Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.
Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin.
Inversion and rubbing of the eyelashes against the globe of the eye.
An abnormality of the cornea that is characterized by opacity of one or parts of the cornea.
Partial dislocation of the lens of the eye.
Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis).
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
A polar cataract that affects the anterior pole of the lens.
The presence of an increased number of twists and turns of the retinal arterioles.
Esotropia in which either eye may be used for fixation.
Alternating suggests that the patient may be using either eye to fixate (which means that you do not have the same one eye squinting all the time).
A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).
Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation).
A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.
A conical projection of the anterior or posterior surface of the lens.
Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).
obsolete Pigmentary retinal degeneration
Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.
Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema.
The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.
An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.
Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target.
The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.
An abnormality affecting one or both hands.
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip.
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Abnormally long and slender fingers ("spider fingers").
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ).
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
An abnormal structure of the first digit of the hand.
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.
An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand.
A developmental defect resulting in the presence of fewer than the normal number of fingers.
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3.
The gradual reduction in girth of the finger from proximal to distal.
The ability of the finger joints to move beyond their normal range of motion.
An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints.
Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately.
An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).
Ulnar deviation of the hand or of fingers of the hand
An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).
Abnormalities of placenta or umbilical cord
Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
Only one artery in umbilical cord instead of two
The umbilical cord normally has two arteries and one vein.
An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.
Abnormality of prenatal development or birth
Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality.
A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.
The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb.
The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.
Symphalangism affecting the distal phalanges of the hand
An abnormal structure of the tip (end) of a finger.
A soft tissue prominence of the ventral aspects of the fingertips. The term "persistent fetal fingertip pads" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.
The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.
Ossification of carpal bones occurs later than age-adjusted norms.
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers).
Spontaneous detachment (amputation) of an appendage from the body.
Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.
Interphalangeal joint flexion contractures
Interphalangeal joint contracture of finger
All of the metacarpal bones of the hand have a pointed proximal appearance.
Pointed proximal second through fifth metacarpals
obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits
An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.
Telangiectases in the area of the nails.
Syndactyly with fusion of fingers two and three.
With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.
The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending.
Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.
Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.
The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally.
Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
Shortened short tubular bones of the hand
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).
Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold.
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia.
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Mild and nonprogressive mental retardation
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Involuntary muscle stiffness, contraction, or spasm
Spasticity and weakness of the leg and hip muscles.
This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies.
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem.
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
A state of abnormally strong desire for sleep during the daytime.
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication.
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Reduction of neurologic reflexes such as the knee-jerk reaction.
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Loss of previously present mental abilities, generally in adults.
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.
A type of Developmental delay characterized by a delay in acquiring motor skills.
Motor developmental milestones not achieved
A generalized disorder of peripheral nerves.
Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.
The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium.
Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.
A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Decrease in blood pressure upon standing up
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magneisum deficiency.
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Absence of neurologic reflexes such as the knee-jerk reaction.
The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex).
Spastic weakness affecting all four limbs.
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
If possible, this term should not be used for new annotations. Rather, a more specific term should be sought.
Lack of clarity and coherence of thought, perception, understanding, or action.
Generalized muscular hypotonia (abnormally low muscle tone).
Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.
A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.
Fasciculations or fibrillation affecting the tongue muscle.
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner.
An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.
Abnormal nervous system electrophysiology
An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Absent or decreased deep tendon reflexes
Decreased to absent deep tendon reflexes
Diminished or absent deep tendon reflexes
Hypoactive to absent deep tendon reflexes
The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect.
Any structural abnormality of the cerebellum.
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Underdevelopment of the vermis of cerebellum.
By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy).
It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced.
Loss of consciousness due to hypoglycemia
EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.
EEG with irregular generalized spike and wave complexes
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation.
TODO: Bundled term. Revise annotations and split this term.
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency.
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxtion (negative myoclonus).
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching.
A partial failure of the development of the corpus callosum.
Partial or complete agenesis of corpus callosum
Partial to complete agenesis of corpus callosum
Partial-total agenesis of corpus callosum
Partial or complete agenesis of the corpus callosum
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci.
Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.
Hemorrhage into the parenchyma of the brain.
A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself.
Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.
Complete lack of development of speech and language abilities.
This term should not be used in very young children.
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less.
Tendon reflexes that are noticably more active than usual (conventionally denoted 3+ on clinical examnation). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).
Abnormal coordination of muscles involved in speech.
Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone.
Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.
The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly.
Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth.
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Flexed joint that cannot be straightened
Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation.
A reduction in the freedom of movement of one or more joints.
Limited ability to straighten the arm at the elbow joint.
The ability of a joint to move beyond its normal range of motion.
The presence of developmental dysplasia of the hip.
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles.
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Scar tissue replaces healthy tissue in the liver
Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies.
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Impairment of bile flow due to obstruction in bile ducts.
Slowed or blocked flow of bile from liver
Steatosis refers to an abnormal accumulation of lipids within a cell or tissue.
obsolete Hepatic abscesses due to immunodeficiency
A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.
Increased incidence of hepatocellular carcinoma
Hepatocellular carcinoma may be associated with hepatitis B virus infection and cirrhosis or alcoholic cirrhosis.
A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.
The presence of fibrosis affecting the interlobular stroma of liver.
Liver fibrosis is not only the result of necrosis, collapse and scar formation but also the result of derangements in the synthesis and degradation of matrix by injured mesenchymal cells.
Impairment of bile flow due to obstruction in the small bile ducts within the liver.
Proliferative changes of the bile ducts.
Portal hypertension is defined as portal vein pressures exceeding 5 mm Hg or portal vein to hepatic vein gradient of greater than 10 mm Hg.
Reduced ability of the liver to perform its functions.
Inflammation of the liver due to infection with enterovirus.
A type of cirrhosis characterized by the presence of small regenerative nodules.
In micronodular cirrhosis (Laennec's cirrhosis or portal cirrhosis) regenerating nodules are under 3 mm. This finding can be demonstrated by liver biopsy.
A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
This finding can be demonstrated by liver biopsy.
A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
Abnormality of the musculature of the hand
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
The observed inheritance for a multifactorial genetic trait or disorder may have a higher frequency within the same family, whether the etiology is genetic or environmental, or a combination of the two.
A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).
A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation.
This term applies to a disease whose etiology is related to an alteration in DNA that occurs after conception. Somatic mutations occur in all body tissues throughout life and are not present in the germline from which the individual developed (The Greek word soma means body.) The majority of somatic mutations have no phenotypic effect. However, occasionally they may have functional consequences that confer a selective advantage on the cell owing to preferential growth or survival. These so-called driver mutations may ultimately lead to cancer or other diseases.
Simultaneous enlargement of the liver and spleen.
Abnormality of the shoulder girdle musculature
Abnormality of the musculature of the lower limbs
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.
Abnormality of the musculature of the thigh
The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations.
Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body.
Autosomal dominant somatic cell mutation
Abnormality of the hip-girdle musculature
Abnormality of the musculature of the upper limbs
A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.
Autosomal dominant contiguous gene syndrome
Abnormality of the musculature of the upper arm
Syndactyly with fusion of toes one to three.
Absence or underdevelopment of the musculature.
Aplasia/Hypoplasia involving the skeletal musculature
Absence or underdevelopment of the muscles of the shoulder.
Aplasia/Hypoplasia involving the shoulder musculature
Amyotrophy involving the shoulder musculature
Absence or underdevelopment of the musculature of the upper limbs.
Absent/underdeveloped upper limb muscles
Aplasia/Hypoplasia involving the musculature of the upper limbs
Absence or underdevelopment of the muscles of the upper arm.
Aplasia/Hypoplasia involving the musculature of the upper arm
Abnormality of the musculature of the pelvis
Aplasia/Hypoplasia of the musculature of the pelvis
Increased density of the bony tissue of the scapula.
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Delayed closure of the soft spot on the skull
Later than typical closing of soft spot of skull
Delayed closure of the anterior fontanelle
A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.
The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Growth of abnormal tissue under the skin
Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below.
Repetitive pressing, poking, and/or rubbing in the eyes.
Eye poking is usually observed in children with an intellectual and visual handicap.
Separation of the vitreous humor from the retina.
The vitreous humour is a transparent and colorless gel located between the retina and the lens. In posterior vitreous detachment (PVD), the vitreous membrane (which surrounds the vitreous humor) separates from the retina. This condition is common in individuals over 65 years of age but may occur in younger persons. PVD is often characterized by flashes of light and floaters, and may be complicated by retinal detachment.
Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.
Congenital fibrosis of the extraocular muscles
Congenital fibrosis of extraocular muscles
Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.
An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.
Underdevelopment of one or more carpal bones.
Increased width of a non-thumb digit of the hand.
Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5".
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile).
A deficiency or slowing down of growth pre- and postnatally.
Poor or abnormally slow gains in weight or height in a child.
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus.
Accumulation of substantial excess body fat.
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.
Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate.
Death within the first 24 months of life.
Overgrowth of only one side of the body.
A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.
Postnatal onset of mild growth retardation
Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.
Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.
A thrusting or bulging out of the abdomen.
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).
Gap between large left and right abdominal muscles
Diastasis recti looks like a ridge, which runs down the middle of the abdomen and increases with muscle straining. Diastasis recti is not uncommon in pregnant women and is common and normal in newborns.
Accumulation of fluid in the peritoneal cavity.
Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels.
A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.
Abnormally prominent umbilicus (belly button).
A morphological anomaly of the rib cage.
Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.
An abnormality of the structure or appearance of the umbilicus.
The umbilicus is also known as the belly button or the navel.
A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.
Barrel chest is often seen in persons with pulmonary emphysema or chronic obstructive pulmonary disease.
Lack of symmetry between the left and right halves of the thorax.
Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'.
An abnormal reduction in quantity or strength of fetal movements.
Less than 10 fetal movements in 12 hours
Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.
The presence of excess amniotic fluid in the uterus during pregnancy.
Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age.
Diminished amniotic fluid volume in pregnancy.
Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm.
Abnormally increased production of urine by the fetus resulting in polyhydramnios.
The fetal urine production rate can be measured by ultrasonography.
Increased distance between the maxillary central permanent incisor tooth.
Diastema between maxillary central incisors
Widely-spaced maxillary central incisors
The presence of multiple impacted teeth.
Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.
The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased.
An abnormality of the integument, which consists of the skin and the superficial fascia.
Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.
Pigmented micronodular adrenocortical disease
Infections of the skin that happen multiple times.
Loose and sagging skin often associated with loss of skin elasticity.
A form of nystagmus in which the eyeball makes rotary motions around the axis.
The presence of a fistula connecting the urinary bladder to the vagina.
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
A bell-shaped thorax is a non-specific finding. In newborns, bell-spahed thorax can indicate a history of intrauterine neuromuscular abnormalities.
Agenesis specifically affecting one of the classes incisor, premolar, or molar.
Decreased size of the maxillary permanent incisor.
Decreased size of maxillary lateral incisor
Decreased width of upper lateral incisor
Abnormality of the fingernails and/or toenails.
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave.
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.
Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.
Vocal cord paresis can be characterized by a hoarseness, reduced volume of speech, aspiration and pain in the throat.
A loss of the ability to move the vocal folds.
Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties.
obsolete Vocal cord paralysis (caused by tumor impingement)
This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth.
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech.
May be associated with incomplete or weak closure of the velum. Examination is by nasal endoscopy.
obsolete Hoarse voice (caused by tumor impingement)
An impairment in the ability to produce voice sounds.
An abnormal increase in the pitch (frequency) of the voice.
Hypophonia refers to an abnormally weak voice due to incoordination of the muscles concerned in vocalization.
The birth of a baby of less than 37 weeks of gestational age.
A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.
Feet or buttocks of fetus positioned near opening of uterus
Any abnormality of the cardiovascular system.
Abnormality of the cardiovascular system
The cardiovascular system consists of the heart, vasculature, and the lymphatic system.
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Hole in heart wall separating two lower heart chambers
Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
Any structural anomaly of the mitral valve.
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Mitral valve prolapse can be associated with mitral regurgitation.
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
A structural anomaly of the muscle layer of the heart wall.
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Any structural abnormality of the pulmonary valve.
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis).
Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction.
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).
Aortic valve has two leaflets rather than three
A normal aortic valve is composed of three aortic-valve cusps, each semilunar in appearance. The leaflets are housed within a small dilatation of the proximal aorta associated with each cusp, called the sinuses of Valsalva or aortic sinuses, and their association with the respective coronary ostia identifies them: left, right, and non-coronary sinuses. Each cusp is attached to the wall of the aorta by the outward edges of its semicircular border, and the attachment point between each leaflet is called a commissure [PMID:24827036].
Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.
Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy.
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
The presence of a stenosis (narrowing) of the aortic valve.
Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance.
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Heart tip and four chambers point towards right side of body
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Any structural abnormality of a cardiac valve.
Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.
The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut.
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
The QT interval represents electrical depolarization and repolarization of the left and right ventricles.
Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.
An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.
A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.
A slower than normal heart rate (in adults, slower than 60 beats per minute).
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.
A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
An anomaly of the intra-atrial or intraventricular septum.
obsolete Tachycardia (with pheochromocytoma)
A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve.
obsolete Rhythm disturbances associated with pheochromocytoma
obsolete Palpitations (with pheochromocytoma)
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Plaque build-up in arteries supplying blood to heart
Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction.
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Interruption of electrical communication between upper and lower chambers of heart
Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.
Coarctation refers to a narrowing of the lumen of a vessel producing an obstruction to flow. Coarctation can occur in any region of the aorta. Coarctation of the aorta is often a discrete obstruction commonly located in the descending thoracic aorta. More specifically, it is usually located in the juxtaductal position immediately distal to the left-subclavian artery in a left-sided arch. The hallmark clinical finding in coarctation of the aorta is hypertension proximal to the lesion, with diminished blood pressure distal to the obstruction. Consequently, clinical diagnosis can be made by the presence of diminished lower extremity pulses, differences in timing between upper extremity central pulses (often brachial) and lower extremity central pulses (often femoral), or the presence of a supine arm-leg blood pressure gradient.
Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.
A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.
Narrowing of blood vessel below aortic heart valve
Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta.
Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.
See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%).
A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.
Atrial septal defect, ostium secundum type
Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.
Myocardial fibrosis disrupts the myocardial architecture, contributes to myocardial disarray, and determines mechanical, electrical, and vasomotor dysfunction, thus promoting the progression of cardiac diseases to heart failure.
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.
A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.
Accumulation of fluid within the pericardium.
Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).
Inflammation of the sac-like covering around the heart (pericardium).
Swelling or irritation of membrane around heart
Any structural anomaly of the tricuspid valve.
One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.
An obstruction to the forward flow of blood in the outflow tract of the right ventricle.
Right ventricular outlet tract obstruction
Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction
An abnormality of the right ventricle of the heart.
The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery.
Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.
Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.
A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.
Any structural abnormality of the left ventricle of the heart.
Abnormal heart left ventricle morphology
Enlargement or increased size of the heart left ventricle.
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.
An abnormal narrowing of the orifice of the mitral valve.
Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.
During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD.
A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.
Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.
Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM.
obsolete Increased prevalence of valvular disease
A cerebrovascular accident (stroke) that occurs because of thromboembolism.
A progressive form of hearing impairment.
The presence of inflammation in the pancreas.
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
A cyst of the pancreas that possess a lining of mucous epithelium.
Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium.
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Inability to properly digest food due to lack of pancreatic digestive enzymes
The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate.
The male foreskin cannot be fully retracted from the head of the penis.
Reduced ability to pass air through the nasal cavity often leading to mouth breathing.
The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system.
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.
An abnormality of the functioning of the vestibular apparatus.
The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body.
Reduced functioning of the vestibular apparatus.
A form of sensorineural hearing impairment that affects primarily the higher frequencies.
High frequency sensorineural hearing impairment
High-tone sensorineural hearing impairment
High-frequency sensorineural hearing impairment
A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others.
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus.
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal))
Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.
A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
A deformity of foot and ankle in which the foot is bent down and outwards.
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Bilateral clubfoot deformity (see HP:0001762).
An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.
Increased side-to-side width of a metatarsal bone.
A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.
Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms.
A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .
Accumulation of fluid in the peritoneal cavity during the fetal period.
A nail that is diminished in length and width, i.e., underdeveloped nail.
When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.
No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified.
Use this designation when the length is reduced but the width is normal.
Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Nail that appears thick when viewed on end.
There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. Onychauxis and onychogryposis are dystrophic diseases of the nail in which the nail plate becomes decidedly hypertrophied. The differentiation of the two entities is only one of degree of severity.
Detachment of the nail from the nail bed.
Longitudinal, linear prominences in the nail plate.
There may be only one, or several ridges. The affected digits should be specified.
A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.
This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments.
Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.
When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.
Nail that appears thin when viewed on end.
No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified.
The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Congenital occlusion of a tube in the genital tract.
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.
The modifier postaxial means that the supernumerary digit is not a hallux.
A toe that appears disproportionately short compared to the foot.
This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly.
Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).
Increased back to front length of the foot.
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.
Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient.
The presence of both a prominent heel and a convex contour of the sole.
Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis.
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline.
Duplication of all or part of the first ray.
Partial/complete duplication of the phalanges of the big toe
This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet.
This term applies for all abnormalities of the big toe, also called hallux.
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest.
This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly.
This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).
Foot and ankle bend up toward shin of leg
Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth.
A developmental defect resulting in the presence of fewer than the normal number of toes.
An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.
A widely spaced gap between the first toe (the great toe) and the second toe.
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between first and second toes
Gout affecting the Metatarsophalangeal joint of big toe.
Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.
This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build.
obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).
Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).
Spontaneous detachment of a foot from the body.
The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.
Acroosteolysis of distal phalanges of feet
Acroosteolysis of distal phalanges (feet)
An abnormality of the hematopoietic system.
Abnormality of blood and blood-forming tissues
Abnormality of the haematopoietic system
The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes.
Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation.
A reduction in the number of circulating thrombocytes.
Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular).
Abnormality of polymorphonuclear neutrophils
Neutrophils are the most abundant leukocytes in blood and are considered to be the first line of defense during inflammation and infections. They are myeloid granulocytes and their names is derived from the fact that their cytoplasm contains granules that stain with acidic dye as well as granules that stain with basic dye. Their nuclei consist of three to five lobes connected by slender threads of chromatin. Mature neutrophils live for approximately one day.
An abnormally low number of neutrophils in the peripheral blood.
Mild neutropenia is defined as an absolute neutrophil count of less than 1500 cells per microliter of blood, moderate less than 1000 cells per microliter of blood and, and severe is less than 500 cells per microliter of blood.
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Any structural abnormality of erythrocytes (red-blood cells).
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count.
An abnormal count or structure of eosinophils.
Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged.
Increased count of eosinophils in the blood.
Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue.
An abnormal decreased number of leukocytes in the blood.
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down.
Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.
Underdevelopment (hypoplasia) of the second toe.
A reduced number of lymphocytes in the blood.
Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).
Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis.
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted.
Increased numbers of platelets in the peripheral blood.
Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia.
A reduced number of reticulocytes in the peripheral blood.
A kind of anemia in which the volume of the red blood cells is normal.
In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults).
The presence of an increased mass of red blood cells in the circulation.
An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.
Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.
Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).
This phenotype may be present in myelodysplastic or myeloproliferative diseases and autoimmune thrombocytopenia (associated with severe leukemoid reactions). It may also be present in inherited diseases such as Bernard-Soulier syndrome or May-Hegglin anomaly.
A reduction in erythrocytes volume or hemoglobin concentration.
Low number of red blood cells or hemoglobin
Anemia is not a specific entity but can result from many underlying pathologic processes. The three main causes of anemia are blood loss, decreased or faulty red blood cell production, and increased destruction of red blood cells. Various classifications are in clinical use including a classification according to the mean corpuscular volume (MCV) of the erythrocytes: microcytic, macrocytic, or normocytic. Anemias can also be classified according to variations in cell size and shape, as reflected by the red-cell distribution width (RDW). Additionally, anemias can be classified into those of inadequate production and hemolytic anemias.
A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.
The antibodies are directed against the cell surface membrane and have no relationship with antineutrophil cytoplasmic antibodies (ANCAs) in the vast majority of cases. It is important to highlight that there are frequent difficulties in the detection of autoantibodies causing AIN due to the labile nature of granulocytes (not storable without activation and consequent autolysis). This type of neutropenia is commonly seen with autoimmune neutropenia of infancy (AIN), also called primary autoimmune neutropenia, is a disease in which antibodies recognize membrane antigens of neutrophils, mostly located on immunoglobulin G (IgG) Fc receptor type 3b (Fc-gamma-IIIb receptor), causing their peripheral destruction.
Neutropenia in presence of anti-neutropil antibodies
The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Any structural abnormality or abnormal count of granulocytes.
Any structural abnormality or abnormal count of basophils.
Basophils are myeoloid granulocytes and part of the innate immune system. They represent the least abundant granulocyte population in mammals. They have a complex, almost C-shaped nucleus. Their granules stain blue with basic dye. They are not phagacytic. They are involved in the immune response to worms. Their cell surface has Fc receptors which may be attached to class E antibodies.
An abnormally reduced number of granulocytes in the blood.
Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production.
A form of amyloidosis that affects the kidney.
Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).
Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies.
The presence of stenosis of the renal artery.
The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.
Enlarged lysosomal vacuoles in lymphocytes
Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency.
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Increased number of immature red blood cells
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low.
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.
Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic).
This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).
Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm.
A kind of anemia in which the volume of the red blood cells is reduced.
In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults).
Abnormal acid accumulation or depletion of base.
When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis.
Acid accumulation or depletion of base in the body due to buildup of metabolic acids.
A decreased concentration of glucose in the blood.
Elevated body temperature due to failed thermoregulation.
Hyperthermia is defined as a temperature greater than 37.5-38.3 degree celsius (100-101 degree Fahrenheit).
Presence of elevated levels of ketone bodies in the body.
Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded.
Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
Accumulation of acid in body due to kidney problem
Depletion of acid or accumulation base in the body fluids.
Alkalosis due to excess loss of carbon dioxide from the body.
Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).
A type of diabetic metabolic abnormality with an accumulation of ketone bodies.
Periodic (episodic or recurrent) bouts of fever.
Episodes of fever for which no infectious cause can be identified.
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Excessive thirst manifested by excessive fluid intake.
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
Absence or underdevelopment of the metatarsal bones.
Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.
The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones.
An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.
Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.
Diffuse mesangial sclerosis glomerulopathy
This finding can be demonstrated by renal biopsy.
An abnormality that involves the tubules and interstitial tissue of the kidney.
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
A malfunctioning of the spleen in which it prematurely destroys red blood cells.
The spleen normally functions to remove senescent red blood cells (RBCs) from the circulation. Hypersplenism represents a pathological acceleration of this function, resulting in the premature removal from the circulation of RBCs and other cellular components of the blood, often accompanied by an increase in size of the spleen (splenomegaly).
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes.
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial system. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection.
An abnormal increase in the number of leukocytes in the blood.
Decreased cell membrane concentration of glycoprotein IIb-IIIa.
Reduced level of platelet glycoprotein IIb/IIIa complex
The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation.
Decreased platelet glycoprotein IIb-IIIa
An abnormality of coagulation related to a decreased concentration of antithrombin-III.
Antithrombin III (ATIII) inhibits the coagulation cascade by lysing thrombin and factor Xa. The defective inhibition of the coagulation cascade is associated with an increased risk of venous and arterial thrombosis. The physiological target proteases of antithrombin are those of the intrinsic pathway, namely the activated forms of Factor X, Factor IX, Factor XI, Factor XII, and, to a greater extent, Factor II (thrombin), and also the activated form of Factor VII (VIIa) from the the extrinsic pathway.
Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).
The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.
During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis.
Abnormal increased number of megaloblasts in the bone marrow.
A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure.
The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.
An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.
A reduction in the expression of CD43 on the cell surface of lymphocytes.
Cd43 defectively expressed on surface of blood cells
Reduced lymphocyte surface expression of sialophorin
CD43 is a cell-surface sialoglycoprotein that is expressed, typically at high levels, on all leukocytes except most resting B lymphocytes.
Reduced lymphocyte surface expression of CD43
A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better.
An increased concentration of ammonia in the blood.
Recurrent episodes of decreased concentration of glucose in the blood.
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Excretion of non-amino organic acids in urine.
Acidosis resulting from accumulation of ketone bodies.
Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism.
An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
Severe chronic metabolic acidosis has two well-recognized major systemic consequences. First, metabolic acidosis, or acidemia, induces increased protein catabolism, decreased protein synthesis, and negative nitrogen and total body protein balance, which improve upon bicarbonate supplementation. Second, metabolic acidosis causes physicochemical dissolution of bone and cell-mediated bone resorption by inhibition of osteoblast and stimulation of osteoclast function.
Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.
An abnormal morphology (form) of the face or its components.
This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.
Reduced distance from the anterior border of the naris to the subnasale.
This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis.
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges.
Increased size of frontal region of face
A congenital malformation with a cleft (gap or opening) in the face.
The categories of facial cleft (subterms) correspond to Tessier, P (1976) Classification of rare craniofacial clefts, Journal of Maxillofacial Surgery; 4:69-92. There exists a competing classification system by Van der Meulen that divides different types of clefts based on where the development arrest occurs in the embryogenesis. The HPO uses the Tessier classification because it is based on phenotype rather than pathophysiological considerations.
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
This is not the same as prominent forehead.
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance.
Decreased transverse dimension of maxilla
A structural abnormality of the central nervous system.
Abnormality of the central nervous system
Morphological abnormality of the central nervous system
An abnormality of the viscera of the abdomen.
The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen.
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Abnormally increased frequency of loose or watery bowel movements.
A sensation of unease in the stomach together with an urge to vomit.
Infrequent or difficult evacuation of feces.
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Pyloric stenosis occurs in the first few months of life.
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Impaired ability to absorb one or more nutrients from the intestine.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain.
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
A structural abnormality of the esophagus.
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Birth defect in which part of esophagus did not develop
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.
An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.
Protrusion of the rectal mucous membrane through the anus.
The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.
A tendency for the upper part of the stomach to herniate into the thorax because of a weakness of the esophageal hiatus, which is the hole in the diaphragm through which the esophagus passes. Hiatus hernia can be asymptomatic or can lead to acid reflux symptoms (heartburn).
Inflammation, or an inflammatory state in the large intestine.
A lack or loss of appetite for food (as a medical condition).
Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat).
Extreme dilation of the submucusoal veins in the lower portion of the esophagus.
Esophageal varices are most often a consequence of portal hypertension.
A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.
Narrowing of esophagus due to inflammation and scar tissue
Gastroesophageal reflux is a common cause of esophageal stricture.
A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.
Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1.
Reduced body temperature due to failed thermoregulation.
A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 degrees C (95.0 degrees F).
The inability to maintain a comfortably body temperature in warm or hot weather.
Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis.
Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Curved linear dimple below the lower lip
Abnormality of the area between the eyebrows
Deformity of the area between the eyebrows
Malformation of the area between the eyebrows
The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root.
A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
An abnormality of the telencephalon, which is also known as the cerebrum.
Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
The pyramidal tracts comprise both the corticospinal and corticobulbar tracts.
Morphological abnormality of the pyramidal tract
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Rigidity is often a manifestation of basal ganglia diseases.
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Inability to coordinate movements when walking
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Generalized tonic-clonic seizures are generalized seizures with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena.
In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure.
A kind of ataxia that affects movements of the extremities.
Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways.
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed.
Abnormality of extrapyramidal motor function
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
Increased neuronal autofluorescent lipopigment
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Difficulty performing quick and alternating movements
Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion.
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Instability or lack of coordination of central trunk muscles
Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support.
Underdevelopment of the corpus callosum.
Underdevelopment of part of brain called corpus callosum
The corpus callosum appears thin in midline views of the brain in neuroradiological images.
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.
The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis.
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
A congenital gap in the skull that usually results in a protrusion of brain material.
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
Brain tissue sticks out through back of skull
An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.
An abnormality of the upper respiratory tract.
Abnormality of the upper respiratory tract
Inflammation of any part of the lung parenchyma.
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Stiff lung or chest wall causing decreased lung volume
The most commonly used term for this feature is restrictive lung disease, but we choose the term Restrictive ventilatory defect to emphasize that this term refers to a phenotypic feature rather than a disease entity.
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
Increased blood pressure in blood vessels of lungs
Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used.
Difficulty in breathing. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.
Defects in the formation of pulmonary lobules.
Inflammation of tissues lining lungs and chest
An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Coughing up blood or blood-stained mucus
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Pneumothorax occurring without traumatic injury to the chest or lung.
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Permanent enlargement of the airways of the lungs
FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent.
Restrictive deficit on pulmonary function tests
Restrictive deficit on pulmonary function testing
An increase in size of the ventricular system of the brain.
Decrease in size of the outer layer of the brain due to loss of brain cells
Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.
Absence seizures present with a sudden cessation of activity and awareness. Absence seizures tend to occur in younger age groups, have more sudden start and termination, and they usually display less complex automatisms than do focal seizures with impaired awareness, but the distinctions are not absolute.
Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal).
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.
Any structural anomaly that affects the upper motor neuron.
previous def: 'has part' some (quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal))
Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.
A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.
Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies.
Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures.
Repeated seizures without recovery between them
The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
The presence of calcium deposition affecting one or more structures of the basal ganglia.
An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.
Hemorrhage occurring between the arachnoid mater and the pia mater.
Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury.
An abnormality of the spinal cord (myelon).
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
An abnormally decreased phosphate concentration in the blood.
An abnormally high level of uric acid in the blood.
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Higher than normal levels of lactate in blood
An increased concentration of proteins in the blood.
An abnormally increased potassium concentration in the blood.
An elevated concentration of glycine in the blood.
Normal blood glycine levels are around 200-250 micromole per liter.
An abnormal increase in the level of triglycerides in the blood.
An increased concentration of homocystine in the urine.
Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency.
An increased concentration of nitrogen compounds in the blood.
Abnormal levels of nitrogen-containing compounds, such as urea and creatinine.
An increased concentration of heparan sulfates in the urine.
An increased concentration of homocystine in the blood.
Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar.
An increased concentration of lysine in the blood.
Normal blood lysine levels are around 180-200 micromole per liter.
Hair on the neck extends more inferiorly than usual.
This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately.
The presence of developmental dysplasia of the nail.
Inward advance of skin over the nail plate.
A decrease in the ability to perceive vibration in the legs.
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
Distal sensory loss, especially vibratory sense
Distal vibratory impairment of the lower limbs
Impaired vibration sensation in the lower limbs
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Involuntary rhythmic muscular contractions and relaxations
Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal.
Gliosis is the focal proliferation of glial cells in the central nervous system.
Gliosis generally occurs as a response to tissue damage. Gliosis appears bright on T2 scans upon magnetic resonance imaging, unlike encephalomalacia which follows CSF signal on all sequences. Glial cells, the non-neuronal component of the central nervous system, are divided into microglia and macroglia. The latter are in turn divided into astrocytes, oligodendrocytes, and ependymal cells. The astrocytes and the microglia are the glial cells predominantly responsible for tissue response to injury.
A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.
A type of tremors that is triggered by holding a limb in a fixed position.
External mechanical compression of the spinal cord.
Clinical abnormalities vary according to the site of the compression any may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors.
Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly.
Progressive loss of neural cells and tissue.
Abnormal accumulation of fluid in the brain.
Cerebral edema refers to swelling within brain tissue due to the accumulation of fluid, and can occur as in response to almost any insulting agent. Edema canbe observed in and around regions of dead or dying brain, around metastases and abscesses, after traumatic injury, following hypoxic ischemic injury, and around primary brain tumors. There are at least five different types of edema: vasogenic, cytotoxic, hydrostatic, interstitial, and hypoosmotic. Three effects of edema are visible on imaging: (i) loss of gray-white matter differentiation; (ii) swelling of sulci (shrinking of gyri); and (iii) mass effects. On CT scanning, extensive low density may represent vasogenic edema. As the brain swells, not only do the sulci decrease, but all of the CSF spaces of the hemispheres (including the ventricles) decrease as well. Magnetic resonance tomography may show abnormalities of diffusion-weighted imaging (DWI), and Fluid attenuation inversion recovery (FLAIR) sequences. Phenotype terms involving cerebral edema thus reflect inference about the underlying processes responsible for these abnormalities on brain imaging.
An abnormally heightened sensitivity to loud sounds.
Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions. Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest.
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Neurofibrillary tangles composed of disordered microtubules in neurons
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
Profound mental retardation is defined as an intelligence quotient (IQ) below 20.
Persons with profound mental retardation generally require constant care.
Delayed myelination in the central nervous system.
Delay in central nervous system myelination
A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood.
A cyst occurring within the choroid plexus within a cerebral ventricle.
Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18.
Spasticity that increases in degree with time.
Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Defective development of the vermis of cerebellum.
Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography.
Seizures of with initial involvement of both cerebral hemispheres.
Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic.
An abnormal dilatation of the fourth cerebral ventricle.
Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.
The presence of an excessive amount of fluid in the pleural cavity.
Inability to move the muscles of respiration.
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Susceptibility to respiratory infections
Replacement of normal lung tissues by fibroblasts and collagen.
Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer.
Diffuse reticular or finely nodular infiltrations
Decreased number of head hairs per unit area.
Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist.
A triangular depigmented region of white hairs located in the anterior midline of the scalp.
Reduced number or density of axillary hair.
Development of gray hair at a younger than normal age.
Hair whose growth is slower than normal.
Hypopigmented hair that appears silver-gray.
Excessive, increased hair growth located in the facial region.
Melanin pigment aggregation in hair shafts
Reduced number or density of pubic hair.
White color (lack of pigmentation) of the eyebrow.
White color (lack of pigmentation) of the eyelashes.
In alopecia areata, round bald patches can appear suddenly.
Abnormally increased hair growth over much of the entire body.
Loss of scalp hair at an earlier than normal age.
Upward and/or sideward growth of anterior hair.
Hemorrhage affecting the gastrointestinal tract.
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.
Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins.
Meckel's diverticulum is a congenital diverticulum located in the distal ileum.
An abnormality of the duodenum, i.e., the first section of the small intestine.
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Absence or narrowing of first part of small bowel
The source of hematemesis is generally the upper gastrointestinal tract.
The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.
The large intestine comprises the cecum and colon.
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract.
The presence of multiple diverticula of the colon.
Chronic inflammation of the nasal mucosa.
More pronounced paramedian peaks and median notch of the Cupid's bow.
This may be associated with a Deep philtrum, but that finding should be coded separately.
An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.
A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.
An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.
An abnormality of the autonomic nervous system.
The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness.
Abnormality of the autonomic nervous system
Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.
Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva.
Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture.
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Gray matter heterotopia is caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.
Neuronal heterotopia consists of grey matter within the white matter, and the term grey matter heterotopia is more frequently used.
Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
Global brain atrophy can be visualized and quantified by magnetic resonance imaging.
A lesser degree of hair pigmentation than would otherwise be expected.
For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives.
Circumscribed depigmentation of the hair of the head or the eyelashes.
Absence of hair in the anterior midline and/or parietal areas.
Progressively reduced or lacking hair growth.
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia).
Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Akinesia is a typical extrapyramidal abnormality.
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Involuntary writhing movements in fingers, hands, toes, and feet
Athetosis derives from the Greek word for 'changeable' or 'unfixed'.
Habitual flow of saliva out of the mouth.
Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.
Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.
Deterioration of the tissues of the lateral corticospinal tracts.
Degeneration of lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition.
An abnormal sensation of spinning while the body is actually stationary.
A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.
Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width.
A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
Attacks of disabling daytime drowsiness and low alertness.
Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.
Loss of previously present motor (i.e., movement) abilities.
The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres.
Congenital absence of the vermis of cerebellum.
Any structural abnormality of the caudate nucleus.
The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent.
Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.
Normal pressure hydrocephalus rarely occurs in patients younger than 60 years.
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
Focal seizure without impairment of consciousness or awareness
Focal seizures without impairment of consciousness or awareness
In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure.
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
This feature can be demonstrated by magnetic resonance imaging or computer tomography.
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.
Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living.
A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.
An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness.
Loss of previously present mental and motor abilities.
A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.
This finding can be demonstrated by magnetic resonance imaging.
Any structural anomaly of the lower motor neuron.
previous def: 'has part' some (quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal))
Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two.
Seizures, generalized, associated with fever
Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.
Loss of developmental skills, as manifested by loss of developmental milestones.
Psychomotor regression beginning in infancy
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones.
obsolete Paraganglioma-related cranial nerve palsy
An unintentional, oscillating to-and-fro muscle movement affecting the hand.
Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.
This finding can be visible clinically and can be demonstrated by electromyography (EMG).
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections.
A type of focal-onset saeizure characterized by impaired awareness. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary.
Focal seizures with impairment of consciousness or awareness
In the previous (1981) ILAE classification of seizure types, the term 'complex partial seizure' was used to denote a focal impaired awareness seizure. The term Dialeptic seizure referred to seizures that have as their main ictal manifestations an alteration of consciousness that is independent of ictal EEG manifestations. The term is no longer recommended according to the 2017 ILAE seizure classification.
Weakness or partial paralysis in the lower limbs.
Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity.
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
The presence of complexes of repetitive spikes and waves in EEG.
Increased deep tendon reflexes in the lower limbs
A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).
Cogwheel rigidity is a typical manifestation of Parkinson disease.
Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord
Degeneration of spinal cord anterior horn cells
Spinal cord anterior horn cell degeneration
No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.
Stroke-like episodes are phenotypic features predominantly of mitochondrial disorders, most frequently mitochondrial encephalopathy, lactacidosis, SLE (MELAS)-syndrome, and mimic the clinical manifestations of ischemic stroke to some extent.
The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.
Increased width of the superior cerebellar peduncle.
A type of dysmetria involving the limbs.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.
Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.
Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Myokymia is characterized electrophysiologically by rhythmic or semi-rhythmic bursts of a single motor unit discharging several times a second at a rate of 3-8 Hz. These myokymic discharges are nonsynchronous in different muscles or even in the same muscle, with intervals of 100-200 milliseconds separating individual bursts. The spontaneous discharges are not initiated by voluntary movement, although they may increase with such activity.
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes.
The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible.
Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.
In the vast majority of cases, a simple persistence of the germinal matrix is proposed to explain their presence in asymptomatic preterm neonates. Viral infections, mainly with CMV and rubella, are commonly found when the pseudocysts are associated with other abnormalities of the central nervous system. The pseudocysts are then often multilocular.
An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.
An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern.
Difficulty to maintain correct position of the head while standing or sitting.
Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.
A defect in the motor ability that enables speech.
Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.
Protrusion of the meninges through a defect of the vertebral column.
A herniation of meninges through a congenital bone defect in the skull in the occipital region.
A specific learning disability involving mathematics and arithmetic.
Difficulty making arithmetical calculations
The presence of a hamartoma of the hypothalamus.
Hypothalamic hamartoma is a malformation, not a tumor. Hypothalamic hamartomas grow at the rate of, or slower than, the surrounding brain tissue. A hamartoma of the hypothalamus appears as a non-enhancing mass in the floor of the third ventricle posterior to the optic chiasm that is isointense to grey matter on T1 and T2 pulse sequences of an MRI, but may have distinct intensity on FLAIR (neither cranial CT examination nor cranial ultrasound examination is adequate for diagnosis of hypothalamic hamartom). Individuals with hypothalamic hamartomas may have neurologic symptoms, although most are asymptomatic. Removal of the hypothalamic hamartoma is not indicated and often results in iatrogenic pituitary insufficiency.
Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
Proliferation of astrocytes in the area of a lesion of the central nervous system.
Any structural anomaly that affects the motor neuron.
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule.
The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance.
This sign is observed upon magnetic resonance tomography (MRI). It can be seen in several diseases including Hallervorden-Spatz syndrome, where the pathophysiology has been hypothesized to be related to iron deposition in the globus pallidus (associated with low signal intensity on T2-weighted images) accompanied by other pathological processes such as gliosis and water accumulation that are responsible for the high signal intensity at the central globus pallidus.
Eye of the tiger anomaly of globus pallidus
Reduced strength of the musculature of the distal extremities.
Muscle weakness, distal limbs, due to neuronopathy
Distal limb muscle weakness due to peripheral neuropathy
Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric.
Dense calcifications in the cerebellar dentate nucleus
Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.
A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.
A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits.
The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.
Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
Delayed relaxation of muscle fibers after contraction
Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers.
Motor hyperactivity with excessive movement of muscles of the body as a whole.
A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).
Increased concentration of lactate in the cerebrospinal fluid.
Spasticity of one or more muscles innervated by the facial nerve.
Spasticity of facial muscles can result in slow oral movements that are imprecise and require a lot of effort.
Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.
Involvement of the corticospinal pathways
A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.
A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response).
Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex.
An abnormality of the cerebral white matter.
Cortical white matter abnormalities seen on MRI
This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex.
Abnormality of the cerebral white matter
Degeneration of the spinocerebellar tracts
Deposition of calcium salts within small blood vessels of the brain.
This finding can be made upon neuropathologic examination.
Calcification of the small brain vessels
Diffuse unlocalised atrophy affecting the cerebrum.
A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.
Spastic paralysis affecting all four limbs.
A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.
Late-onset form of familial Alzheimer disease
Note that this is a bundled term that refers to a disease rather than to phenotypic features. It is retained for convenience since Alzheimer disease is used for annotation of other diseases (e.g., Down syndrome) as if it were a feature. If possible it is preferable to annotate with the precise phenotypic features.
The presence of calcium deposition within brain structures.
Abnormal deposits of calcium in the brain
This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull.
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. The term pseudotumor cerebri (also: idiopathic intracranial hypertension or benign intracranial hypertension) is the presence of increased intracranial pressure in the absence of a brain tumor or other identifiable cause. It should be coded using this term and negations of appropriate other HPO terms. Increased intracranial pressure can damage tissue, contribute to hydrocephalus, cause brain herniation, and restrict blood supply to the brain.
Periventricular white matter abnormalities
Abnormality of the periventricular white matter
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Inability to elicit tendon reflexes in the lower limbs.
A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.
Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage.
Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.
Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease.
This finding can be demonstrated by neuropathology.
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Involuntary flexion or extension of the arms and legs.
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
The presence of developmental dysplasia of the cerebral cortex.
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Retrocollis is a spasmodic form of torticollis in which the head is drawn back.
Patchy loss of myelin from nerve fibers in the central nervous system.
Patchy demyelination of subcortical white matter
Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.
Parkinsonism with favorable response to dopaminergic medication
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Most eyebrows have some arch with downturning medially and laterally.
Congenital failure to develop, and absence of, the nipple.
This finding can be unilateral or bilateral.
Placement of the nipples at a lower than normal location.
Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.
obsolete Malformation of the heart and great vessels
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing.
Paroxysmal, recurrent episodes of vomiting.
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis.
An abnormal connection (fistula) between the esophagus and the trachea.
Abnormal connection between trachea and esophagus
An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.
Intussusception can lead to intestinal obstruction as well as to the interruption of the blood supply to the intestine. It can affect small or large bowel.
The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine.
Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.
Volvulus can lead to intestinal obstruction and ischemia.
A form of chronic gastritis associated with atrophic gastric mucous membrane.
Over time, chronic gastritis leads to atrophy of the gastric mucosa. Thus, chronic atrophc gastritis can represent an end stage of chronic gastritis.
Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.
The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs.
Vomiting that ejects the gastric contents with great force.
An erosion of the mucous membrane of in a portion of the duodenum.
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
An ulcer, that is, an erosion of an area of the gastric mucous membrane.
The presence of a mucosal erosion equal to or greater than 0.5 cm.
Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.
Hypoplasia is defined in MPATH as resulting in a small organ or structure owing to failure to develop to normal size.
Acute obstruction of the intestines preventing passage of the contents of the intestines.
A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. The original description of head titubation in 1899 by Gowers (see pmid:4821687) was: As the disease progresses, some jerky irregularity develops in the movement of the neck and head so that the head presents slight movements, sometimes like an irregular tremor, sometimes simulating chorea.
Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain.
Paresis of extensor muscles of the big toe
Telangiectasia affecting the gastrointestinal tract.
Telangiectasia affecting stomach, duodenum, small bowel, and/or colon.
The presence of necrosis affecting the liver.
Involuntary fecal soiling in adults and children who have usually already been toilet trained.
Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases.
The presence of fibrosis of that part of the liver with congenital onset.
Excessive buildup of connective tissue and scarring of liver at birth
Congenital hepatic fibrosis is characterized by enlarged portal tracts with extensive fibrosis and numerous bile ductules that communicate with the bile tree. The affected area tends to be sharply demarcated from normal liver parenchyma and does not display regenerative nodules (which distinguished the condition from cirrhosis).
Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.
A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.
Low Blood Pressure, vascular hypotension.
An abnormal localized widening (dilatation) of the aortic root.
Bulge in wall of root of large artery that carries blood away from heart
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Aneurysm is considered a severe form of dilatation.
A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon.
An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.
Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.
Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.
Venous varicosities of celiac and mesenteric vessels
The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.
Right aortic arch with mirror image branching
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.
Gastrointestinal arteriovenous malformation
Abnormality of the absorption of fat from the gastrointestinal tract.
Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries.
In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.
Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta.
Disruption of blood oxygen supply to brain
Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).
Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.
A type of hypertension associated with pheochromocytoma.
Hypertension associated with pheochromocytoma
Arteriovenous fistulas of celiac and mesenteric vessels
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormality of pelvic girdle bone morphology
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Irregular, solated bones in the lambdoidal suture or at the fontanelles.
Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.
Tear in inner wall of large artery that carries blood away from heart
The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.
The presence of an abnormal lateral curvature of the spine.
A general term describing features characterized by abnormal development of bones and connective tissues.
The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Abnormal development of end part of bone
Abnormal development of the ends of long bones in arms and legs
An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.
This is a bundled term that will be made obsolete.
An increased tendency to fractures following trauma, with fractures occurring without pain.
Delayed maturation of end part of long bone
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour).
The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer.
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Nephroblastoma is characterized by an abnormal proliferation of the metanephric blastema cells, which are believed to be primitive embryologic cells of the kidney. Clinically, nephroblatoma usually presents as an abdominal mass, and in some cases with abdominal pain, hypertension, hematuria, and fever.
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
The presence of a basal cell carcinoma of the skin.
A basal cell carcinoma is the most common type of skin cancer which rarely metastasizes, but is still considered malignant because it can cause significant destruction and disfigurement by invading surrounding tissues. In 80 percent of all cases, basal cell cancers are found on the head and neck or on other sun-exposed areas of the body. Apart from sporadic basal cell carcinoma, there are hereditary conditions such as the basal cell nevus syndrome where patients develop multiple basal cell carcinomas throughout life.
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Trilobar skull configuration when viewed from the front or behind.
A deformity of the skull that resembles a cloverleaf and is characterized by very prominent temporal bones with constriction of the remainder of the cranium. Cloverleaf skull is commonly accompanied by hydrocephalus.
An abnormal narrowing of the foramen magnum.
The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull. Stenosis of the foramen magnum can represent a risk for compression to the spinal cord.
Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.
A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.
Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone.
The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature.
The presence of an abnormally thick calvaria.
An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.
An abnormal enlargement of the sella turcica.
A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.
Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. Basal Angle formed by: line joining the nasion with the centre of the pituitary fossa line joining the anterior border of the foramen magnum with the centre of the pituitary fossa normal: 125 degrees-143 degrees platybasia: > 143 degrees basilar kyphosis: < 125 degrees
An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.
Increased bone density of the skull base without significant changes in bony contour.
Symmetrical, oval defects in the parietal bone
Any abnormality of the parietal bone of the skull.
Abnormality of the parietal bone of skull
The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.
Persistent foramina of the parietal bones
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the two bones (parietal bones) that form the top and sides of the skull. This condition is due to problems with bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, with variable size ranging from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy.
The foramen magnum is the aperture through which the medulla oblongata enters and exits the skull.
An abnormal increase in the size of the foramen magnum.
Increased circumference of foramen magnum
An abnormality of the process of ossification of the skull.
Abnormality of ossification of calvarium
Abnormality of bone calcification of calvarium
Abnormality of bone calcification of cranium
Abnormality of bone calcification of skull
Abnormality of bone formation of calvarium
Abnormality of bone formation of cranium
Abnormality of bone mineralization of calvarium
Abnormality of bone mineralization of cranium
Abnormality of bone mineralization of skull
The bones of the skull derive directly from mesenchyme cells by intramembranous ossification.
The presence of a high and narrow palate.
The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.
Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.
Prominent central ridge on roof of the mouth
A depression located at an oral commissure.
Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture.
Increased depth of the median tongue furrow.
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms).
The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages.
Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex.
Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.
Increased susceptibility to bacterial infections
Decreased levels of immunoglobulin A (IgA).
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.
An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.
Absence of bactericidal oxidative respiratory burst in phagocytes
An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease.
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Staphylococcus aureus infections, recurrent
Recurrent Staphylococcus aureus infections
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Chronic candidiasis of mucosa, skin and nails
The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders.
Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.
Lymphadenopathy can be defined as enlargement of lymph nodes. It is just a sign accompanying a great variety of entities with multiple etiologies: acute vs. chronic, benign vs. malignant. One of the most commonly seen histological pictures is lymphadenopathy owing to hyperplasia of follicular (germinal centers) but this one is by far not the only one (See Gaddey HL et al. Unexplained Lymphadenopathy: Evaluation and Differential Diagnosis. Am Fam Physician. 2016 1;94:896-903 and Weiss LM. et al. Benign lymphadenopathies. Mod Pathol. 2013;26 Suppl 1:S88-96).
A chronic form of lymphadenopathy that is not related to infection.
A reduction in the rate of apoptosis in lymphocytes.
Apoptosis, a form of programmed cell death, is an important mechanism that prevents uncontrolled proliferation of activated lymphocytes and regulates lymphocyte homeostasis.
Increased thickness of bone of skull base
Decreased pneumatization of frontal sinus
Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.
Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.
Recurrent Serratia marcescens infections
Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.
Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.
Cleft lip and cleft palate affecting both sides of the face.
A thickened white patch on the oral mucosa that cannot be rubbed off.
The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. Leukoplakia is a precancerous lesion, i.e. a morphologically altered tissue in which cancer is more likely to occur than in its apparently normal counterpart.
Decreased lung function due to weak breathing muscles
Decreased respiratory function due to muscle weakness
Respiratory distress due to muscle weakness
Respiratory failure due to muscle weakness
Respiratory insufficiency due to muscle weakness
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Abnormal thinning of the cortical region of bones.
Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.
Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents.
obsolete Osteomyelitis due to immunodeficiency
A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
This term will be made obsolete. The annotations need to be checked.
Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.
Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body.
Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Any morphological abnormality of cartilage.
Increased resistance to the passage of air in the upper airway.
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Recurrent lower respiratory tract infections
Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.
Calcification (abnormal deposits of calcium) in the tracheal tissues.
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Frequent upper respiratory tract infections
Recurrent upper respiratory and lower respiratory infections
Upper respiratory tract infections, recurrent
Recurrent upper respiratory tract infections
Increased respiratory rate or depth of breathing
In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute.
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).
Not to be confused with Hypopnea, where the partial pressure of carbon dioxide can remain normal.
An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.
An anomaly of the rhythm or depth of breathing.
This category describes not-primarily structural lesions.
Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms.
One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.
Multiple congenital contractures in different body areas.
Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.
Exaggerated anterior convexity of the thoracic vertebral column.
Dumbbell shaped wide portion of long bone
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired.
Any abnormality of bones of the arms or legs.
An abnormality of the knee joint or surrounding structures.
An abnormally increased extension of the knee joint, so that the knee can bend backwards.
Individuals with genu recurvatum may experience knee pain, display an extension gait pattern, and have poor proprioceptive control of terminal knee extension.
Any anomaly of the structure of the femur.
The femur (plural: femora) is the thigh bone.
The presence of a tail-like skin appendage located adjacent to the sacrum.
An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).
Displacement of the femur from its normal location in the hip joint.
An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).
Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.
Lytic cystic lesions in appendicular bones
The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs.
Inspiration of a foreign object into the airway.
Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
Exstrophy of the bladder can be associated with epispadias and bifid penis or in females with bifid clitoris, a bifid uterus, and a septated vagina, each of which should be coded separately.
An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.
Abnormal function of a sphincter of the urinary bladder.
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.
Recurrent Burkholderia cepacia infections
T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity.
obsolete Increased proportion of peripheral CD3+ T cells
B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells.
Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.
Depressed antibody response to polysaccharide antigens
Specific anti-polysaccharide antibody deficiency is associated with an increased risk of infection with Streptococcus pneumoniae, Haemophilus influenzae type b, and Staphylococcus aureus.
Specific anti-polysaccharide antibody deficiency
Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.
An abnormally decreased level of immunoglobulin M (IgM) in blood.
An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.
The legs angle inward, such that the knees are close together and the ankles far apart.
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Noncancerous growth of membranes covering brain
The presence of squamous cell carcinoma of the skin.
The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis.
The presence of a carcinoma of the urinary bladder.
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
The presence of a medullary carcinoma of the thyroid gland.
An abnormality of the ilium, the largest and uppermost bone of the pelvis.
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow.
Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.
Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.
Episodic apnea induced by febrile illness or stress
Apneic episodes precipitated by illness, fatigue, stress
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Respiratory failure is classified as type 1 with hypoxemia (arterial partial pressure of oxygen less than 60 mmHg) without hypercapnea, and type 2 with hypoxemia in the present of hypercapnea (partial pressure of carbon dioxide over 50 mmHg).
Abnormally increased variability of the size of the vertebral bodies.
Recurrent bouts of sudden, severe apnea that may be life-threatening.
Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Hepatoblastoma occurs nearly exclusively in infants and children.
A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.
Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa and belonging to the family of cranial primitive neuroectodermal tumors.
A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.
The presence of an ependymoma of the central nervous system.
According to MPATH, ependymomas are neoplasms derived from the ependymal cells lining the ventricles and aqueduct of the brain and the central canal of the spinal cord and may be malignant or benign.
The presence of a carcinoma of the thyroid gland.
The presence of a leiomyosarcoma of the uterus.
Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH].
A benign epithelial tumor derived from intrinsic cells of the adenohypophysis.
In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism.
A tumor (abnormal growth of tissue) of the pancreas.
The presence of a papillary adenocarcinoma of the thyroid gland.
A tumor (abnormal growth of tissue) of the liver.
A benign tumor of the parathyroid gland that can cause hyperparathyroidism.
An abnormally decreased potassium concentration in the blood.
An abnormally decreased calcium concentration in the blood.
An abnormally decreased sodium concentration in the blood.
An increased amount of bilirubin in the blood.
An abnormally increased phosphate concentration in the blood.
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
An increased concentration of all types of amino acid in the urine.
This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased.
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Subclinical abnormal liver function tests
Increased concentration of methylmalonic acid in the blood.
Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism.
Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction.
An increased concentration of chloride in the urine.
An abnormality of chromosome segregation.
An abnormally decreased magnesium concentration in the blood.
An abnormally increased magnesium concentration in the blood.
High levels of ketone bodies in the urine.
Acetone is the main component of the ketone bodies.
An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
An abnormality of the cerebrospinal fluid (CSF).
The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain).
Increased concentration of protein in the cerebrospinal fluid.
Cerebrospinal fluid with increased protein
The presence in the serum of an autoantibody directed against the Fc portion of IgG.
obsolete Decreased circulating aldosterone level
Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland.
Elevated thyroid stimulating hormone levels
Increased serum thyroid-stimulating hormone
Increased thyroid-stimulating hormone level
An abnormal functionality of the thyroid gland.
An increased concentration of histidine in the urine.
Normal urinary histidine total (free and combined form) excretion is around 190 mg per 24 hours.
Pyruvate dehydrogenase complex deficiency
Decreased activity of the pyruvate dehydrogenase complex
Leydig cell insensitivity to gonadotropin
Thyroid hormone resistance because of a defect in the thyroid hormone receptor.
End-organ unresponsiveness to thyroid hormone
A reduction in aldehyde oxidase activity.
Aldehyde oxidase generates carboxylic acids from aldehydes.
Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.
An abnormal reduction in sensation in the distal portions of the extremities.
Distal sensory impairment in lower limbs
Distal sensory impairment of the lower extremities
Distal sensory loss, upper and lower limbs
Absence of one half of the vertebral body.
Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect.
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Excessive inward curvature of lower spine
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Decreased height of the intervertebral disk.
A decrease in the height of the intervertebral disks is usually observed as a narrowing of the space between the vertebrae on X-ray examination.
Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
A developmental defect leading to the union of two adjacent vertebrae.
A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Congenital absence of a part of the vermis of cerebellum.
A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.
This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.
An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.
The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE.
The occurrence of an immune reaction against the organism's own cells or tissues.
Selective deficiency of one or more, but not all, classes of immunoglobulins.
Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.
This is an immune function test measuring the presence of activated T cells that recognize a certain substance.
Abnormal delayed hypersensitivity skin test
Inability to react to a delayed hypersensitivity skin test.
Absence of delayed hypersensitivity skin test
Lack of delayed skin hypersensitivity reaction
Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected.
Abnormal positioning in which the elbows are turned out.
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.
Absent microvilli on the surface of peripheral blood lymphocytes
Decreased ability to react to a delayed hypersensitivity skin test.
Decreased reactivity to skin test antigens
Deficiency of delayed skin hypersensitivity
An abnormal osseous union (fusion) between the radius and the ulna.
Absence or underdevelopment of tissue in the central nervous system.
Absent/underdeveloped central nervous system tissue
Aplasia/Hypoplasia involving the central nervous system
A bending or abnormal curvature affecting a long bone of the leg.
Bowing (abnormal curvature) of the femur.
An abnormality of the calf, i.e. of the posterior part of the lower leg.
A bending or abnormal curvature of the tibia.
A developmental defect with posteromedial tibial angulation.
The presence of abnormally small extremities.
A bending or abnormal curvature of the radius.
Bowing of outer large bone of the forearm
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
An anomaly of the calf bone (fibula), one of the two bones of the calf.
An abnormality of the ulna bone of the forearm.
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.
The presence of a carcinoma of the breast.
A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.
Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system.
Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes.
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
marked metaphyseal flaring of long bones
Figure 11 of pmid:12853662 shows metaphyseal flaring.
Abnormal widening of the metaphyseal regions of long bones.
Abnormality of the wrist, the structure connecting the hand and the forearm.
Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.
Curvature of the shafts of the long bones due to multiple fractures.
Bowing of limbs due to multiple fractures
Irregularity of the normally smooth surface of the metaphyses.
Long bones are also known as tubular bones.
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Disproportionately short middle portion of limb
Shortening of the limbs where the predominant shortness is in the middle bones.
Bending of the diaphysis (shaft) of the ulna.
Ulnar bowing is usually in the convex posterior direction.
An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in shaft of long bone
An abnormal osseous union (fusion) between the radius and the humerus.
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.
Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Partial dislocation of the head of the radius.
Abnormal increase in size of one or more metaphyses.
An abnormality of the humerus (i.e., upper arm bone).
An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.
Abnormal flatness (decreased height) of epiphyses.
An abnormally increased calcium concentration in the blood.
Reduction in the concentration of albumin in the blood.
An increased concentration of glucose in the blood.
A decreased concentration of protein in the blood.
An increased concentration of glucose in the urine.
Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis.
An elevated lipid concentration in the blood.
Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL).
Defective DNA repair after ultraviolet radiation damage
An increased concentration of 4-hydroxy-L-proline the urine.
An increased concentration of potassium(1+) in the urine.
A dislocation of the head of the radius from its socket in the elbow joint.
An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna).
Underdevelopment of the proximal epiphysis of the femur.
Underdevelopment of the innermost thighbone end part
Hypoplasia of the capital femoral epiphysis
Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.
Reduced ability to straighten out the femur.
Relatively increased growth of the fibula compared to that of the tibia.
An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.
Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis.
An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.
Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.
Any deviation from the normal concentration of cholesterol in the blood circulation.
Abnormal circulating cholesterol concentration
An increased concentration of glycine in the urine.
Normal urinary glycine total (free and combined form) excretion is around 450 mg per 24 hours.
An increased excretion of phosphates in the urine.
An abnormality of the composition of urine or the levels of its components.
Abnormality of the homeostasis (concentration) of a monoatomic ion.
The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.
An abnormally decreased chloride concentration in the blood.
obsolete Abnormal cardiological findings
An abnormality detectable by sonography of the heart (echocardiography).
Note that while structural heart anomalies can cause abnormal echocardiograpy findings, structural abnormalities are detectable by multiple imaging modalities and should be coded using terms from the hierarchy under 'Abnormality of cardiac morphology' (HP:0001627).
An abnormal concentration of a hormone in the blood.
Abnormality of circulating hormone level
Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.
An abnormality in the of lipid metabolism.
According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids.
Abnormal circulating lipid concentration
A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
An increased concentration of cholesterol in the blood.
Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
An abnormally decreased calcium concentration in the urine.
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably.
An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.
This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011).
An increased concentration of cystine in the urine.
Cystine is a sulfur-containing amino acid.
An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.
Abnormality of the spinocerebellar tracts
An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).
Sensory and motor nerve conduction abnormalities
A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured.
Abnormality of peripheral nerve conduction
An increased concentration of proline in the urine.
Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours.
An increased amount of nitrogen in the form of urea in the blood.
A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
T-wave inversion in the right precordial leads
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Increased circulating low-density lipoprotein cholesterol
Increased circulating low-density lipoprotein levels
A increased concentration of serotonin in the blood.
Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.
An decreased concentration of cholesterol in the blood.
Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme.
An abnormally high level of uric acid in the urine.
An increased concentration of glutaric acid in the urine.
Increased serum 1,25-dihydroxyvitamin D3
An elevated urinary concentration of cystathionine.
Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine.
An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.
Abnormally increased serum levels of alkaline phosphatase activity.
An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.
Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus.
Increased excretion of oxalates in the urine.
Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.
Abnormal isoelectric focusing of serum transferrin
Abnormal transferrin isoelectric focusing
Human serum transferrin has two N-glycosylation sites, which are normally both fully occupied by disialylated biantennary glycans to generate tetrasialotransferrin.
Increased concentration of pyruvic acid in the urine.
An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
Elevated urinary delta-aminolevulinic acid
Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis.
Hypothalamic gonadotropin-releasing hormone deficiency
An abnormal increased concentration of parathyroid hormone.
Elevated serum parathyroid hormone level
Elevated circulating parathyroid hormone level
Increased concentration of taurine in the urine.
An increased concentration of carnosine in the urine.
Carnosine is the N-(beta-alanyl) derivative of L-histidine.
An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.
An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone.
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
An anomaly of the ischium, which forms the lower and back part of the hip bone.
The ischium, together with the ilium and the pubis, forms the hip bone (os coxae).
Underdevelopment of the ischium, which forms the lower and back part of the hip bone.
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Intrapelvic bulging of the medial acetabular wall.
Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head.
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.
Reduced ability to move the femur outward to the side.
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
The presence of nipples that instead of pointing outward are retracted inwards.
Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
The presence of a notch in the margin of the ala nasi.
The alae nasi are the lateral portions of the nose or the wings of the nostrils, which partly encircle the nostrils (nares). They are usually about the width of the columella, but vary greatly depending on the shape of the nostril. Note that individuals may be described as having a cleft ala nasi, but have a severely Underdeveloped ala nasi. In an underdeveloped ala the continuity of the tissue encircling the nostril is undisturbed while in a cleft it is disrupted. The term coloboma has been replaced because a coloboma is a remnant of a physiologically occurring discontinuity of tissue; the alae nasi do not have such a discontinuity.
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy.
An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.
Mitochondrial proliferation in muscle tissue
This finding is demonstrated by muscle biopsy. Note that additionally, muscle fibers with mitochondrial proliferation stain darkly for succinic dehydrogenase (SDH).
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Neurogenic muscle atrophy, especially in the lower limbs
In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.
Negative nitroblue tetrazolium reduction test
The NBT test measures the ability of neutrophils to convert nitroblue tetrazolium (NBT), to a deep blue color. This test can be abnormal in chronic granulomatous disease.
The intracellular accumulation of autofluorescent storage material.
Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation.
Intracellular accumulation of autofluorescent lipopigment storage material
An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.
'Curvilinear profiles' ultrastructurally in cells
'curvilinear profiles' ultrastructurally
Intracellular curvilinear profiles on ultrastructural analysis
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Pathological deposition of calcium salts in one or more arteries.
Most individuals aged over 60 years have progressively enlarging deposits of calcium mineral in their major arteries. This vascular calcification reduces aortic and arterial elastance, which impairs cardiovascular hemodynamics, resulting in substantial morbidity and mortality in the form of hypertension, aortic stenosis, cardiac hypertrophy, myocardial and lower-limb ischemia, congestive heart failure, and compromised structural integrity.The severity and extent of mineralization reflect atherosclerotic plaque burden and strongly and independently predict cardiovascular morbidity and mortality. (From PMID:18519861).
An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.
'Fingerprint profiles' ultrastructurally in cells
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
A decreased rate of pyruvate carboxylase activity.
Pyruvate carboxylase (EC 6.4.1.1) is a nuclear-encoded mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a precursor for the citric acid cycle.
An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.
Decreased methylmalonyl CoA mutase activity
The product of the enzyme, succinyl-CoA, is a key molecule of the TCA (Krebs) cycle. The substrate of the enzyme, methylmalonyl-CoA, is primarily derived from propionyl-CoA, a substance formed from the catabolism of isoleucine, valine, threonine, methionine, thymine, uracil, cholesterol, or odd-chain fatty acids.
Decreased methylmalonyl-CoA mutase activity
An abnormally increased overall level of immunoglobulin E in blood.
Deficient excision of UV-induced pyrimidine dimers in DNA
An increased concentration of dicarboxylic acid in the urine.
Dicarboxylic aciduria occurs during increased mobilization or inhibited beta-oxidation of fatty acids, where a number of 3-hydroxydicarboxylic acids are excreted in the urine.
According to MeSH (D000682), Amyloid is fibrous protein complex that consists of proteins folded into a specific cross beta-pleated sheet structure. This fibrillar structure has been found as an alternative folding pattern for a variety of functional proteins. Deposits of amyloid in the form of amyloid plaques are associated with a variety of degenerative diseases. The amyloid structure has also been found in a number of functional proteins that are unrelated to disease.
An increased concentration of glutamine in the blood.
Normal glutamine blood levels are around 550-600 micromole per liter.
An increased concentration of orotic acid in the urine.
Increased urinary orotic acid concentration
Orotic acid is an intermediate in the biosynthesis of pyrimidine nucleotides. Some enzymatic deficiencies can cause the excretion of a large amount of orotic acid in the urine and a defect in pyrimidine biosynthesis.
An increased concentration of ethylmalonic acid in the urine.
Ethylmalonic acid is a dicarboxylic acid obtained by substitution of one of the methylene hydrogens of malonic acid by an ethyl group.
A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration.
Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.
Chromosomal breakage induced by diepoxybutane
Chromosomal breakage induced by mitomycin C
Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia.
Chromosomal breakage induced by crosslinking agents
Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12.
Increased cellular sensitivity to UV light
Decreased activity of coagulation factor V.
Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
An abnormally increased sodium concentration in the blood.
An increased concentration of tyrosine in the blood.
An decreased concentration of high-density lipoprotein cholesterol in the blood.
Decreased circulating high-density lipoprotein cholesterol
Decreased circulating high-density lipoprotein levels
A decreased concentration of carnitine in the blood.
Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria.
An increased concentration of methionine in the blood.
Elevated blood methionine levels in the range of 500-2000 micromolar.
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Elevated circulating creatine phosphokinase
'has part' some ('increased amount' and ('inheres in' some (IMR_0002602 and ('part of' some blood))) and ('has modifier' some abnormal))
An abnormally increased level of immunoglobulin G in blood.
An increased concentration of phosphoethanolamine in the urine.
Abnormally elevated activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
Increased phosphoribosyl pyrophosphate synthetase activity
Increased phosphoribosylpyrophosphate synthetase activity
Underdevelopment of part or all of the external reproductive organs.
Underdevelopment of external reproductive organs
Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism.
Location of the urethral opening on the inferior aspect of the penis.
Increased size of the ridge of tissue that extends along the midline of the scrotum.
Gonadal tissue inappropriate for external genitalia or chromosomal sex
An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.
An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
An increased amount of creatinine in the blood.
An increased concentration of hydroxyproline in the blood.
Hydroxyproline is an imino acid normally present in human plasma and is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. Hyperhydroxyprolinemic patients show hydroxyproline blood levels between 150 and 500 micromole per liter. Normal levels are around 10-20 micromole per liter.
An abnormally increased level of immunoglobulin A in blood.
The presence in serum of antibodies against smooth muscle.
Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatitis, cirrhosis, and infectious mononucleosis.
N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome.
Deficiency of N-acetylglucosamine-1-phosphotransferase
A type of hyperbilirubinemia with neonatal onset.
An abnormal decrease in orotidine 5'-phosphate decarboxylase activity.
Orotidine-5-prime-phosphate decarboxylase defect
The enzyme orotidine-5-prime-phosphate decarboxylase (EC 4.1.1.23) catalyzes the reaction H(+) + orotidine 5'-phosphate = CO(2) + UMP (uridine monophosphate). The enzyme is thusinvolved in pyrimidine biosynthesis.
Reduced orotidine 5-prime phosphate decarboxylase activity
A increased concentration of arginine in the urine.
Normal urinary arginine total (free and combined form) excretion is around 30 mg per 24 hours.
Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction.
Abnormal increased size of the viscera of the abdomen.
Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas.
The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle.
Reduced side to side width of the pelvis.
A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.
An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.
Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others.
Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction.
Abnormally reduced serum levels of alkaline phosphatase activity.
An increased concentration of cystathionine in the blood.
Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma.
Mitochondrial propionyl-CoA carboxylase defect
A decreased concentration of leptin in the blood.
Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis.
An increased concentration of threonine in the urine.
Normal urinary threonine total (free and combined form) excretion is around 50 mg per 24 hours.
An increased concentration of lysine in the urine.
Normal urinary lysine total (free and combined form) excretion is around 80 mg per 24 hours.
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.
Displacement of one backbone compared to another
Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.
The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis.
Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).
Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.
Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
A partial dislocation of one or more intervertebral joints in the cervical vertebral column.
Abnormality of the dens of the axis, which is also known as the odontoid process.
The dens of the axis is a protuberance of the C2 vertebral body around which the first vertebra rotates.
Developmental hypoplasia of the dens of the axis.
In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra.
Any abnormality of the cervical vertebral column.
A partial dislocation of the atlantoaxial joints.
A subluxation affecting the intervertebral joint between the first and second cervical vertebrae.
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Any anomaly in the composite material or the layered arrangement of the bony skeleton.
This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside.
An abnormal increase in catecholamine concentration in the blood.
Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma.
Elevated circulating catecholamine level
obsolete Low gonadotropins (secondary hypogonadism)
An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.
This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy.
The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.
Focal necrosis of right ventricular muscle cells
A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.
Anemia corrected by uridylic acid and cytidylic acid
Pyrimidine-responsive megaloblastic anemia
obsolete Abnormal dermatological laboratory findings
The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.
Subepidermal blistering with cleavage in the lamina lucida
Reduced activity of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.
An increased concentration of noradrenaline in the urine.
Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.
The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis.
Impaired lymphocyte transformation with phytohemagglutinin
An increased concentration of alanine in the blood.
This class referring to the clinical feature Hyperalaninemia and not to the disease entry. Normal alanine blood levels are around 350-400 micromole per liter.
A reduction in the rate of cholesterol esterification.
Cholesterol esterification convers free cholesterol to cholesteryl esters between the carboxylate group of a fatty acid and the hydroxyl group of cholesterol. Esterification allows more cholesterol to be packaged into the interior of lipoproteins. Cholesterol esterification rates can be measured in skin fibroblasts using for instance a non-lipoprotein [3H]cholesterol source.
An decreased level of renin (PRO:000013883) in the blood.
An increase in the number of chromosome sets per cell in bone marrow cells.
Endopolyploidy is caused by replication without cell division.
Endopolyploidy on chromosome studies of bone marrow
An abnormality of amino acid metabolism characterized by a decreased rate of propionyl-CoA carboxylase activity.
Propionyl-CoA is an important intermediate in the metabolism of several amino acids and is also produced by oxidation of odd-numbered fatty acids.
An increased concentration of threonine in the blood.
An increased concentration of an amino acid in the urine.
Increased levels of animo acids in urine
A reduction in the level of thymic horomone.
An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.
Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond.
Decreased concentration of sulfate in the urine.
An increased concentration of tryptophan in the urine.
Normal urinary tryptophan total (free and combined form) excretion is around 40 mg per 24 hours.
An increase in the amount of very-low-density lipoprotein cholesterol in the blood.
Increased circulating very-low-density lipoprotein cholesterol
Increased circulating very-low-density lipoprotein levels
Increased VLDL cholesterol concentration
A left-right reversal (or "mirror reflection") of the anatomical location of the viscera of the abdomen.
Abnormality of the femoral neck or head region
An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
An abnormal flattening of the proximal epiphysis of the femur.
An abnormal enlargement of the proximal epiphysis of the femur.
Enlarged end part of innermost thighbone
Enlargement of the proximal femoral epiphysis
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.
A pattern of simultaneous degeneration and regeneration of axons (see comment).
This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment.
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Decreased number of large and small myelinated fibers
This finding can be demonstrated by nerve biopsy.
Decreased number of peripheral myelinated nerve fibers
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve.
Atrophic changes of axons of the peripheral nervous system.
A reduced number of large myelinated nerve fibers.
Decreased number of large peripheral myelinated nerve fibers
Fatigue describes the inability to continue performing a task after multiple repetitions.
An axonal neuropathy of peripheral sensory nerves.
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.
Sudden and involuntary contractions of one or more muscles.
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Generalized hypotonia due to defect at the neuromuscular junction
Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.
Abnormality of neuromuscular transmission
Abnormal synaptic transmission at the neuromuscular junction
A type of onion bulb formation prominently affecting the area of the basal lamina.
Basal lamina 'onion bulb' formations on nerve biopsy
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft.
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
EMG: decremental response of CMAP to repetitive nerve stimulation
EMG: decrement at repetitive stimulation
The result of this test is abnormal if progressively fewer muscle fibers respond to nerve stimulation during a train of stimuli, thereby yielding a decrementing pattern in the CMAP.
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Distal sensory impairment of all modalities
Irregularity of the normally smooth surface of the proximal metaphysis of the femur.
Proximal femoral metaphyseal irregularity
An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.
Partial dislocation of the atlantoaxial joint.
An abnormal narrowing of the spinal canal.
Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column.
Frontal schisis (cleft or cleavage) of vertebral bodies.
Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.
An abnormality related to a defect of vertebral separation during development.
The vertebral column derives from somites, transient paired segments of mesoderm that surround the neural tube in the early embryo. The formation of the vertebrar involves many processes including resegmentation of the rostral and caudal regions of adjacent somites that then fuse to form vertebral elements. Disruption of these processes can a cause of severe segmentation defects of the vetebrae. The frequency of segmentation defects of the vetebra has been estimated at 0.5 of 1000 births. The range of segmentation defects includes left-right uneven formation of somites that results in hemivertebrae or wedge vertebrae. Incomplete segmentation can result in fused segments such as block vertebrae. A failure of the process of resegmentation and migration of the sclerotomal compartment can result in a failure of midline fusion, such as butterlfy vertebrae.
Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.
A type of decreased nerve conduction velocity that affects the motor neuron.
Decreased motor nerve conduction velocities
Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers.
Decreased motor nerve conduction velocity
An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.
Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
A reduction in the size of nerve terminals.
Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy.
Evidence of chronic denervation on electromyography.
This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed.
The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience.
A reduction in the number of axons in the peripheral nervous system.
This finding can be observed upon nerve biopsy.
Reduced speed of conduction of the action potential along a sensory nerve.
Decreased sensory nerve conduction velocities
The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse.
Decreased sensory nerve conduction velocity
Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.
The presence of axonal regeneration following a previous axonal lesion.
This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information.
An increased rate of premature chromosome condensation.
Increased rate of premature chromosome condensation
The presence of autoantibodies in the serum that react against neutrophils.
Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive.
The presence in the serum of autoantibodies directed against thrombocytes.
Increased concentration of long-chain fatty acids in the blood circulation.
This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes.
Elevated circulating long chain fatty acid concentration
Low urinary cyclic AMP response to PTH administration
Abnormal results of investigations using electromyography (EMG).
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.
Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).
Excretion of peptides conjugated to sialic acid in the urine.
Increased urinary O-linked sialopeptides
Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
Increased extraneuronal autofluorescent lipopigment
obsolete Abnormal cholesterol homeostasis
Paradoxical increased cortisol secretion on dexamethasone suppression test
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Neurological deficits ensue if the odontoid process, or posterior arch of the atlas, impinges on the spinal cord.
An abnormality of one or more of the vertebrae.
A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Generalized muscle weakness due to defect at the neuromuscular junction
Proximal muscle weakness due to defect at the neuromuscular junction
This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering.
An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.
This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia.
An abnormality characterized by disruption of the normal functioning of peripheral axons.
This abnormality can be assay by electromyography (EMG) or by nerve biopsy.
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Segmental peripheral demyelination/remyelination
Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations.
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
A positive Babinski sign can indicate damage to the corticospinal tract.
Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia).
obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA
An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.
'has part' some ('increased amount' and ('inheres in' some ('Gonadotropin (adult human)' and ('part of' some urine))) and ('has modifier' some abnormal))
The presence of autoantibodies in the serum that react against nuclei or nuclear components.
Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim.
obsolete Loss of heterozygosity, multiple chromosomes
Cellular accumulation of GM2 gangliosides.
Gangliosides are the main glycolipids of neuronal cell plasma membranes which ensure normal cellular activities. GM2-gangliosidosis can be caused by mutations in three genes: HEXA, HEXB, and GM2A. In patients with HexA deficiency GM2 ganglioside accumulates inside lysosomes, which form characteristic inclusions within the cells, so called membranous cytoplasmic bodies, which are enlarged lysosomes filled with gangliosides. The highest concentration of GM2 ganglioside is found in neuronal cells, therefore, the HexA deficiency primarily affects the nervous system, causing mental and motor developmental delay in patients. Later, progressive destruction of neurons, proliferation of microglia and accumulation of complex lipids in macrophages are observed in the brain tissue.
An abnormally increased level of immunoglobulin M in blood.
A kind of short stature in which different regions of the body are shortened to differing extents.
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
A kind of short stature in which different regions of the body are shortened to a comparable extent.
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).
A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.
Reduced ration of kidney calcium clearance to creatinine clearance
Reduced ration of renal Ca clearance to creatinine clearance
Reduced ration of renal Ca2+ to creatinine clearance
Reduced ratio of renal calcium clearance to creatinine clearance
Deficiency or absence of cytochrome b(-245)
Birth length greater than 97th percentile
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Disproportionate short-trunked short stature
Disproportionate short-trunk short stature
A reduction in methionine synthase activity.
Decreased activity of methionine synthase
Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine, i.e., (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.
Formation of crystals owing to an increased concentration of orotic acid in the urine.
An increased concentration of prostaglandin in the urine.
Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone.
An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.
Parathormone-independent increased renal tubular Ca reabsorption
Parathormone-independent increased renal tubular Ca2+ reabsorption
This feature is seen with familial hypocalciuric hypercalcemia. This disease has three known genetic etiologies, in type 1 there is a loss of function mutation in the calcium-sensing receptor (encoded by CASR), in type 2 there is a gain of function mutation in GNA11, which is involved in calcium-sensing receptor signaling, and in type 3 there is a mutation in AP2S1, which encodes the adaptor-related protein complex 2, sigma 1 subunit, which alters calcium-sensing receptor endocytosis.
Parathormone-independent increased renal tubular calcium reabsorption
An increased concentration of glutaric acid in the blood.
An increased concentration of ornithine in the urine.
Decreased activity of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism.
In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase.
Reduced acetaldehyde dehydrogenase activity
An abnormal reduction in xanthine dehydrogenase activity.
This enzyme is on the purine degradation pathway and catalzyes the reaction xanthine + NAD+ + H2O = urate + NADH + H+.
3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine.
An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.
Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate.
An abnormally low level of uric acid in the blood.
An increased rate of iduronate-2-sulfatase activity in the blood.
Iduronate-2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene are associated with Mucopolysaccharidosis Type II. Increased serum iduronate-2-sulfatase is observed in mucolipidosis II alpha/beta.
Increased serum iduronate sulfatase activity
An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.
An increased concentration of pyruvate in the blood.
An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle.
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.
This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies.
Subsarcolemmal accumulations of abnormally shaped mitochondria
Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).
Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.
A condition in which muscles cannot be moved quickly without accompanying pain or spasm.
obsolete Cellulitis due to immunodeficiency
Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
This finding can be demonstrated by muscle biopsy.
Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.
An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.
Increased variability in muscle fiber size
Increased variation in muscle fiber size
Increased variability in muscle fiber diameter
Rhabdomyolysis induced by a viral infection.
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Muscular dystrophy can be demonstrated by muscle biopsy.
An decreased concentration of low-density lipoprotein cholesterol in the blood.
Decreased circulating low-density lipoprotein levels
Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol.
The presence of a folate sensitive fragile site at chromosome Xq28.
Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA).
An increased erythrocyte sedimentation rate (ESR). The ESR a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.
Increased erythrocyte sedimentation rate
An increased concentration of prostaglandin E2 in the blood.
A decreased rate of glucose-6-phosphate isomerase activity.
Decreased glucose phosphate isomerase activity
Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9).
Decreased glucosephosphate isomerase activity
Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.
A decreased concentration of citrulline in the blood.
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.
Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites.
An abnormally increased sodium concentration in the cytosol.
A phenotypic abnormality that is present at birth.
Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674).
Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.
A type of adult onset with onset of symptoms after the age of 60 years.
Gradual, very slow onset of disease manifestations.
Onset of signs or symptoms of disease between 28 days to one year of life.
Onset of signs or symptoms of disease within the first 12 months of life.
A type of adult onset with onset of symptoms at the age of 40 to 60 years.
Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years.
Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.
Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor.
Increased concentration of 4-hydroxyphenylacetic acid in the urine.
4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
The presence of foam cells that contain lamellar inclusion bodies.
Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy.
Foam cells with lamellar inclusion bodies
Increased cytoplasmic staining of fibroblasts with toluidine blue.
Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia.
If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.
The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. The urine phenylpyruvate concentration is elevanted in phenylketonuria.
The presence of circulating autoantibodies to phospholipids.
This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies.
Increased concentration of trimethylamine in the urine.
Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide.
Premature separation of centromeric heterochromatin
Onset of signs or symptoms of disease between the age of 5 and 15 years.
Signs and symptoms begin before 15 years of age
Onset of signs or symptoms of disease within the first 28 days of life.
Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.
Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.
Loss of fat tissue below the skin in limbs
Loss of subcutaneous adipose tissue from extremities
Loss of subcutaneous adipose tissue in limbs
An abnormal reduction in 4-hydroxyphenylpyruvate dioxygenase activity.
Note: 4-hydroxyphenylpyruvate dioxygenase corresponds to EC 1.13.11.27. 4-Hydroxyphenylpyruvate dioxygenase participates in the tyrosine catabolic pathway by catalyzing the conversion of 4-hydroxyphenylpyruvate to homogentisate. A deficiency in this enzyme can result in 4-Hydroxyphenylacetic aciduria.
Reduced 4-Hydroxyphenylpyruvate dioxygenase activity
An increased concentration of adrenaline in the urine.
The presence of free hemoglobin in the urine.
If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine.
Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.
Abnormal isoelectric focusing of serum transferrin, type I pattern
Isoelectric focusing of serum transferrin consistent with CDG type I
There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal.
Abnormally reduced sulfite oxidase activity.
Sulfite oxidase is responsible for the oxidation of sulfite to sulfate and is the terminal enzyme in the oxidative degradation pathway of sulfur-containing amino acids.
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
Prolonged activated partial thromboplastin time
Abnormally increased concentration of hydrogencarbonate in the urine.
Increased urine bicarbonate concentration
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
An increased concentration of lactic acid in the urine.
Glycosides are molecules with a suger moiety bound to some other moiety.
The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.
Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy.
Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.
Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.
This investigation is no longer in common use.
An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) activity.
Dihydropyrimidine dehydrogenase deficiency
Pyrimidine 5-prime nucleotidase catalyzes the dephosphorylation of the pyrimidine 5-prime monophosphates to the corresponding nucleosides.
Reduced dihydropyrimidine dehydrogenase activity
An abnormality of glycoprotein metabolism related to a decreased rate of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
Deficient N-acetylglucosaminyltransferase II
Reduced activity of N-acetylglucosaminyltransferase II
Reduced activity of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.
Decreased lysosomal acid glucosylceramidase activity
An enzyme that hydrolyzes beta-glucosides in cerebrosides.
Decreased beta-glucocerebrosidase activity
Granular osmiophilic deposits (GROD) in cells
A decreased concentration of methionine in the blood.
Normal methionine blood levels are around 30 micromole per liter.
Muscular atrophy affecting the muscles of the pelvis.
Amyotrophy of the musculature of the pelvis
The age group in which disease manifestations appear.
Adolescent is defined by WHO as a person between 10-19 years of age.
Signs and symptoms worsen slowly with time
An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).
Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma).
Centrally nucleated skeletal muscle fibers
An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
Cytochrome c oxidase deficiency in skeletal muscle
Decreased activity of cytochrome C oxidase in muscle tissue
Decreased skeletal muscle cytochrome c oxidase activity
This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane.
Cytochrome C oxidase-negative muscle fibers
The presence of multiple deletions of mitochondrial DNA (mtDNA).
This feature can be demonstrated by muscle biopsy.
Reduced strength and weakness of the muscles of the arms and legs.
Abnormal protrusion of the scapula away from the surface of the back.
The serratus anterior muscle is responsible for controlling the scapula (shoulder blade), and weakness of this muscle (which may be caused by damage to the long thoracic nerve) can manifest as scular winging.
Muscular atrophy affecting muscles in the distal portions of the extremities.
Distal amyotrophy, especially of the hands and feet
Distal muscle atrophy, upper and lower limbs
Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution).
Lack of strength of the proximal musculature occurring late in the clinical course.
Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.
Absent end part of the outermost bone of the little finger
Absent end part of the outermost bone of the pinkie finger
Absent end part of the outermost bone of the pinky finger
Absent epiphysis of the distal phalanx of the 5th finger
Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
A lack of strength of the proximal muscles.
Weakness in muscles of upper arms and upper legs
Removed logical definition that used anonymous class. Outstanding term request in UBERON for proximal muscle organ.
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions.
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).
Increased muscle bulk based on clinical observation.
Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.
Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.
This feature is demonstrated by muscle biopsy.
Generalized muscular appearance from birth
Transient swelling of muscle induced by percussion.
Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution.
Generalized increase in muscle cell size
Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).
Amyotrophy affecting the muscles of the shoulder girdle.
Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).
EMG: spontaneous, repetitive electrical activity
This is a characteristic abnormality seen in the myotonias and periodic paralyses.
Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
Muscle hypertrophy affecting the thighs.
The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.
A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
This is a bundled term that should not be used for future annotations.
The occurrence of an unusually high amount of muscle pain following exercise.
Myotonia that occurs after a period of rest and decreases with continuing exercise.
A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next.
This mode of inheritance is characteristic of trinucleotide and some other repeat disorders.
A type of genetic anticipation observed predominantly upon transmission from affected males.
Genetic anticipation with paternal anticipation bias
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.
An abnormal, increased fatiguability of the musculature.
Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.
The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.
This feature can only be observed on muscle biopsy.
Type 1 fibers relatively smaller than type 2 fibers
A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.
Congenital underdevelopment of lymph vessels.
This feature can be demonstrated by lymphography.
Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.
Percussion-induced rapid rolling muscle contractions
Formation of calcium deposits in any soft tissue.
A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep.
A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole.
A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
The label Psoriaform dermatitis is used to emphasize that this term is meant to describe the morhpological abnormality of the skin and not all of the manifestations of the disease psoriasis (which can also include itching and nail pitsand other manifestations).
Multiple punctate calcifications in the dental pulp.
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease.
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.
Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.
Type 1 and type 2 muscle fiber minicore regions
Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.
Deposits immunoreactive to beta-amyloid protein
Developmental hypoplasia (shortening) of middle phalanx of toe.
Irregularity of the iliac crest, which is the superior border of the wing of the ilium.
Muscular atrophy affecting the muscles of the limb girdle.
Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.
This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. Rod bodies characteristically stain red with MGT. The rods are delicate and accumulate subsarcolemmaly. They stain negative with ATPase, NADH and SDH as they lack myosin and mitochondria. Rods are characteristic of nemaline myopathy but also seen in central core disease and various other diseases which include neurogenic disorders (amyotrophic lateral sclerosis, spinal muscular atrophy, undefined), inflammatory myopathies (dermatomyositis, polymyositis, periarteritis nodosa), metabolic myopathy (mitochondrial myopathy), muscular dystrophy (LGMD) and some undefined myopathies (Liouet al; Diagnostic role of nemaline rod in neuromuscular disease. Acta Neurol Sinica 1992;1: 218-23).
Marked retardation in skeletal maturation
Muscle abnormality related to mitochondrial dysfunction
An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).
This finding is demonstrated by muscle biopsy.
Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.
Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers.
An abnormally reduced amount of adipose tissue in the thoracic cavity.
Highly variable phenotype, even within families
This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO.
Death in during childhood, defined here as between the ages of 2 and 10 years.
previous def was: 'has part' some (premature and ('inheres in' some death) and ('has modifier' some abnormal))
Death of the fetus in utero after at least 20 weeks of gestation.
A variable severity of phenotypic features.
A situation in which mutation carriers do not show clinically evident phenotypic abnormalities.
A situation in which phenotypic abnormalities become evident with age.
A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
A partial dislocation of the shoulder joint.
Formation of calcified tissue in the soft tissues surrounding the shoulder.
Calcification of the soft-tissue around the shoulders
Soft-tissue ossification around the shoulders
Abnormal shape of end part of upper limb long bones
Abnormality involving the epiphyses of the upper limbs
Epihyseal plate abnormality of the upper limbs
Abnormality of upper limb epiphysis morphology
A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.
Delayed maturation fo the end part of the upper limb bone
Delayed upper limb epiphyseal ossification
Broad epiphyseal plates of the upper limbs
Wide epiphyseal plates of the upper limbs
Cupped wide portion of the upper limb bone
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.
Flared wide portion of the upper limb bone
Irregular wide portion of upper limb bones
Lytic defects in metaphyses of the upper limbs
Normal density transverse bands in metaphyses of the upper limbs
Sclerosis with transverse striations in metaphyses of the upper limbs
Increased bone density in wide portion of the upper limb bones
Sclerosis of metaphyses of the upper limbs
Increased width (breadth) of metaphyses of the arms.
Wide/broad metaphyses of the upper limbs
Cortical diaphyseal irregularity of the upper limbs
Cortical diaphyseal thickening of the upper limbs
An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in central part of long bone of upper limbs
Broad shaft of long bone of the upper limbs
Wide shaft of long bone of the upper limbs
Missing humerus bone associated with congenital failure of development.
A bending or abnormal curvature of the humerus.
Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Destruction of an area of humerus bone due to a disease process, such as cancer.
Osteolytic defects can be observed by radiology studies such as an X-ray; however, the type of condition that is causing the lesion cannot be fully determined by the X-ray alone.
Increased bone density in long bone of upper arm
Flattended head of long bone in upper arm
Abnormality of end part of the long bone of the upper arm
Lack of formation of bone in the epiphysis of the humerus.
Absent maturation of end part of long bone in upper arm
Absent ossification of the humeral epiphyses
Normally, the proximal humeral epiphysis can be visualized at about 40 weeks of gestation.
Ossification of the humeral epiphysis at an earlier age than normal.
Accelerated maturation of end part of long bone in upper arm
Advanced maturation of the humeral epiphyses
Advanced ossification of the humeral epiphysis
A delay in the process of formation and maturation of the humeral epiphysis.
Delayed maturation/delayed ossification of the humeral epiphyses
Delayed maturation of the end part of the long bone in upper arm
Flattened end part of long bone in upper arm
Irregular end part of long bone in upper arm
Irregular maturation of the end part of the long bone in upper arm
Irregular ossification of the humeral epiphyses
Large end part of long bone in upper arm
Round end part of long bone in upper arm
Small end part of long bone in upper arm
Stippled calcification of the humeral epiphyses
The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.
Stippled ossification of the humeral epiphyses
Increased width of the humeral epiphysis.
Abnormality of arm long bone growth plate
Abnormality of the humeral epiphyseal plate
Increased width of the humeral epiphyseal growth plate.
Abnormality of the wide portion of the long bone in upper arm
Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.
A corner fracture is a subepiphyseal planer fracture through immature metaphyseal bone. The appearance of a corner, avulsion or bucket handle depends on the extent of bone failure and radiographic projection. Bone can fail in this pattern from both shearing and tensile stresses. The weakest area of bone for a given loading condition determines the injury threshold for that structure.
Cortical subperiosteal resorption of humeral metaphyses
Enlarged wide portion of long bone of upper arm
Flaring (increase of width with a splayed appearance) of the humeral metaphysis.
Flared wide portion of long bone of upper arm
Irregular wide portion of long bone in upper arm
Irregular bone maturation of the wide portion of the long bone in upper arm
Irregular ossification of humeral metaphyses
Normal-density transverse bands of the humerus
Pointed wide portion of long bone of upper arm
Hardening of wide portion of long bone of upper arm
Stiffening of wide portion of long bone of upper arm
Sclerotic humeral metaphysis with longitudinal striations
Sloping metaphysis of long bone of upper arm
Laterally sloping metaphysis of long bone of upper arm
Spurred metaphysis of long bone of upper arm
Square metaphysis of long bone of upper arm
Speckled calcification in metaphysis of long bone of upper arm
Stippled calcification of humeral metaphysis
Abnormality of shaft of long bone in upper arm
An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.
Cortical irregularity of humeral diaphysis
Cortical thickening of humeral diaphysis
Ground glass opacity of humeral diaphysis
Periosteal new bone of humeral diaphysis
Increased bone density in shaft of long bone in upper arm
Increased width of the humeral diaphysis.
An abnormal osseous union (fusion) between the ulna and the humerus.
Abnormality of the joint spaces of the elbow
Irregular articular surfaces of the elbow joints
Abnormality of end part of the elbow bone
Abnormality of the epiphyses of the elbow
A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.
Delayed maturation of the end part of the elbow bone
Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).
Vertical linear mixed lucent and sclerotic pattern of metaphyses
Sclerotic foci of metaphyses of the elbow
Absence of one or more forearm bones associated with congenital failure of development.
A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.
A bending or abnormal curvature affecting either the radius, the ulna, or both.
Cortical thickening of the forearm bones
Abnormally wide bone of the skeleton of forearm.
Missing radius bone associated with congenital failure of development.
obsolete Chevron-shaped/cone-shaped radius
Missing ulna bone associated with congenital failure of development.
Osteosclerosis (increased density related to increased bone mass) of the ulna.
An injury of the wrist with displacement of any of the eight carpal bones.
The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.
The phrase chevron-shaped (having the shape of a V or an inverted V) is synonymous.
A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.
The epiphyseal plate (or epiphysial plate, physis, or growth plate) is a hyaline cartilage plate in the metaphysis at each end of a long bone. The plate is found in children and adolescents; in adults, who have stopped growing, the plate is replaced by an epiphyseal line. The growth plate has a very specific morphology in having a zonal arrangement. The growth plate includes a relatively inactive reserve zone at the epiphyseal end, moving distally into a proliferative and then hyper trophic zone and ending with a band of ossifying cartilage (the metaphysis).
Premature fusion of the radial epiphyseal plates
Abnormal increase in width of the epiphyseal growth plate of the radius.
The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.
Irregularity of the normally smooth surface of the metaphysis of the radius.
Irregular ossification of the radial metaphysis
Sclerotic radial metaphysis with longitudinal striations
Increase in width (breadth) of the radial metaphysis.
Increase in width of the diaphysis of radius.
Increased diameter of the shaft (diaphysis) of the radius.
Abnormality of the styloid process of ulna
Abnormality of the epiphyseal plate of the ulna
Irregularity of the normally smooth surface of the metaphysis of the ulna.
A sloped configuration of the metaphysis (shaft) of the ulna.
Increase in width (breadth) of the ulnar metaphysis.
The total absence of the hand, with no bony elements distal to the radius or ulna.
Ossification of hand bones at an earlier age than normal.
Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.
Delay maturation/delayed ossification of the hand
Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.
Disharmonic maturation of the hand bones
Dysharmonic ossification of the hand bones
Dysharmonic maturation of the hand bones
Osteosclerosis affecting one or more bones of the hand.
Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a "mitten" hand deformity.
Mitten deformity is also referred to as pseudosyndactyly, which should not be confused with true syndactyly (actual and complete fusion of fingers). Antenatally, pseudosyndactyly can be misinterpreted as syndactyly.
Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.
A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.
This abnormality is often seen in patients with achondroplasia.
obsolete Laterally deviated thumb phalanges
obsolete Laterally deviated terminal thumb phalanx
obsolete Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis
Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.
Finger pointing in a different direction than usual
Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.
There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.
An anomaly of the second finger, also known as the index finger.
obsolete Radially deviated index finger phalanges
An abnormal groove on the midline of the nose that may extend to the nasal tip.
obsolete Radially displaced proximal index finger phalanx
This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.
An abnormal indentation of the skin in the region of the nasal tip.
obsolete Metaphyseal abnormality of middle phalanx of the 2nd finger
obsolete Flared metaphysis of middle phalanx of index finger
obsolete Radially deviated terminal index finger phalanx
obsolete Duplication of terminal index finger phalanx
obsolete Accessory middle-finger phalanges
obsolete Periosteal new bone of middle finger phalanges
obsolete Radially pointed middle finger phalanges
obsolete Radially pointed proximal middle-finger phalanx
Abnormal middle finger bone of the middle finger
Abnormality of the middle phalanx of the 3rd finger
obsolete Accessory middle phalanx of middle finger
obsolete Periosteal new bone of middle phalanx of middle-finger
Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.
Hypoplastic/small distal phalanx of the 3rd finger
Short distal phalanx of the third finger
Short outermost bone of the middle finger
obsolete Abnormality of the epiphyses of the terminal phalanx of the middle finger
obsolete Cone-shaped epiphysis of terminal phalanx of the middle finger
obsolete Fused epiphysis of terminal phalanx of the middle finger
obsolete Large epiphysis of terminal phalanx of the middle finger
obsolete Prematurely fused epiphysis of terminal phalanx of the middle finger
obsolete Bracket epiphyses of the 4th finger
obsolete Expanded phalanges of the ring finger
obsolete Hypoplastic phalanges of the ring finger
Osteolytic defects of the phalanges of the 4th (ring) finger.
Lytic defects of the phalanges of the ring finger
Osteolytic defects of the phalanges of the 4th finger
obsolete Short phalanges of the ring finger
Fusion of two or more bones of the 4th finger.
obsolete Wide/broad phalanges of the ring finger
obsolete Expanded proximal phalanx of the ring finger
obsolete Lytic defects of the proximal phalanx of the ring finger
obsolete Short proximal phalanx of the ring finger
An abnormality affecting one or both 5th fingers.
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Minor degrees of curvature of the small finger are so common as to be considered normal.
Abnormality of the phalanges of the 5th (little) finger.
Abnormality of the phalanges of the 5th finger
Curved phalanges of the 5th (little) finger.
Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.
Lytic defects of the phalanges of the little finger
Osteolytic defects of the phalanges of the 5th finger
Fusion of two or more bones of the 5th finger.
Abnormality of the middle bone of little finger
Abnormality of the middle bone of pinkie finger
Abnormality of the middle bone of pinky finger
Abnormality of the middle phalanx of the 5th finger
Absence or underdevelopment (hypoplasia) of the middle phalanx of the fifth finger.
Hypoplastic middle phalanx of the 5th finger
Hypoplastic/small middle phalanx of the 5th finger
Hypoplastic/small middle phalanx of the little finger
Short middle phalanx of the little finger
Brachymesophalangia-V, a short and broad middle phalanx of the fifth digit, is the most common of all skeletal anomalies of the hand. When this feature appears alone, it is clinically known as brachydactyly type A3 (BDA3).
A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the outermost little finger bone
Cone-shaped end part of the outermost pinkie finger bone
Cone-shaped end part of the outermost pinky finger bone
Cone-shaped epiphysis of the distal phalanx of the little finger
Cone-shaped epiphysis of the distal phalanx of the 5th finger
Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the outermost little finger bone
Increased bone density of end part of the outermost pinkie finger bone
Increased bone density of end part of the outermost pinky finger bone
Ivory epiphysis of the distal phalanx of the little finger
Ivory epiphysis of the terminal phalanx of the little finger
Ivory epiphysis of the distal phalanx of the 5th finger
Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
Abnormality of the end part of middle little finger bone
Abnormality of the end part of middle pinkie finger bone
Abnormality of the end part of middle pinky finger bone
Abnormality of the epiphysis of the middle phalanx of the 5th finger
Abnormality of the distal phalanx of the 5th (little) finger.
Abnormality of the distal phalanx of the little finger
Abnormality of the outermost little finger bone
Abnormality of the outermost pinkie finger bone
Abnormality of the outermost pinky finger bone
Abnormality of the terminal phalanx of the little finger
Abnormality of the distal phalanx of the 5th finger
Curved appearance of the distal phalanx of the 5th (little) finger.
Curved terminal phalanx of the little finger
Hypoplastic/small distal phalanx of the fifth finger.
Fifth digit distal phalangeal hypoplasia
Hypoplastic/small terminal phalanx of the little finger
Short distal phalanx of the fifth finger
A partial dislocation of the proximal interphalangeal joint of the little finger.
Partially dislocated innermost hinge joint of little finger
Partially dislocated innermost hinge joint of pinkie finger
Partially dislocated innermost hinge joint of pinky finger
Subluxation of the proximal interphalangeal joint of the little finger
Radiographically difficult to distinguish between absent ossification of a carpal bone.
The presence of more than the normal number of carpal bones.
Ossification of carpal bones at an abnormally early age.
The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.
Bone-in-a-bone appearance of wrist bones
Bone-in-a-bone appearance of carpal bones
Carpal bones with irregular or fragmented margins.
Point-shaped (punctate) calcifications affecting the carpal bones.
Formation of bone tissue of scaphoid is less than expected for age.
Osseous fusion of the lunate and triquetrum.
Synostosis of the carpal bones is a rare congenital condition. Lunate and triquetrum are the bones more commonly involved.
Formation of bone tissue of trapezium is less than expected for age.
Formation of bone tissue of trapezoid is less than expected for age.
Delayed maturation of the trapezoid bone
Delayed ossification of the trapezoid bone
Osteoarthritis of the small joints of the hand
A partial dislocation of some or all of the small joints of the hand.
Partial dislocation of small joints of hand
Subluxation of the small joints of the hand
Abnormal formation of new bone on the surface of a bone of the hand.
An abnormal union between bones or parts of bones of the hand.
This term refers to a developmental finding resulting in short palms. This term is reserved for individuals with shortening of all four metacarpals 2-5. Individuals with fewer than four shortened metacarpals (in a eudactylous hand, the metacarpals of F2-5) should be coded as Metacarpal, short. See the entry for Hand, small for a discussion of this finding. "Short hand" should not be used as it is a bundle of two readily separable terms, Fingers, short (which, as noted above, can itself be a bundled term) and Palm, short.
For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.
Palm width is measured across the palm at the level of the MCPJ (radial aspect of the F2 MCPJ to the ulnar aspect of the F5 MCPJ). Norms are specified in [Hall et al., 2007]. Caution is advised for the subjective assessment as the breadth may be in the normal range with disproportionately increased length, which appears narrow. This finding may be associated with elongated/slender limbs in general, but that finding does not bear on the coding of this feature. Proximal narrowing may indicate small thenar or hypothenar eminences. This term replaces "narrow hands" as that term may leave the impression that it includes the thumb, which it does not.
Uneven increase in bone density in hand bones
Sclerosis of hand bones with transverse striations
Fusion of the second metacarpal-trapezoid.
Synostosis of second metacarpal-trapezoid
A partial dislocation affecting some or all of the metacarpophalangeal joints.
Subluxation of metacarpophalangeal joints
Subluxation of metacarpal phalangeal joints
An abnormality of the gastric mucous membrane.
Abnormality of the mucous membrane layer of stomach
Abnormality of gastrointestinal vasculature
The presence of any abnormality affecting the abdominal wall.
Abnormality of external features of the abdomen
The presence of a hernia in the abdominal wall.
A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia.
Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.
Abnormal skeletal muscle fiber morphology
Skeletal muscle fibers are cylindrical multinucleated muscle cells. This feature is meant to group abnormalities appreciated by histology, electron microscopy, and similar methods that allow individual cells to be visualized.
Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.
Thickening of the left ventricle wall with congenital onset.
An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.
Pre-excitation syndromes are generally caused by accelerated conduction along an accessory pathway, but in some cases there is accelerated conduction through the normal AV node.
Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining.
An abnormally decreased level of immunoglobulin in blood.
In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM.
An abnormally decreased level of immunoglobulin G (IgG) in blood.
Abnormally reduced levels of aldosterone.
Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis.
The presence of a fistula of the vagina.
The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Any structural anomaly of the vitreous body.
The vitreous humor is the clear gel that fills the space between the lens and the retina.
An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens).
Abnormality of the anterior segment of the eye
Abnormality of the anterior segment of the eyeball
Abnormality of the anterior segment of the globe
Abnormal anterior eye segment morphology
Abnormal morphology of the posterior segment of the globe
Abnormality of the posterior segment of the eye
Abnormality of the posterior segment of the eyeball
Abnormality of the posterior segment of the globe
The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve.
Abnormal posterior eye segment morphology
An increase in the magnitude or amount of ossification of the skull.
A reduction in the magnitude or amount of ossification of the skull.
Abnormality of cells of the lymphoid lineage
A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage.
The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
Large vacuolated foam cells on bone marrow biopsy
Partial or complete wasting (atrophy) of the skin.
The presence of excessive redundant myelin in the peripheral nerve sheath.
Excessive focal folding of myelin sheaths
This finding can be demonstrated by nerve biopsy (e.g., sural nerve biopsy).
Abnormality of an amino acid metabolic process.
Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.
Abnormality of aromatic amino acid family metabolism
Abnormal circulating aromatic amino acid concentration
Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.
Abnormality of sulfur-containing amino acids
Cysteine and methionine contain a sulfur atom.
Abnormal circulating sulfur amino acid concentration
Abnormality of the vitamin B12 metabolism
Abnormality of galactoside metabolism. A galactoside is a glycoside (a suger moiety bound to some other moiety) containing galactose.
An abnormality of glycosphingolipid metabolism.
Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. A glycosphingolipid is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid.
Abnormality of glycosphingolipid metabolism
Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).
A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain.
Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Abnormality of bone mineralisation and ossification
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Any deviation from the normal concentration of a purine in the blood circulation.
Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine.
Abnormal circulating purine concentration
Any deviation from the normal concentration of a pyrimidine in the blood circulation.
Abnormal circulating pyrimidine concentration
Any deviation from the normal concentration of a carboxylic acid in the blood circulation.
Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH).
Abnormal circulating carboxylic acid concentration
obsolete Abnormality of proteoglycan metabolism
A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors.
Any deviation from the normal circulation of leucine in the blood circulation.
Abnormal circulating leucine concentration
NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing.
A deviation from the normal concentration of a fatty acid in the blood circulation.
A fatty acid is an aliphatic monocarboxylic acid derived from or contained in esterified form. Natural fatty acids commonly have a chain of 4 to 28 carbons (usually unbranched and even-numbered), which may be saturated or unsaturated. R-COOH. Fatty acids are usually derived from triglycerides or phospholipids.
Abnormal circulating fatty-acid concentration
An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.
An abnormal concentration of leptin in the blood.
An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.
Abnormality of enteric ganglion morphology
Any deviation from the normal concentration of calcium in the blood circulation.
Abnormal circulating calcium concentration
Any deviation from the normal concentration of a nitrogen compound in the blood circulation.
Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine.
Abnormal circulating nitrogen compound concentration
Any deviation from the normal concentration of tryptophan in the blood circulation.
Abnormal circulating tryptophan concentration
obsolete Abnormality of glycoprotein metabolism
An abnormality of temperature homeostasis.
Abnormality of glycosaminoglycan metabolism.
A glycosaminoglycan is any polysaccharide containing a substantial proportion of aminomonosaccharide residues. Glycosaminoglycan (GAG) are long unbranched polysaccharides consisting of a repeating disaccharide unit. Among the most common GAGs are chondroitin sulfate, dermatan sulfate, chondroitin sulfate, keratan sulfate, heparan sulfate, and hyaluronan.
A type of dystonia that is localized to a specific part of the body.
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Paralysis or weakness of one side of body
A tumor (abnormal growth of tissue) of the nervous system.
Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors.
Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).
The anal canal is continuous proximally with the rectum and distally terminates with the anus.
An abnormality of alkaline phosphatase activity.
Note that the alkaline phosphatase family has four isoenzymes in humans, each of which additionally can have different isoforms. The primary clinical importance of measuring alkaline phosphatase is to check the possibility of bone disease or liver disease.
Abnormality of alkaline phosphatase activity
Deposition of calcium salts in the aortic valve.
A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.
Abnormal calcification of the mitral valve.
Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.
Hypoplastic left heart syndrome is an unsatisfactory term describing lethal underdevelopment of the left ventricle (LV). It represents the more severe end of a spectrum of LV hypoplasia, mandating single-ventricle palliation or cardiac transplantation. Less severe borderline ventricular hypoplasia may instead allow various biventricular therapeutic strategies and better long-term outcomes.
Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.
According to the Van Praagh classification (pmid:2856609). The Van Praagh classification additionally specifies the presence (subtype A) or absence (subtype B) of a ventricular septal defect.
Inflammation of the alimentary part of the gastrointestinal system.
An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Patients with Cowden-Syndrom for example often have multiple hamartomatous gastrointestinal polyps.
A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.
Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles.
Abnormal displacement or malposition of the anus.
Sore in the lining of gastrointestinal tract
A peptic ulcer is defined as an erosion of the mucosa of the gastrointestinal tract, and can occur as esophageal ulcer, gastric ulcer, duodenal ulcer, and Meckel's Diverticulum ulcer.
Obstruction of the intestine due to abnormally thick meconium.
Obstruction of the intestine is known as ileus.
An anomaly in the ability to perceive and distinguish scents (odors).
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.
Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis.
Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).
The formation of a blood clot inside an artery.
Abnormal increase in systolic blood pressure.
Normal systolic blood pressure is less than 120 mmHg in adults.
A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. "Buccal" means relating to the cheek. The cheek is part of the midface
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.
A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.
An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.
Absence or extremely low level of IgA, IgM, and IgM in the circulation.
Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.
A reduced level of the complement component C8 in circulation.
The eighth component of complement (C8) plays an important role in the function of membrane attack complex (MAC) that is generated on target cells upon activation of the complement system. MAC is generated by sequential addition of C5b, C6, C7, C8, and C9 molecules, which results in the transmembrane pore and eventual cell lysis. Individuals with C8 deficiency tend to have recurrent neisserial infections.
Excessive growth of the bones of cranium, i.e., of the skull.
Bony overgrowth of the internal (endosteal) surface of the frontal bone.
Enlargement of the inner surface of the frontal bone
Hypertrophy of the internal surface of the frontal bone
Increased ossification of the internal surface of the frontal bone
Overgrowth of the inside of the frontal bone
Thick internal surface of the frontal bone
Excessive growth of inner surface of the frontal bone
Hyperostosis of the internal surface of the frontal bone
Overgrowth of the inner surface of the frontal bone
A characteristic appearance resulting from defective ossification of craniofacial bones.
Note: This term is used in the medical literature to describe an appearance of the face of patients with Crouzon syndrome (also called craniofacial dysostosis), which is characterized by acrocephaly, exophthalmos, hypertelorism, strabismus, parrot-beaked nose, and hypoplastic maxilla. This is thus probably mainly used as a bundled term and should be replaced by better descriptions in the future.
Premature closure of the coronal suture of skull.
A kind of craniosynostosis affecting the sagittal suture.
A kind of craniosynostosis affecting the lambdoidal suture.
The presence of erythrocytes that are sphere-shaped.
Erythrocytes are normally biconcave rather than spherical.
The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.
The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.
The presence of abnormally shaped erythrocytes.
General description for abnormally shaped erythrocytes.
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.
A groove of the skin immediately in front of the ear.
A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
A condition in which the superior portion of the helix is folded over to a greater degree than normal.
Reduced anterior-posterior diameter of vertebral bodies
The presence of a dilated inner part of external acoustic meatus.
A benign bony growth projecting outward from a bone surface within the external auditory canal.
Exostosis of the external auditory canal
Lack of measurable response to stimulation of auditory evoked potentials.
Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
Prolonged brainstem auditory evoked potentials
Small indentation anterior to the insertion of the ear.
Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).
A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.
A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.
Aplasia cutis congenita over the scalp vertex
Hyperostosis (bony overgrowth) of the mandible.
Increased ossification of mandibular bone
This bundled term will be made obsolete in future versions of the HPO.
The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.
A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.
Absent cutis congenita over parietal area
Aplasia cutis congenita over parietal area
The progressive development of an abnormally large skull.
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Asymmetry of the bones of the skull and the face.
Stagnation of head growth seen as flattening of the head circumference curve.
An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.
The presence of an abnormally large skull with onset at birth.
Head circumference large for gestational age
Increased ossification of calvarial bones
The calvaria (skull cap) is made up of the frontal, occipital, right and left parietal, right and left temporal, sphenoid, and ethmoid bones, and thus comprises the upper dome-like part of the skull and does not include the lower jaw.
An enlargement of the posterior fontanelle relative to age-dependent norms.
An abnormally increased width of the cranial fontanelles and sutures.
This term indicates that both the fontanelles and the sutures are widely patent and thus represents a severe form of delay in closure of the fontanelles/sutures.
Excessive growth of the craniofacial bones.
Excessive bone growth of the skull and face
Increased ossification of craniofacial bones
This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations.
Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture).
Chronic nasal inflammation due to narrow nasal airway
Chronic rhinitis due to narrow nasal airway
Bilateral absence (atresia) of the posterior nasal aperture (choana).
Bilateral blockage of the rear opening of the nasal cavity
Bilateral obstruction of the rear opening of the nasal cavity
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
The islets of Langerhans contain the alpha cells (producing glucagon), beta cells (insulin and amylin), delta cells (somatostatin),PP cells (pancreatic polypeptide), and the epsilon cells (ghrelin).
Increased length of the hairs of the eyebrows.
Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).
Large clumps of pigment irregularly distributed along hair shaft
Reduced or lacking hair growth in a generalized distribution.
Excessive, increased hair growth located in the sacral region.
Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.
Hypertrichosis, congenital anterior cervical
A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.
Hypertrichosis refers to excessive, abnormal hairiness.
Hair loss on scalp from scarring condition
Generalized excessive, abnormal hairiness.
A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.
Increased bone density affecting the bones of the spine (vertebral column).
Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.
Anterior tongue-like protrusions of the vertebral bodies.
Increased top to bottom height of vertebral bodies.
An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).
Anterior wedging of the 11th thoracic vertebra
Sclerosis (increased density) affecting vertebral end plates.
An excessive concavity of the anterior surface of one or more vertebral bodies.
One cause of anterior scalloping is an aortic aneurysm, which because of its pulsatile pressure can cause a convex defect along the anterior surface of an adjacent vertebra body. The defect may have a sclerotic margin.
Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.
This finding has been called fish or codfish vertebra because of the characteristic biconcave form of fish vertebral bodies.
A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.
Supernumerary vertebral ossification centers
Absent or minimally ossified vertebral bodies
The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.
Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.
A lack of bone mineralization of the vertebral bodies.
A lack of ossification of the vertebral bodies.
Anterior tongue-like protrusions of the lower thoracic vertebral bodies.
Anterior beaking of lower thoracic vertebrae
Anterior mislocalization of the dens of the axis.
An abnormal narrowing of the lumbar spinal canal.
Symptoms of lumbar spinal canal stenosis include pseudoclaudication (pain, numbness,, or weakness induced by walking and relieved by rest; the prefix pseudo is used to differentiate this manifestation from claudication, which has similar symptoms but is caused by peripheral artery disease).
Anterior concavity of thoracic vertebrae
The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.
A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.
Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.
Increased size of the vertebral pedicle.
The vertebral pedicles are the two short, thick processes, which connect the body of the spinal vertebra to the arch.
A progressive form of decreased height of the intervertebral disk.
Progressive intervertebral space narrowing
Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.
Note that biconvex vertebral bodies can be a normal finding in newborns.
Anterior tongue-like protrusions of thoracic vertebral bodies.
Decreased cervical spine flexion due to contractures of posterior cervical muscles
An abnormality related to a defect of vertebral separation of cervical vertebrae during development.
Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.
Fusion of the C5 and C6 cervical vertebrae.
An elevation of alpha-feto protein measured in the amniotic fluid.
Elevated amniotic fluid alpha fetal protein
Elevated amniotic fluid alpha-1-fetoprotein
Elevated amniotic fluid alpha-fetoglobulin
This feature can be found in pregnancies with fetuses affected by a range of abnormalities including for instance encephalocele.
Elevated amniotic fluid alpha-fetoprotein
Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Reduced strength of the frontalis muscle (which is located on the forehead).
Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.
A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.
Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.
Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.
The phrase talipes valgus is derived from the Latin words talus (ankle), pes (poot), and valgus (outward angulation of the distal segment of a bone).
Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.
An abnormal thickening of the Achilles tendon.
Syndactyly with fusion of toes two and three.
Complete cutaneous syndactyly of second and third toes
Cutaneous syndactyly of second and third toes
partial or complete syndactyly 2nd-3rd toes
Syndactyly with fusion of toes four and five.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.
Decrease in mass and density of the metatarsal bones.
Short (hypoplastic) fifth metatarsal bone.
An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.
The final kidney position in the renal fossa results from the rotation of the kidney with an orientation of the renal pelvis to the medial and the renal calyces to the lateral. Malrotation of the kidney can lead to orientation of the renal pelvis anteriorly, posteriorly and laterally. In most cases, renal malrotation does not cause any symptoms, but, hydronephrosis or stone formation can be observed as complications of renal malformation.
Acute renal failure with resolution of manifestations.
An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Increase in thickness of the basal lamina of the glomerulus of the kidney.
This finding is demonstrated on renal biopsy.
Thickening of the glomerular basement membrane
The presence of calcium-containing calculi (stones) in the kidneys.
The overwhelming majority of renal calculi contain calcium.
A defect in the ability to concentrate the urine.
An impairment in renal concentrating ability can be easily recognized by the maximum concentrating ability (Umax) as determined by the urine osmolality reached after a fixed period of dehydration. Inability to maximally concentrate the urine is related to one or both of two basic tubular defects: 1) a failure of maximal free-water generation by the diluting segment in the ascending limb of Henle's loop; and 2) a failure of the distal tubular epithelium to achieve maximum permeability to water during water deprivation.
Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
A reduction in the ability of the kidneys to remove uric acid from the serum.
Cysts of microscopic size confined to the cortex of the kidney.
A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.
Complete and diffuse scarring of glomerulus.
All portions of all glomeruli are affected.
An abnormality of the renal collecting system.
Abnormality of the renal collecting system
Abnormal renal collecting system morphology
Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Electron dense deposits at the glomerular basement membrane,
Membranoproliferative glomerulonephritis type II
Subendothelial electron-dense deposits are a characteristc feature of dense-deposit disease.
Glomerular subendothelial electron-dense deposits
A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.
Atrial flutter can lead to palpitations, fatigue, dyspnea, and chest pain. Atrial flutter can be paroxysmal or persistent.
Episodes of ventricular tachycardia that have a sudden onset and ending.
A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.
Congenital atrioventricular dissociation
AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
The natural history of atrial fibrillation (AF) is characterized by a gradual worsening with time. AF itself produces changes in atrial function and structure. Note there is no precise definition of the duration of AF required to be regarded as chronic.
Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.
A narrow complex (QRS width less than 120 milliseconds) reflects rapid activation of the ventricles via the normal conduction pathway, i.e. His-Purkinje system, which in turn suggests that the tachycardia originated above the AV node and is thus supraventricular.
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Ventricular tachycardia (VT) is a potentially life-threatening ventricular arrhythmia that presents as a wide QRS complex tachycardia, and is defined as three or more consecutive QRS complexes with a duration longer than 120 milliseconds (ms) and a rate of 100 beats per minute or more, whereby the complexes have a ventricular origin. VT can be subdivided as follows: (i) sustained VT persists for 30 seconds or more; (ii) non-sustained VT lasts less than 30 seconds; (iii) monomorphic VT displays a uniform QRS morphology; and (iv) polymorphic VT displays QRS morphologies that variy from beat to beat. VT is observed most commonly in individuals with structural heart disease or acute myocardial infarction (MI). VT may also be observed in in the setting of drug toxicity or electrolyte abnormalities or in individuals with Mendelian disease.
Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.
Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
Catecholaminergic polymorphic ventricular tachycardia
Exercise-induced polymorphic ventricular tachycardia
Effort-induced polymorphic ventricular tachycardia
obsolete Nodular calcific aortic valve disease
Post-angioplasty coronary artery restenosis
Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.
An episodic form of supraventricular tachycardia with abrupt onset and termination.
PSVT is a term used to denote intermittent supraventricular tachycardia other than atrial fibrillation, atrial flutter and multifocal atrial tachycardia (AT). The major causes are atrioventricular reentrant tachycardia (AVNRT), atrioventricular reentrant tachycardia (AVRT), and sinoatrial node reentrant tachycardia (SNRT).
Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.
Decreased number of head hairs per unit area on the anterior region of the scalp.
Excessive, increased hair growth located in the elbow region.
Reduced or lacking hair growth of the scalp.
Presence of multiple polyps in the duodenum.
The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.
An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.
Note that different definitions of fulminant hepatitis are used in the medical literature.
Fluid retention and edema in the intestine caused by a compromised lymphatic system.
Underdevelopment of the small intestine.
Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
The presence of a fistula between the perineum and the rectum.
A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.
Malrotation results not only in the malposition of the bowel but also in the malfixation of the mesentery. The normally broad mesenteric attachment is shortened to a narrow pedicle that predisposes the patient to the complication of midgut volvulus.
Polyp-like protrusions which are histologically hamartomas located in the stomach.
The presence of multiple areas of atresia affecting the small intestine.
Recurrent infection of the gastrointestinal tract.
A form of hemolytic anemia that occurs in repeated episodes.
A form of hemolytic anemia with congenital onset.
A form of leukemia characterized by overproduction of an early myeloid cell.
Low platelet count associated with maternal platelet-specific alloantibodies.
Neonatal alloimmune thrombocytopenia occurs following fetomaternal transfusions leading to generation of alloreactive antiplatelet antibodies.
A type of hypoplastic anemia with congenital onset.
In this condition, hematopoiesis must have been inadequate in fetal life. Affected infant have marked pallor and reticulocytopenia or absence of red blood cell precursors in an otherwise normally cellular bone marrow. This term does not refer to a particular diagnosis or etiology (or which several are known) but to the phenotypic feature.
A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.
Post-transfusion thrombocytopenia is thought to be related to platelet-specific alloantibody from prior transfusion/pregnancy.
A kind of hemolytic anemia that is induced by the ingestion of fava beans.
Hemolytic anemia following ingestion of fava beans
Persons with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to fava bean-induced hemolytic anemia because of the oxidative stress induced by compunds in Fava beans (thought to be vicine and isouramil). The same underlying defect can make affected persons susceptible to hemolysis induced by a number of mediciations.
A form of hemolytic anemia that is triggered by ingestion of certain drugs.
A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).
An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.
An excessive division of the lobes of the nucleus of a neutrophil.
Hypersegmentation of neutrophil nuclei in peripheral blood
Neutrophils usually display 3-4 nuclear lobes. Hypersegmented neutrophile nuclei display 5 or more lobes. This feature can be seen in vitamin B12 or folate deficiency or with other etiologies.
A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.
An abnormal increase in the binding affinity of hemoglobin for oxygen.
A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.
Folate-unresponsive megaloblastic anemia
A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.
Refractory anemia with ringed sideroblasts
Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.
The presence of erythrocytes that are sphere-shaped and reduced in size.
A type of acute myeloid leukemia in which abnormal promyelocytes predominate.
A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.
A type of hemolytic anemia in which the Coombs test is positive.
The Coombs test measures a coating of immunoglobulin or complement on the red cell surface.
The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.
Bleeding that persists longer than the normal time following a surgical procedure.
A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.
Philadelphia-positive acute lymphoblastic leukemia
Ph-positive acute lymphoblastic leukemia
Repeated episodes of the formation of a blot clot in a deep vein.
A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.
A decreased alkaline phosphatase activity measured within leukocytes.
Reduced platelet count that occurs sporadically, i.e., it comes and goes.
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.
Protein S functions as a cofactor to Protein C in the inactivation of Factors Va and VIIIa in the coagulation pathway. Therefore, a defect in protein S is associated with an increased risk of thrombosis.
A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.
A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of haemoglobin.
Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.
A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.
Thiamine-responsive megaloblastic anemia
A type of sideroblastic anemia that is not responsive to treatment.
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
Impaired ADP-induced platelet aggregation
The presence of a fistula between the bowel and the perineum.
The perineum is the diamond-shaped region of the body between the pubic arch and the anus.
An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.
Pneumothorax occurring neonatally without traumatic injury to the chest or lung.
Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.
Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.
A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.
Respiratory distress necessitating mechanical ventilation
Respiratory distress requiring endotracheal intubation
Respiratory distress requiring mechanical ventilation
Respiratory failure requiring assisted ventilation
Intermittent episodes of respiratory insufficiency due to muscle weakness
An abnormally elevated blood pressure in the circulation of the pulmonary artery.
Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.
A form of lactic acidemia that occurs in relation to stress or infection.
Stress/infection-induced lactic acidosis
A form of lactic acidemia that occurs following exercise or exertion.
A form of lactic acidemia with congenital onset.
The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells.
Hypokalemic hypochloremic metabolic alkalosis
Bicarbonate-wasting renal tubular acidosis
Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
An intermittent (discontinuous) form of lactic acidemia.
Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.
An abnormality of magnesium ion homeostasis.
An increased concentration of L-phenylalanine in the blood.
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.
Orthostatic hypotension due to autonomic dysfunction
An abnormal widening of the diameter of the pulmonary artery.
Abnormality of the pulmonary vasculature
Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.
Hardened artery wall in small cerebral arteries
Arteriosclerosis of small cerebral arteries
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
According to the Stanford classification, type A aortic dissection affects the ascending aorta and arch.
Abnormal calcification of the vasculature.
A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Pulmonary artery atresia means that unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation.
Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
Excessive bending, twisting, and winding of a cerebral artery.
Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.
Increased pressure in the pre-hepatic portal vein.
previous def: 'has part' some ('increased pressure' and ('inheres in' some ('arterial blood' and ('part of' some 'Pre-hepatic portal vein (adult human)'))) and ('has modifier' some abnormal))
Hypertension in the portal venous tree proper.
Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.
Bulge in wall of large artery that carries blood away from heart
Aneurysm is considered a severe (pathological) form of dilatation of a segment of a blood vessel. In clinical practice, dilatation and aneurysm are occasionally used interchangably. In this subhierarchy, we therefore use aneurysm as the primary label and list dilatation as a broad synonym.
Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.
The presence of a localized dilatation or ballooning of a cerebral artery.
A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.
Extracranial internal carotid artery dissection
An abnormal connection between an artery and vein.
Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.
The ankle-brachial index (ABI; the ratio of systolic blood pressure in the ankle to that in the arm), is a measure of occlusion of peripheral arteries in the leg. Peripheral arterial stenosis may be observed with atherosclerosis and with increased intima media thickness as seen in diseases such as pseudoxanthoma elasticum. The most common cause of peripheral arterial stenosis in patients over 40 years of age is atherosclerosis. Cerebral and coronary arteries are by definition not included in peripheral artery disease.
A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.
obsolete Dilatation of the descending aorta
Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.
An abnormal localized widening (dilatation) of the descending thoracic aorta.
Dilatation of the descending thoracic aorta
A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.
This is a rare feature that has been observed in recessive lethal osteogenesis imperfecta with mutation in CRTAP.
An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.
Calcification, that is, pathological deposition of calcium salts in the aorta.
Note that the phrase "aortic calcification" is mainly used to describe calcification of the aortic valve rather than of the aorta itself.
Increase in mass of the tunica media of the arteries in the pulmonary circulation.
Hypertrophy of the pulmonary artery wall
Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.
Recurrent bleeding into the parenchyma of the brain.
Stenosis of a peripheral branch of the pulmonary artery.
An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.
Bulging of wall of large artery located above heart
Underdevelopment of the pulmonary artery.
An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.
Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.
Erlenmeyer flask deformity of distal femur
Erlenmeyer flask deformity of the femurs
Missing radius bone on both sides associated with congenital failure of development.
Abnormally increased density of metaphyseal bone.
Increased bone density in wide portion of long bone
Reduction in density of metaphyseal bony tissue.
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).
Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.
Slender long bones with narrow diaphyses
Multicentric ossification of proximal humeral epiphyses
Patellar dislocation occurring repeated times.
Absence or underdevelopment of the proximal epiphysis of the femur.
Absent/small end part of innermost thighbone
Absent/underdeveloped end part of innermost thighbone
Aplasia/Hypoplasia of the capital femoral epiphysis
An abnormally flat form of the proximal epiphysis of the radius.
Congenital onset bending or abnormal curvature of the femur that normalizes with age.
Bowing of thighbone at birth, straightening with time
This feature can be diagnosed based on the medical history of congenital femoral bowing with spontaneous improvement.
Femoral bowing present at birth, straightening with time
The humerus is shortened and displays flaring (widening) of the metaphyses.
Osteomyelitis leading to amputation due to slow healing fractures
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Abnormally developed (dysplastic) distal epiphysis of the radius.
Thickening of shaft or central part of long bones
Underdevelopment of the distal portion of the humerus.
Wide innermost wide portion of shankbone bone
Wide innermost wide portion of shinbone bone
Underdevelopment of the distal portion of the ulna.
Developmental hypoplasia (shortening) of all phalanges of the foot.
Underdevelopment of the ulna on only one side.
An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.
Multiple exostoses originating in long bones.
Multiple exostoses of long tubular bones
Irregular surface of the normally relatively smooth capital femoral epiphysis.
Irregular end part of innermost thighbone
Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).
Proximal humeral metaphyseal irregularity
An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.
A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.
Anterior/lateral radial head dislocation
Bony outgrowths that extend laterally from the margin of the metaphysis.
Cone-shaped end part of long bone fused within their wide portion of wide bone
Cone-shaped epiphyses fused within their metaphyses
Overgrowth of the proximal part of the fibula.
Overgrowth of innermost part of calf bone
A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.
The ability of the wrist joints to move beyond their normal range of motion.
A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.
A limited ability of the knee joint extension and flexion.
An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.
A lateral bending or abnormal curvature of the femur.
The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
Streak increase in bone density in wide portion of wide bone
Absence of the proximal radial epiphysis.
A bending or abnormal curvature of the distal portion of the femur.
Premature birth following premature rupture of fetal membranes
A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).
High frequency hearing impairment often involves loss of ability to hear consonants such as s, f, t, and z, even though vowels can be heard normally.
Deterioration or loss of the tissues of the cochlea.
Ossification affecting the external ear cartilage.
Calcification of the auricular cartilage
This is a category for overall abnormal morphology that may be replaced later with more exact descriptions.
Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs.
The sacrum is the large, roughly triangular bone at the base of the verterbal column that is formed by fusion of the five sacral vertebrae S1 to S5.
An abnormality of the intervertebral disk.
Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies.
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Quivering upper heart chambers resulting in irregular heartbeat
The ventricular response to atrial fibrillation is irregularly irregular because of the large number of atrial impulses that transit the atrioventricular node, making the ventricle partially refractory to further impulses. Atrial fibrillation can cause a number of manifestations including excessive ventricular response with angina pectoris or hypotension in susceptible individuals, syncope, systemic embolization, fatigue, or anxiety. These features should be coded separately.
obsolete Dilatation of the ascending aorta
An abnormal localized widening (dilatation) of the abdominal aorta.
An abnormal localized widening (dilatation) of the aortic arch.
obsolete Abnormalities of the peripheral arteries
A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.
Supraventricular arrhythmia includes atrial arrhythmias (atrial tachycardia, atrial flutter, atrial fibrillation), atrioventricular nodal reentrant tachycardia, junctional ectopic tachycardia, atrioventricular reentrant tachycardia (Wolf-Parkinson-White Syndrome), orthodromic or antidromic. Supraventricular arrhythmia is distinct from ventricular tachycardia, which originates in the ventricles.
Abnormal tortuous (i.e., twisted) form of arteries.
Abnormal increase in diastolic blood pressure.
Normal diastolic blood pressure is less than 80 mmHg.
Any structural abnormality of a cardiac atrium.
Abnormality of cardiac atrium morphology
An excessive concavity of the posterior surface of one or more vertebral bodies.
The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies. Neurofibromatosis may be associated with marked scalloping of the posterior borders of the vertebral bodies resulting from intraspinal tumors.
Posterior scalloping of vertebral bodies
Congenital hypertrophy of left ventricle
Compression of the heart caused by rigid, thickened, or fused pericardial membranes.
Enlargement of the chamber of the right ventricle.
Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.
The distinctive feature of APVS is the airway obstruction caused by tracheobronchial compression that results from massive dilatation of the main pulmonary artery (PA) and its first- and second-order branches. Consequential tracheomalacia and bronchomalacia determine the timing and severity of respiratory compromise, as well as the morbidity and mortality of these patients.
An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.
Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.
Premature calcification of mitral annulus
MAC is a common degenerative process involving the fibrous annulus of the mitral valve, and is generally an incidental finding associated with aging. This term applies if MAC occurs at a substantially younger age than usual.
obsolete Episodes of ventricular tachycardia
The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.
Anomalous origin of right pulmonary artery from ascending aorta
The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.
Abnormal narrowing of the coronary artery.
Abnormal calcification of a cardiac valve.
Any defect in the valve connecting the heart and the pulmonary artery.
An impairment of the electrical continuity between the atria and ventricles.
Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.
Blood flow to the aorta distal to the coarctation may be dependent on a patent ductus arteriosus, and hence closure of the ductus arteriosus can lead to serious ischemia of the affected tissues.
A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.
Infantile cardiomyopathy with histiocytoid changes
Myocardial or conduction system hamartoma
This HPO term intends to refer to the histological changes that characterize histiocytoid cardiomyopthy. The disease entity Histiocytoid cardiomyopathy is a rare arrhythmogenic disorder characterized by incessant ventricular tachycardia, cardiomegaly, and often sudden death by age 2 years.
A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).
Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.
Symmetric, concentric, hypertrophic cardiomyopathy
Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.
Total anomalous pulmonary venous connection
Total anomalous pulmonary venous drainage
Pulmonary veins drain through abnormal connections to the right atrium.
Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.
A congenital malformation of the pulmonary valve characterized by leaflet deformation.
Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.
An abnormal increase in magnitude of the pressure in the right atrium.
Elevated mean right atrial pressure (RAP) can be measured by cardiac catheterization.
A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.
Complete heart block with broad QRS complexes
Conduction block in the posterior division of the left bundle branch of the bundle of His.
Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.
An important feature in the differential diagnosis between valvular and subvalvular aortic stenosis is the fact that no ejection sound is present in the latter.
A congenital malformation of the aortic valve characterized by leaflet deformation.
Arteriosclerosis occurring at an age that is younger than usual.
A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.
Complete heart block with narrow QRS complexes
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
This term should not be applied to Ebstein's anomaly of the tricuspid valve (see HP:0010316).
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.
Premature coronary artery atherosclerosis
The presence of a bicuspid pulmonary valve.
The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid.
An abnormal dilatation of lymph vessels in the pericardium.
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.
Proximal finger joint hyperextensibility
Abnormally flat shape of the heads of the metatarsal bones.
The metatarsal heads articulate with the proximal phalanges of the toes.
A sensation of stiffness in the joints that occurs following waking up in the morning.
Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.
Aplasia of the abdominal wall musculature
A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.
The bacterial pathogen Helicobacter pylori has co-evolved with humans and colonizes approximately half of the human population, but only causes overt gastric disease in a subset of infected hosts.
The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.
Esophageal perforation can lead to retained gastric contents, saliva, bile, and other substances entering the mediastinum, resulting in mediastinitis, which in turn may lead to sepsis.
Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.
Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.
The presence of cyst of the intrahepatic bile duct.
Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.
The presence of abnormal calcium deposition lesions in the pancreas.
Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.
Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.
An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.
Chewing and swallowing are interrelated. The act of chewing plays a fundamental role in the process of swallowing food. Mastication prepares food for swallowing by breaking it into small particles. Accordingly, loss of teeth has been associated with swallowing difficulties. Chewing difficulties may be caused by loss of teeth, partial dentures, or by tooth pain. Swallowing difficulties, in contrast, are often characterized by difficulties swallowing liquids, reflux, throat spasms, choking on dry food, or dysphagia.
The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.
Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.
Intrinsic factor absent from gastric juice
This feature can be ascertained by immunoassay of gastric juices.
The presence of multiple diverticula of the intestine.
A collection of pus in the area of the rectum.
Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.
This finding can be observed upon abdominal radiography. The bowel lumen may be slightly dilated. Secondary to the fluid accumulation, there are anatomic and motor alterations in the intestine which are reflected in the roentgenogram.
Presence of multiple adenomatous polyps in the colon.
The presence of developmental dysplasia of the pancreas.
Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture.
The presence of a hypoplastic gallbladder.
A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.
A form of chronic pancreatitis that is characterized by calcification.
The presence of degenerative changes of the liver.
A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.
Failure to form of portions of the abdominal musculature.
Death of digestive organ tissue due to poor blood supply
Developmental hypoplasia of the intestine.
A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.
Underdevelopment of the abdominal musculature.
Hypoplasia of the abdominal wall musculature
Increased anterioposterior diameter of chest
Increased anterioposterior diameter of thorax
Aplasia (congenital absence) of the pectoralis minor.
Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.
Unilateral aplasia of pectoralis major muscle
Unilateral absence of pectoralis major muscle
Abnormal facility in opposing the shoulders
The presence of inflammation of the gastric mucous membrane.
An abnormality of the jejunum, i.e., of the middle section of the small intestine.
A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.
Premature delivery because of cervical insufficiency or membrane fragility
A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy.
Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).
Lack of the cartilage of the nasal septum.
Failure of development of nasal septal cartilage
Posterior positioning of the nasal root in relation to the overall facial profile for age.
The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background.
Decreased size of internal carotid artery
Intimal thickening in the coronary arteries
A separation (dissection) of the layers of an artery.
Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.
Note that the ligamentum arteriosum, which develops from the ductus arteriosus, is attached to the superior surface of the pulmonary artery and the inferior surface of the aortic arch.
Peripheral arterial stenosis with onset before the age of 50 years.
obsolete Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
obsolete Premature peripheral vascular disease
A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.
Abnormal tortuous (i.e., twisted) form of the carotid arteries.
Calcification, that is, pathological deposition of calcium salts in the arch of aorta.
Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.
The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces.
Postural hypotension with compensatory tachycardia
obsolete Peripheral vascular insufficiency
A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.
Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.
Some causes of intimal fibrosis are hypertension, intimal fibroplasia, arterial atheroma, and CADASIL syndrome.
An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.
Fibromuscular dysplasia (FMD) is distinct from atherosclerotic lesions in that FMD lesions do not contain inflammatory cells or lipids. Instead, the pathology of FMD. FMD can result in arterial stenosis or occlusion, and less commonly, arterial dissection or aneurysm formation. FMD can affect almost any artery but most commonly affects the renal arteries, presenting as hypertension, and the carotid and vertebral arteries, leading to ischemic stroke, transient ischemic attacks, headaches, and pulsatile tinnitus.
Anomalous branches of internal carotid artery
obsolete Peripheral artery occlusive disease
Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.
Inflammation of the blood vessels within the brain.
A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.
Unilateral overgrowth of facial tissues, including muscles, bones and skin.
An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.
A pattern of hair growth in which there is hair exnteding from the temples to the lateral eyebrows.
Unusual hairline with hair growth on temples extending to lateral eyebrow
Extension of hair growth on temples to lateral eyebrow
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Recurrent partial dislocations of the mandible.
Decreased density/number and/or decreased diameter of lateral eyebrow hairs.
Abnormal sparseness of the eyebrows laterally.
An abnormality of the complement system.
The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system.
Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.
Underdevelopment of the urinary bladder.
Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.
An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.
Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.
A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.
Several diseases are classified as severe T cell immunodeficiencies: severe combined immunodeficiency syndrome (SCID), reticular dysgenesis, thymic dysplasia (Nezelof syndrome), combined immunodeficiency disease (CID), and Wiskott-Aldrich syndrome (WAS).
Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.
Complete inability of T cells to perform their functions in cell-mediated immunity.
A reduced level of the complement component Factor I in circulation.
Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.
Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.
A general term referring to a defect in immunity resulting from impaired antibody production.
If possible it is preferable to use a precise description of the observed manifestations leading to the inference of humoral immunodeficiency.
A severe form of B lymphocytopenia in which the count of B cells is very low or absent.
Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.
Recurrent streptococcus pneumoniae infections
An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.
A reduced level of the complement component Factor H in circulation.
An abnormality of the physiological functioning of B cells.
This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells.
An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.
obsolete Partial cellular immunodeficiency
Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.
Recurrent Haemophilus influenzae infections
Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.
Increased susceptibility to neisseria meningitidis infections
A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of
Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.
A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.
An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.
Depletion of components of the alternative complement pathway
Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.
Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.
obsolete Exaggerated cellular immune processes
An abnormal reduction of the cell motility of neutrophils.
An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.
obsolete Primary T-lymphocyte immune abnormalities
Decreased numbers of circulating T cells
An abnormal increase from the normal count of B cells.
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
Recurrent episodes of infectious dermatitis
Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection.
A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.
Decreased proportion of CD4-positive T cells
obsolete Markedly reduced T cell function
Persistent overgrowth of Candida albicans in the gastrointestinal tract.
An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.
A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.
Decreased proportion of CD8-positive T cells
A reduced level of the complement component factor B in circulation.
Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.
Gram-negative bacteria have a unique outer membrane, a thinner layer of peptidoglycan compared to gram-positive bacteria, and a periplasmic space between the cell wall and the membrane.
Recurrent gram-negative bacterial infections
A reduced level of the complement component C3 in circulation.
An abnormality of the functioning of any aspect of the alternative complement pathway.
Dysfunctional alternative complement pathway
Absence of specific immunoglobulins directed against a specific antigen or microorganism.
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.
Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).
At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.
Transient hypogammaglobulinemia of infancy
Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.
Recurrent infections at an early age with improvement in later childhood.
Recurrent infections in infancy and early childhood
Hypoplasia of the maxillozygomatic complex.
Decreased size of zygomaticomaxillary bone complex
Deficiency of zygomaticomaxillary bone complex
Hypoplasia of zygomaticomaxillary complex
Underdevelopment of zygomaticomaxillary bone complex
Decreased projection of zygomaticomaxillary bone complex
An increased density in the cranial sutures following obliteration.
The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.
Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.
See pmid:17213440 Figure 1G for an example of an obtuse mandibular angle.
An increase in bone density affecting the calvaria (roof of the skull).
Aplasia or hypoplasia of the paranasal sinuses.
Failure of development of ethmoid sinuses
Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.
Premature closure of the cranial sutures
The presence of calcium deposition in the falx cerebri.
Abnormally increased density of craniofacial bone tissue.
Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.
Increased ossification of facial skeleton
Reduced convexity of the occiput (posterior part of skull).
Reduced convexity of the occiput gives an appearance of flattening. There are no objective measures for convexity of the occiput, and evaluation depends heavily on the experience of the observer. This finding may or may not be accompanied by Brachycephaly (which should be coded separately), and may be observed more frequently when an infant is placed to sleep on his/her back. Occipital plagiocephaly can result from fusion or sclerosis of the lambdoid suture. If unilateral, this is accompanied by unilateral occipital flattening and bulging of the ispilateral frontal bone.
Bony fusion of malleus, incus, and stapes.
Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).
The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.
Progressively increasing bone density of the skull base without significant changes in bony contour.
An abnormally decreased level of immunoglobulin E (IgE) in blood.
A deviation in any aspect of the alternative complement pathway.
The alternative complement pathway is one of three complement pathways, which is an innate component of the immune system's natural defense against infections. The alternative complement pathway has three unique components, factor B, factor D, and properdin.
Abnormality of the alternative complement pathway
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Development of small head that was not present at birth
Postnatal deceleration of head circumference
Vertical bony ridge positioned in the midline of the forehead.
The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead.
The postnatal development of an abnormally large skull (macrocephaly).
The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.
This feature is a characteristic of Schinzel-Giedion midface retraction syndrome.
Midline skin dimples over anterior/posterior fontanelles
A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.
Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.
Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease.
Presence of a monoclonal immunoglobulin M protein in the serum.
This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells.
A transient reduction in the number of erythroblasts in the circulation.
Transient decrease in blood erythrocyte number
An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus.
Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.
A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.
Impaired neutrophil killing of staphylococci
Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.
A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.
T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1).
Larger than normal size of erythrocytes.
Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits.
A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.
Compensated disseminated intravascular coagulation
Chronic disseminated intravascular coagulation
Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.
DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced.
A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.
Pyridoxine-responsive sideroblastic anemia
A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.
Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.
Williams-Fitzgerald-Flaujeac factor deficiency
Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor.
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.
A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.
A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.
A form of hemolytic anemia that can be triggered by exertion.
Average platelet volume below the lower limit of the normal reference interval.
Mean platelet volume (MPV) is a measure of the average size of platelets, with a typical reference range of 7.5 to 11.5 femtoliters (fL).
A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.
T cell chronic lymphocytic lymphoma/leukemia
A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.
Distorted red blood cells resembling keratocytes
Kerato- is derived from the Greek word for horn.
Congenital onset of a marked decrease in the number of granulocytes.
An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.
An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.
Protein C can function as an anticoagulant by irreversibly proteolytically inactivating Factor Va and Factor VIIIa. Therefore, a defect in protein C is associated with an increased risk of thrombosis.
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
There are four main myeloproliferative disroders, 1) chronic myelogenous leukemia (CML); 2) Polycythemia vera; 3) Essential thrombocytosis; and 4) Myelofibrosis.
Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes.
A form of neutropenia with congenital onset.
This term was obsoleted - for annotation of congenital neutropenia, please use the class HP_0001875 Neutropenia and the Modifier Congenital Onset.
A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.
The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".
An abnormality of the zygomatic arch, also known as the cheek bone.
The zygomatic arch is formed by the zygomatic process of temporal bone and the temporal process of the zygomatic bone.
A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.
Abnormality of the kinin-kallikrein system
Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.
While imbalanced hemoglobin synthesis can be inferred from other findings including those of hemoglobin electrophoresis, the determination of this feature requires investigation of hemoglobin synthesis in vitro, e.g., by incubation of washed peripheral blood erythrocytes and bone marrow cells with radioactively labeled leucine followed by column chromatography.
An anomaly of the form or number of cells in the bone marrow.
Abnormality of bone marrow cell morphology
The presence of many cysts in the kidney.
A reduction in the count of nephrons per kidney.
A lack of differentiation between renal cortex and medulla on diagnostic imaging.
Absent renal corticomedullary differentiation
Loss of corticomedullary differentiation
Absence of renal corticomedullary differentiation
Reduced differentiation between renal cortex and medulla on diagnostic imaging.
Loss of definition of corticomedullary differentiation
Reduced renal corticomedullary differentiation
High urine magnesium in the presence of hypomagnesemia.
Increased percent tubular reabsorption of phosphorus
Increased renal tubular phosphate reabsorption
Decreased renal tubular phosphate excretion
A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.
A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney.
This finding is usually shown by renal biopsy. Fibrosis involves an excess accumulation of extracellular matrix and usually results in loss of function when normal tissue is replaced with scar tissue. Tubulointerstitial renal fibrosis, characterized as a progressive detrimental connective tissue deposition on the kidney parenchyma, appears to be a harmful process leading inevitably to renal function deterioration, independently of the primary renal disease which causes the original kidney injury. Epithelial to Mesenchymal Transition (EMT) of tubular epithelial cells which are transformed to mesenchymal fibroblasts migrating to adjacent interstitial parenchyma constitutes the principal mechanism of renal fibrosis along with local and circulating cells. (PMID:20011086)
Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine.
DIsruption and breaking up of the basement membrane of the tubules of the kidney.
Disintegration of the tubular basement membrane
Throughout the rest of the nephron, tubule epithelial cells are attached to the tubular basement membrane that overlies the subjacent interstitial connective tissue. The disruption of cell-basement membrane adhesion results in loss of cell orientation, abnormal cell function, and can lead to tissue destruction.
Tubular basement membrane disintegration
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Cancer starting in small tubes in kidneys
Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma.
Increased pigmentation in sun-exposed areas
A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.
Patchy palmoplantar keratoderma may develop at sites of recurrent friction.
The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
Giant melanosomes can be seen in cafe-au-lait spots and other melanocytic disorders. Giant melanosome and giant melanosome are synonymous. Macromelanosomes can be detected by electron microscopy of the skin.
Macular hypopigmented whorls, streaks, and patches
Loss of all scalp hair with congenital onset.
Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.
Facial telangiectasia in butterfly midface distribution
The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.
Between 4% and 6% of these lesions will develop into a malignant melanoma.
Large hypermelanotic macules with jagged borders.
This type of lesionk is observed in McCune Albright syndrome. The cafe-au-lait macules are larger than those seen in neurofibromatosis, and have more irregular borders. The borders of these macules have been compared to the coast of Maine, whereas the cafe-au-lait spots in neurofibromatosis type 1 have been compared to the coast of California.
Large cafe-au-lait macules with irregular margins
The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.
During the fifth or early sixth embryonic week, occasionally, the gallbladder primordium bifurcates and results in duplication of gallbladder. Duplication results from a split primordium whilst a true accessory gallbladder results from an extra primordium. There are no specific symptoms or signs associated with multiple gallbladders.
Absence or underdevelopment of the femur.
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.
The ability of the interphalangeal joints to move beyond their normal range of motion.
Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.
Absent ossification of the calvaria (vault of the skull).
Osteoporosis affecting predominantly the vertebrae.
Bony fusion of the posterior part of the L5 vertebral body with the sacrum.
Posterior fusion of lumbosacral vertebrae
This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.
Decreased anterioposterior diameter of lumbar vertebral bodies
The ability of the joints of the hand to move beyond their normal range of motion.
Abnormal vertebral segmentation and fusion
Underdevelopment (hypoplasia) of the third toe.
The presence of abnormal calcium deposition of the intervertebral disk.
Multiple intervertebral disk calcifications
Underdevelopment of the ulna on both sides.
A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.
Cutaneous syndactyly between fingers 2 and 5
Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.
Multiple exostoses originating in the fingers and toes.
This feature is characteristic of metachondromatosis (MIM:156250).
A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.
Osteomyelitis caused by infection with the bacteria, salmonella.
Extreme thickening of the cortex of long bones.
Separation of the odontoid process from the body of the axis.
With os odontoideum, the caudal fragment of the odontoid process may provide deficient stability for the atlantoaxial joint and lead to subsequent instability or dislocation and neurological deficits.
Deposition of calcium salts on both sides of the brain.
Rudimentary postaxial polydactyly of hands
An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
A Dupuytren contracture usually affects the fourth and fifth digits (the ring and small fingers). Affected persons are not able to extend the 4th and 5th fingers.
A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.
Tongue-like lumbar vertebral deformities
A form of arthrogryposis primarily affecting the hands and the feet.
Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Dysplastic distal thumb phalanges with a central hole
Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles.
Joints move beyond expected range of motion
Partial fusion of innermost row of wrist bones
Partial fusion of proximal row of carpal bones
Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.
Increased bone density with cystic changes
A bilateral form of triphalangeal thumb.
Abnormal reduction in length of all metacarpal bones.
The ability of the thumb joints to move beyond their normal range of motion.
A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.
An abnormal irregularity of cortical bone.
An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).
The pedicles are two short, thick processes that connect the body of the vertebrae to the arch.
Spinal stenosis with reduced interpedicular distance
Underdevelopment (reduced size) of the tibia.
Partial dislocation of the head of the radius in the posterior direction.
Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.
In medical parlance, this is often referred to as Legg Calve Perthes disease. Here, the name 'Avascular necrosis of the capital femoral epiphysis' is preferred to emphasize that the term refers to a phenotypic feature rather than a disease entity. Avascular necrosis of the femoral head may result in pain in the hip, limp, stiffness and reduced range of motion, and some degree of atrophy of the affected leg. The phrase Legg Perthes syndrome or Legg Calve Perthes disease is also used to refer to a number of diseases, including the idiopathic form and a form that is related to mutation in the COL2A1 gene (MIM 150600). Legg-Calve-Perthes disease usually occurs in boys 4 to 10 years old, and is clinically characterized by limping, hip stiffness, limited range of motion, and can result in restriction of growth of the affected leg and wasting of the muscles of the upper thigh.
Avascular necrosis of the capital femoral epiphysis
obsolete Generalized osteoporosis with pathologic fractures
An increase in bone density affecting the basicranium (base of the skull).
Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull.
Easily subluxated first metacarpophalangeal joints
Contractures of the joints of the lower limbs
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.
Speckled calcifications in bone end parts in neonates
Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.
An abnormally small and flat configuration of the posterior cranial fossa.
Disproportionate shortening of the shankbone
Disproportionate shortening of the shinbone
Disproportionate shortening of the tibia
A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.
Soft tissue syndactyly of toes 2, 3, and 4
Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).
Curvature of outermost bone of little finger
Curvature of outermost bone of pinkie finger
Curvature of outermost bone of pinky finger
Fifth finger distal phalanx clinodactyly
Absence or underdevelopment of the tibia.
Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.
Absence of the distal interphalangeal flexion creases of the fourth finger.
No fourth finger distal interphalangeal crease
Absent fourth finger distal interphalangeal crease
A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine.
An abnormal increase of bone mineral density with generalized involvement of the skeleton.
Increased bone density in skeletal bones
Bilateral hypoplasia of condylar process of mandible
Bilateral hypoplasia of mandibular condylar head
Bilateral hypoplasia of mandibular condylar neck
Decreased height of condylar process of mandible
Decreased length of condylar process of mandible
Abnormal thickening of the cortex of the diaphyseal region of long bones.
Cortical thickening of long bone diaphyses
Abnormally short distal phalanx of toe of all toes.
Shortening of all outermost bone of the toes
Shortening of all distal phalanges of the toes
A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.
Aplasia (absence) of the distal phalanges.
Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Hypoplasia of the middle phalanges of the hand
Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).
One or more bent (flexed) toe joints that cannot be straightened actively or passively.
A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.
obsolete Joint swelling onset late infancy
obsolete Joint dislocations in young adult
Calcific stippling of infantile cartilaginous skeleton
An abnormally round shape of the middle phalanx of the finger.
Cleft (split into two parts) distal phalanx of thumb.
Generalized deposition of calcium salts within the brain.
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Numerous multiple fractures present at birth
Numerous multiple fractures that are present at birth
A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.
In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.
An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred.
Disproportionately short middle and distal phalanges compared to the hand/foot.
Progressive brachydactyly of middle and distal phalanges
Short middle and distal phalanges of digits ii through v
Combined syndactyly and polydactyly of the great toe.
Progressively worsening joint contractures.
Enlarged sagittal diameter of the cervical canal
Multiple bent (flexed) finger joints that cannot be straightened actively or passively.
Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.
Fused long bone of hand with innermost finger bone
A lack of bone mineralization of one or more body of cervical vertebra.
Absent ossification of cervical vertebral bodies
Absence of a digit or of one or more phalanges of a finger.
Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.
Enlargement of the inner surface of the skull bones
Hypertrophy of the internal surface of the cranial bones
Increased ossification of the internal surface of the cranial bones
Thick internal surface of the cranial bones
Excessive growth of inner surface of the skull bones
Hyperostosis of the internal surface of the cranial bone
Hyperostosis of the internal surface of the cranial bones
Overgrowth of the inner surface of the skull bones
Progressive bending or abnormal curvature of the forearm skeleton.
Fusion of innermost shinbone and calf bone
Radial deviation of thumb terminal phalanx
Abnormal mineralization of the metaphyseal area of bones.
Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).
obsolete Chronic recurrent multifocal osteomyelitis
The presence of an abnormal curvature of the cervical vertebral column.
An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
Delayed pneumatization of the mastoid process
Rhomboid or triangular shaped 5th (little) finger middle phalanx.
Rhomboid or triangular shaped fifth finger middle phalanx
Rhomboid or triangular shaped 5th finger middle phalanx
Abnormality of end part of long bone of hand
Aplasia or Hypoplasia affecting the metacarpal bones.
Absent/underdeveloped long bones of hand
Aplasia/Hypoplasia involving the metacarpal bones
Irregularly shaped metacarpal bones of varying degree.
The presence of more than the normal number of metacarpal bones.
Abnormalities affecting the phalanx of finger.
Abnormality of the phalanges of the hand
This category is a supercategory for abnormalties affect phalanges of the hand.
Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
Abnormality of the end part of the hand bones
Abnormality of the epiphyses of the fingers
Abnormality of the epiphyses of the phalanges of the hand
Abnormal epiphysis morphology of the phalanges of the hand
obsolete Abnormal ossification of hand bones
This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions.
Abnormality of the wide portion of the hand bone
Abnormalities of the metaphyses of the hand
Any abnormality of the epiphyses of the phalanges or metacarpal bones.
Abnormality of the end part of the hand bone
Abnormality of the epiphyses of the hand
Abnormalities of shaft of long bone of the hand
Abnormalities of the diaphyses of the hand
An anomaly of the outer shell (cortex) of a hand bone.
Absence (due to failure to form) or underdevelopment of the bones of the hand.
Aplasia/hypoplasia involving bones of the hand
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.
On T1-weighted magnetic resonance imaging, the signal intensity of the normal renal cortex is typically higher than medulla, resulting in easily visualized corticomedullary differentiation (CMD). Loss of CMD can be seen in disorders such as glomerulonephritis, acute tubular necrosis, end-stage chronic renal failure, obstructive hydronephrosis, and acute allograft rejection.
Abnormal renal corticomedullary differentiation
Abnormal arrangement of the structures of the motile cilium.
Abnormal respiratory motile cilium morphology
Bilateral lack of development of the lungs.
Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.
Ventilator dependence with inability to wean
Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.
Note that hypoxia is defined as lack of oxygen in tissues. Hypoxia is usually preceded by hypoxemia (decreased concentration of oxygen in blood).
Emphysematous changes sometimes can be mistaken for multifocal lung cysts. In contrast to true cysts, the cystlike lucencies caused by the destruction of lung parenchyma in emphy-sema do not have walls. Nevertheless, emphysema can be accompanied by multiple cysts, such as bullae, or in association with LCH.
Recurrent episodes of apnea occurring during infancy.
A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.
Manifestations may appear at any age (hoarse or weak voice and frequent upper respiratory infections) but onset usually occurs during infancy (respiratory distress, stridor and an unusual cry).
Abnormal shortening of the larynx in the anteroposterior (front to back) axis.
A decreased concentration of arginine in the blood.
Intermittent abnormally low body temperature
Mixed respiratory and metabolic acidosis
Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.
Acidosis because of respiratory retention of carbon dioxide.
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Persons with type II diabetes mellitus rarely develop ketoacidosis.
A reduction in phenylalanine 4-monooxygenase activity.
Reduced phenylalanine hydroxylase activity
An elevation of alpha-feto protein in the maternal serum.
Elevated maternal serum alpha-fetoprotein
Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.
A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.
Congenital muscular torticollis is thought to result from injury to the sternocleidomastoid muscle during birth trauma, resulting in fibrosis and unilateral shortening of the sternocleidomastoid muscle. Congenital muscular torticollis is thus etiologically and phenotypically distinct from spasmodic torticollis.
Excess skin around the neck, often lying in horizontal folds.
With age and increased vertical growth of the neck, excess nuchal skin may disappear and the neck may become broad or webbed. If the skin folds are vertical or paravertical, the term Neck webbing should be used.
Developmental hypoplasia of the thyroid gland.
Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.
Reduced amount of adipose tissue in the region of the neck.
Restricted neck mobility due to contractures
Restricted neck movement due to contractures
Obstruction of the flow of urine through the ureter.
Increased side-to-side width of one or more phalanges of the fingers or toes.
Severely shortened metacarpal with a cuboidal appearance.
The metacarpals are normally tubular in appearance.
Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
Delayed phalangeal epiphyseal bone maturation
Delayed bone maturation of end part of digital bone
Delayed phalangeal epiphyseal ossification
Reduced proximal interphalangeal joint space
Metaphyseal cupping affecting the metacarpal bones.
Cupping of wide portion of long bone of hand
Cone-shaped end part of digital bones 2 to 5
Cone-shaped epiphyses of phalanges 2 to 5
Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.
Abnormal increase in width of the distal region of the metacarpal bones.
A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.
Tombstone-shaped innermost digital bones
A delay in the process of formation and maturation of the epiphysis of one or more long bones.
Severe delay in maturation of wrist bone
A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Metacarpal/phalangeal joint contractures
In the literature this has been called metacarpophalangeal camptodactyly, but the term camptodactyly should be researved for a painless flexion contracture of the proximal interphalangeal (PIP) joint.
Absence of the proximal interphalangeal flexion creases of the fingers.
1-5 finger complete cutaneous syndactyly
Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).
Syndactyly with fusion of fingers three and four.
Partial or complete syndactyly 3rd-4th fingers
Increased mobility of one ore more metacarpophalangeal joint.
Metacarpophalangeal joint hyperextensibility
Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.
Small dilated blood vessels in fingerpads
Metacarpal that becomes thinner toward the distal end.
Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).
Short (hypoplastic middle phalanx of finger, affecting all fingers.
Disproportionately short middle phalanges
Shortening of all middle phalanges of the fingers
Expanded phalanges with widened medullary cavities
The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).
Hypoplasia of all of the distal phalanx of finger.
Shortening of all outermost bones of the fingers
Shortening of all distal phalanges of the fingers
Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.
A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.
Increased length of the proximal phalanx of finger.
Rounding and broadening of the tufts of the distal phalanges.
This designation is supposed to refer to the widening of the meaty end of a chicken drumstick (lower leg).
Abnormally large size of the metaphyseal epiphyses.
Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.
Premature fusion of end part of digital bone
Premature fusion of phalangeal epiphyses
Congenital hypoplasia of proximal phalanx of finger or all fingers.
Shortening of all innermost bones of the fingers
Shortening of all proximal phalanges of the fingers
A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.
Increased side-to-side width of the metacarpal epiphyses.
A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.
Swan neck-like deformities of the fingers
The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.
Proximal interphalangeal joint synostoses
Increased length of multiple or a single phalanx of finger.
Bending or curvature of a thumb towards the ulnar side (towards the ring finger).
obsolete Finger joint hyperextensibility
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Irregular morphology of one or more metacarpal bones.
Short long bone of hand with rounded innermost ends
Short metacarpals with rounded proximal ends
Soft tissue swelling of interphalangeal joints
Prominent proximal interphalangeal joints
A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.
Flattened, squared-off end part of tubular bones
Flattened, squared-off epiphyses of tubular bones
Increase in bone denisty in the diaphyseal (shaft) region of a metacarpal bone.
Metacarpal diaphyseal endosteal sclerosis
Thickening of connective tissue of innermost finger bone
Proximal phalangeal periosteal thickening
Two carpal ossification centers present at birth
Extra bone on end of second long bone of hand
Poorly defined or shallow palmar creases.
Enlarged proximal interphalangeal joints
Phalanges of the fingers becoming thinner toward the distal end.
The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.
Increased mobility of outermost hinge joint
Hypermobility of distal interphalangeal joints
Decreased range of movement range in hinge joints
Decreased movement range in interphalangeal joints
Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.
Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.
This anomaly is characteristic for brachydactyly type C.
Hypersegmentation of proximal phalanx of second finger
Metaphyseal cupping affecting the proximal phalanges.
Metaphyseal cupping of proximal phalanges
Partial-complete absence of 5th digital bone
Partial-complete absence of 5th phalanges
Thin proximal phalanges with broad epiphyses
Thin innermost bone with broad end part of the hand bone
removed the logical def: 'has part' some (('decreased thickness' and ('inheres in' some 'proximal phalanx of manus') and ('has modifier' some abnormal)) and ('has part' some ('increased width' and ('inheres in' some 'epiphysis of proximal phalanx of manus'))) and ('has modifier' some abnormal))
Thin proximal phalanges with broad epiphyses of the hand
Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.
Fifth finger single interphalangeal crease
Single interphalangeal crease of fifth finger
Limited mobility of innermost hinge joint
Limited mobility of proximal interphalangeal joint
A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).
Tapering pointed ends of distal finger phalanges
Osteoarthritis of the first carpometacarpal joint
Expanded metacarpals with widened medullary cavities
Osteoarthritis of the distal interphalangeal joint
An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.
Decreased width of the metacarpal bones (that is, reduced diameter).
Abnormal shortening of all middle phalanges of toes.
Shortening of all the middle bones of the toes
Shortening of all middle phalanges of the toes
An abnormal limitation of the mobility of the wrist.
Swelling of proximal interphalangeal joints
An increased concentration of alpha-fetoprotein.
An elevation of alpha-feto protein, which is produced by the fetal liver and the yolk sac and may be increased in the serum of pregnant women with a fetus with some types of developmental anomaly such as open neural tube defects and omphalocele.
Abnormality of phalangeal joints of the hand
Abnormality of the small joints of the hand
Abnormal phalangeal joint morphology of the hand
A small/hypoplastic or absent/aplastic 5th finger.
Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.
Abnormality of the end part of the index finger bone
Abnormality of the epiphyses of the 2nd finger
A small/hypoplastic or absent/aplastic 2nd finger.
Small/hypoplastic or absent/aplastic fingers.
Intermittently increased size of the spleen.
The presence of lymphangiectasis in the pancreas.
Reduced number of beta cells in the pancreatic islets of Langerhans.
The beta cells are responsible for producing insulin and amylin.
Hyperplasia is defined in MPATH as an increase in cell numbers in comparison to normal as a consequence of increased cell proliferation. Hyperplasia is a non -neoplastic process.
The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.
A generalized form of developmental hypoplasia of the dental enamel.
The presence of multiple embedded tooth germs which have failed to erupt.
A decreased amount of enamel mineralization.
Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.
There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum.
Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.
Failure of development of central incisor
The presence of discolored lateral incisors.
Severe delay of eruption of permanent teeth
Marked delay in eruption of permanent teeth
The average ages for eruption of the primary teeth are: 6 months: lower central incisor, 7 months: upper central incisor, 8 months: upper lateral incisor, 9 months: lower lateral incisor, 12 months first molars, 18 months, canines, 2 years, second molars.
Agenesis of upper secondary incisor or of upper central primary incisor.
Failure of development of maxillary central incisor
Developmental hypoplasia of the dental enamel.
Note that the term enamel dysplasia was previously used for this feature but is no longer recommended.
Prolonged bleeding post dental extraction sufficient to require medical intervention.
Prolonged bleeding after dental extraction
Dagger-shaped calcifications in the dental pulp.
Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.
The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.
Solitary median maxillary central incisor
Solitary midline maxillary central incisor
Solitary median maxillary central incisor syndrome
If a single maxillary central incisor is present but not positioned in the midline, this could be hypodontia, but this cannot be evaluated without a radiograph.
Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.
Failure of eruption of multiple adult teeth
Failure of eruption of multiple permanent teeth
Loss of the primary (also known as deciduous) teeth before the usual age.
Premature exfoliation of deciduous teeth
The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth.
Failure of dental eruption due to mucopolysaccharidoses
Failure of tooth eruption due to mucopolysaccharidoses
Impacted teeth due to mucopolysaccharidoses
Unerupted dentition due to mucopolysaccharidoses
Unerupted teeth due to mucopolysaccharidoses
Buried teeth encased in mucopolysaccharide
Underdevelopment of the alveolar process (also known as alveolar bone).
Decreased size of alveolar process of jaw
Underdevelopment of alveolar process of jaw
The alveolar process is a thickened ridge of bone that contains the tooth sockets on the mandible and maxilla.
The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.
A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.
Developmental hypoplasia of the primary teeth.
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. Persistence of primary teeth may be related to agenesis of the permanent teeth. Molar primary teeth may be persistent because of the agenesis of the premolars.
Premature tooth eruption of the permanent dentition.
Precocious eruption of secondary dentition
An abnormality of themorphology of secondary premolar tooth.
An abnormal conical morphology of the primary or permanent mandibular incisors.
Peg-shaped upper lateral secondary incisor tooth.
An abnormality of morphology of primary molar.
Abnormality of deciduous molar morphology
An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.
A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Failure of development of permanent teeth
Failure of development of secondary teeth
Obliteration of the pulp chambers owing to mineralization of the dental pulp.
Lack of tooth eruption of the secondary dentition.
Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.
Agenesis of lower secondary incisor or lower primary incisor.
Failure of development of mandibular central incisor
Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors.
Shovel-shaped maxillary central incisors
An crumpled radiographic appearance of the long bones, as is the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.
An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.
The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.
Increased width of the diaphysis of long bones.
The femur is shortened and displays flaring (widening) of the metaphyses.
Removed logical definition that used anonymous class. Requested new term from UBERON: 'proximal tibia'
A bent (flexed) knee joint that cannot be straightened actively or passively.
Absent or nearly absent fibula. (Does not include aplastic)
Progressive bending or abnormal curvature of a long bone.
An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.
previous def: 'has part' some (clavate and ('inheres in' some 'Distal end of femur (adult human)') and ('has modifier' some abnormal))
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Underdevelopment of the distal epiphysis of the radius.
Increased width of the distal part of the shaft (metaphysis) of the femur.
Broad outermost wide portion of thighbone
An abnormal anterior bending or curvature of the tibia.
Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.
An abnormal increase in the bone density of the long bones.
A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).
An abnormal flattening of the distal epiphysis of femur.
An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.
previous def: 'has part' some (clavate and ('inheres in' some 'Proximal end of femur (adult human)') and ('has modifier' some abnormal))
Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.
Progressive bending or abnormal curvature of the leg.
A bending or abnormal curvature of the distal portion of the tibia.
Increased density of the compact bone of long bone.
Note that compact bone and cortical bone are synonymous.
The presence of asymmetric developmental dysplasia of the radius.
Peg-like central prominence of distal tibial metaphyses
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
An anomaly of the metaphysis of the proximal femur (close to the hip).
Abnormal wide portion of innermost thighbone
Proximal femoral metaphyseal abnormality
Proximal radial shortening owing to a congenital defect of development.
Disproportionate prominence of the femoral medial condyle
An abnormal enlargement of the distal epiphysis of the femur.
Enlargement of the outermost thighbone end part
Enlargement of the distal femoral epiphysis
Increased density of long bone diaphyses
Underdeveloped innermost upper end of calf bone
Multicentric ossification of proximal femoral epiphyses
A developmental anomaly with lateral displacement of the femoral head.
Lateral displacement of the femoral head
Formation of bone in the patella later than normal.
The patella initially ossifies at between three and five years, commencing as multiple foci that rapidly coalesce. As the patellar ossification center enlarges the expanding margins may be irregular and associated with accessory ossification centers. These are most common superolaterally and may lead to the development of a bipartite patella. The bipartite patella has cartilaginous continuity despite the appearance of osseous discontinuity. The patella expands to all cartilaginous contours during late adolescence when the epiphyseal ossification centers around the knee are also in the final stages of maturation. The only cartilage not replaced is that occupying the superior two-thirds of the articular surface (the lower one-third is covered by the fat pad). The subchondral plate does not assume the actual articular contours until the late stages of osseous maturation (after ten to twelve years). Accordingly, typical measurements such as medial and lateral angulation cannot be accurately done prior to the final stages of patellar ossification expansion and maturation (pmid:6729496).
Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.
Partial dislocation of the ulna in the dorsal direction.
Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.
A generalized decrease in bone mineral density.
The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future.
Thickening of the periosteum of long bone.
Periosteal thickening of long tubular bones
A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle.
A limitation of the range of movement of the shoulder joint.
Decreased width of the diaphysis of long bones.
An abnormal anterior curvature of a long bone.
An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.
Abnormality of the pancreatic islet cells
Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.
Abnormality of alveolar processes of jaw
Premature loss of teeth not related to trauma or neglect.
Primary teeth are also called temporary teeth or deciduous teeth.
An abnormality of the morphology of the tooth.
The presence of an altered number of of teeth.
Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth.
Failure of one or more incisors to develop.
A bending or abnormal curvature of a long bone.
Curvatures of a long bone such as femur, tibia, or fibula.
A bending or abnormal curvature affecting a long bone of the arm.
Abnormality of the wide portion of the femoral bone
Abnormality of the wide portion of the lower-limb bone
Abnormality of the wide portion of shankbone
Abnormality of the wide portion of shinbone
Absence or underdevelopment of the fibula.
Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.
Aplasia/hypoplasia involving bones of the lower limbs
Aplasia/Hypoplasia involving bones of the feet
Absence or underdevelopment of the ulna.
Absence/underdevelopment of inner forearm bone
Hypoplasia or unilateral/bilateral absence of ulna
Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.
Absent/underdeveloped bones of the upper limbs
Aplasia/hypoplasia involving bones of the upper limbs
Absence or underdevelopment of the patella.
An anomaly of a growth plate of a femur.
An anomaly of one or more epiphyses of one or both legs.
Abnormal shape of end part of lower limb end bone
Abnormality involving the epiphyses of the lower limbs
Abnormality of lower limb epiphysis morphology
A small/hypoplastic or absent/aplastic radius.
Absence or underdevelopment of the radius bone of the arm
Absence or underdevelopment of the carpal bones.
Aplasia/Hypoplasia involving the carpal bones
Absence (due to failure to form) or underdevelopment of one or more forearm bones.
Aplasia/hypoplasia involving forearm bones
A structural abnormality of a diaphysis of the arm or leg.
Abnormality involving the diaphyses of the limbs
Abnormality of shaft of long bone of the limbs
An anomaly of one or more epiphyses of a limb.
Abnormal shape of end part of limb bones
Abnormality involving the epiphyses of the limbs
An epiphysis is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Abnormality of limb epiphysis morphology
Absence (due to failure to form) or underdevelopment of the humerus.
Absent/underdeveloped long bone in upper arm
An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.
COPD is usually conceptualized as a disease entity. It is heterogeneous histologically and pathogenically, and conventionally includes emphysema and chronic bronchitis, It is included as a phenotype term as COPD is often annotated as a feature of other diseases.
An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.
The laryngeal stridor sound is usually heard during inspiratory phase, also called inspiratory stridor, and may accompanied by inspiratory difficulty in breathing. It may be due to abnormal flaccidity of the epiglottis or arytenoids.
Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates.
Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.
This feature can be observed by histological examination of lung tissue. The feature can be seen in pulmonary veno-occlusive disease (PVOD). PVOD is characterised by diffuse occlusion of the pulmonary veins by fibrous tissue, pulmonary venous congestion and associated complications including severe pulmonary hypertension (pHTN), non-cardiogenic pulmonary oedema, hypoxia and right-ventricular failure. Clinical presentation is typically non-specific, including dyspnoea, fatigue and cough.
Progressive pulmonary function impairment
Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.
A lymphocyte-predominant infiltration of the lungs characterized by bibasilar pulmonary infiltrates with dense interstitial accumulations of lymphocytes and plasma cells.
Associated clinical manifestations often include fever, cough, and shortness of breath.
According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.
An abnormality of the pulmonary lymphatic chain.
Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
Abnormality in area between air sacs in lung
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent pneumonia is defined as two or more episodes in a single year, or at least three episodes ever, with radiographic clearing of densities between occurrences.
A recurrent hemorrhage occurring within the lung.
Obstruction of conducting airways of the lung.
An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.
Recurrent infections in bronchi and lungs
Underdevelopment of the bronical cartilage
Chronic obstructive airway disease from birth
A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.
Extrapulmonary sequestra nearly all appear on the left side.
Primary pulmonary dysgenesis, unilateral
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Decreased activity of complex III of the mitochondrion in the liver.
Complex III, also known as ubiquinol-cytochrome c oxidoreductase or cytochrome bc1 complex, is a multisubunit integral membrane complex of the mitochondrial transport chain, which catalyzes electron transfer from ubiquinol to cytochrome c and couples this process to electrogenic translocation of protons across the mitochondrial inner membrane. Mitochondrial complex III is integrated in the inner mitochondrial membrane.
Decreased mitochondrial complex III activity in liver tissue
The presence of abnormal calcium deposition in the liver.
Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.
Inflammation of the liver due to infection with a virus.
Malformation of the hepatic ductal plate
Intermittently increased size of the liver.
An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.
Lipid droplets, rich in triglycerides and cholesterol esters, are cellular ipid storage organelles.
An increase in the amount of glycogen stored in hepatocytes compared to normal.
Glycogen acts as secondary long-term energy storage in the liver and other organs. Its intracellular concentration can be increased in some disease states such as obesity.
The presence of reduced numbers of intrahepatic bile duct than normal.
Reduced number of intrahepatic bile ducts
Intrahepatic cholestasis with episodic jaundice
A type of cirrhosis characterized by the presence of large regenerative nodules.
In macronodular cirrhosis (post-necrotic cirrhosis), the nodules are larger than 3 mm.
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
Portal fibrosis can be seen in viral hepatitis and other types of liver disease.
An abnormal reduction in the number of mitochondria in hepatocytes.
Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.
This feature has been observed in individuals withe mitochondrial DNA depletion syndrome-6 (MTDPS6), also known as Navajo neurohepatopathy [MIM:256810].
The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.
In congenital pseudarthrosis of the clavicle, the two primary ossification centers fail to unite, probably due to a disruption of diaphyseal membranous ossification. See pmid:22295044, Figure 1, for the radiographic appearance of this feature.
Congenital pseudoarthrosis of the clavicle
An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .
Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.
Fusion of shoulder blade to long bone in upper arm
Loss of the ability to move the diaphragm for respiratory motions. Patients with complete diaphragm paralysis complain of gross orthopnoea, disturbed sleep and early morning headaches. They have shortness of breath on minimal exertion and, because they sleep poorly, they experience daytime fatigue.
Irregular ossification at anterior rib ends
Progressive calcification of costochondral cartilage
Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.
Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.
The costal cartilage typically calcifies with advancing age and is therefore easier to identify on radiographs obtained in older patients.
Underdevelopment of the middle portion of the clavicle.
Underdeveloped middle portion of the collarbone
A larger than usual distance between the left and right nipple.
A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.
Decreased number of sternal ossification centers
Lack of formation and mineralization of the ribs in utero.
Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.
Abnormal increase in density of the tissue at the costochondral junctions.
Breast carcinoma that is bilateral or otherwise multifocal.
Lack of formation of mineralized bony tissue of the sternum.
Small outermost segments of shoulder blade
Small distal segments of the shoulder blade
Underdeveloped outermost segments of shoulder blade
Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.
Osteosclerosis of ribs (increased density related to increased bone mass).
Developmental defect resulting in congenital absence of the middle portion of the clavicle.
Abnormally reduced diameter (cross section) of the clavicles.
Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.
Chest wall pain in the area of the costochondral junctions.
Costochondral pain is in the differential diagnosis of chest pain, being a relatively benign cause compared to myocardial ischemia. Costochondral pain can be caused by costochondritis.
Thickening of the lateral border of the shoulder blade
Thickening of the lateral border of the scapula
Absence of the clavicles as a developmental defect.
An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).
The coat hanger abnormality of the ribs is said to be a useful diagnostic marker of paternal uniparental disomy of chromosome 14.
Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.
A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192).
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
A premature ventricular contraction may be perceived as a skipped beat or as palpitations.
An abnormality of filling of a ventricle with blood during diastole.
Two diastolic properties, the rate of ventricular relaxation and the ventricular compliance are especially important determinants of ventricular filling.
A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.
Ventricular preexcitation with multiple accessory pathways
The presence of excessive connective tissue in the endocardium.
Abnormal tortuous (i.e., twisted) form of the aorta.
A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.
Calcification affecting the muscle layer of the heart.
Abnormally short chordae tendineae of the tricuspid valve.
The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve.
Short chordae tendineae of the tricuspid valve
Early progressive calcific cardiac valvular disease
A defect of the atrioventricular septum of the heart.
During atrioventricular valvuloseptal morphogenesis, the endocardial cushions expand as they are infiltrated by extracellular matrix secreted from the surrounding myocardium. The cushions then fuse and are remodeled to form the atrioventricular valves and septa. Failure of this process results in AVSD, with the degree of severity dependent on the stage at which the developmental failure occurs. AVSD are a spectrum of cardiac malformations that result in a persistent common atrioventricular canal.
Polymorphic and polytopic ventricular extrasystoles
A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
Aneurysm is considered a severe form of dilatation. Ventricular aneurysms may have rim of calcium in the affected regions of the ventricular wall (which can become fibrotic). Thromboembolism is a potential complication. Ventricular aneurysms can be diagnosed by ventriculography.
A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.
Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.
Any structural abnormality of the coronary arteries.
An abnormality of an atrioventricular valve.
Abnormality of the atrioventricular valves
Abnormal atrioventricular valve morphology
An abnormality of the hepatic vasculature.
Absence or underdevelopment of the clavicles (collar bones).
Aplasia/Hypoplasia involving bones of the thorax
Hereditary nonpolyposis colorectal carcinoma
A form of acute leukemia characterized by excess lympoblasts.
The presence of an adenocarcinoma of the pancreas.
Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.
The presence of an follicular adenocarcinoma of the thyroid gland.
A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.
Papillary renal cell carcinoma type 2 is a common feature of hereditary leiomyomatosis and renal cell cancer; HLRCC (OMIM 150800).
A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.
The presence of an adenoma in the cortex of the kidney.
Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Transitional cell carcinoma of the bladder
A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
Pheochromocytoma originating from the adrenal medulla.
A tumor (abnormal growth of tissue) of the stomach.
The presence of leiomyosarcoma of the skin.
The presence of a malignant neoplasm of the genital system.
The presence of a carcinoma in the renal pelvis.
A slowly growing malignant neoplasm derived from cartilage cells.
The presence of renal cell carcinoma in the renal papilla.
A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.
A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements.
The presence of a papillary adenocarcinoma of the ovary.
A malignant plasma cell tumor growing within soft tissue or within the skeleton.
A non-malignant neoplasm of the genitourinary system.
A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.
A kind of thyroid adenoma characterized by the presence of oxyphil cells.
Oxyphil cells of thyroid, defined by the Cell Ontology as oncocytes located in the thyroid, are also known as Hurthle cells.
Underdevelopment of the paranasal sinuses.
Decreased pneumatization of paranasal sinus
Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).
Anterior horn cells are efferent neurons that passes from the central nervous system or a ganglion toward or to a muscle. They conduct nerve impulses that lead to movement of muscles.
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.
White mater abnormalities in the posterior periventricular region
Absence or underdevelopment of the vermis of cerebellum.
Aplasia/Hypoplasia of the cerebellar vermis
A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.
A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.
Polymicrogyria, anterior to posterior gradient
Pallor of dorsal columns of the spinal cord
A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
obsolete Severe neonatal hypotonia in males
A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.
Developmental stagnation at onset of seizures
A type of Horner syndrome with congenital onset.
Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.
Underdevelopment of the ventral portion of the pons.
Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.
Spinal nerve root neurofibromas, symmetric, multiple
Symmetric spinal nerve root neurofibromas
The occurrence of repeated episodes of generalized muscular hypotonia.
Wasting (atrophy) of the vermis of cerebellum.
This sign can be visualized with brain MRI.
A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.
A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
Sensorimotor polyneuropathy affecting arms more than legs
A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.
A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Symmetrical progressive peripheral demyelination
Atrophy affecting the pons and the cerebellum.
A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
A decrease in the ability to perceive vibration in the distal portions of the limbs.
The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.
Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.
We choose to define the concept of borderline intellectual disability onthe basis of the commonly used range of 70-85 (IQ), but note that in DSM-5, IQ boundaries are no longer part of the classification.
Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.
Lateral rectus muscle denervation paresis
The presence of calcium deposition within brain structures that is present already at the time of birth.
Inability to walk by childhood/adolescence
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.
Intraaxonal accumulation of curvilinear profiles
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Abnormal aggressive, impulsive or violent behavior
Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.
Excessive number of small gyri (convolutions) on the surface of one side of the brain.
Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.
The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.
Nystagmus dating from or present at birth.
A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
Decreased touch sensation in extremities
A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.
A complete loss of the ability to perceive vibration.
An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.
Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.
Dilatation of lateral cerebral ventricles
An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Abnormal brainstem auditory-evoked potentials
Auditory brainstem response audiometry typically uses a click stimulus that generates a response from the basilar region of the cochlea.
Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
The presence of calcium deposition in the choroid plexus.
A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.
The disease acute necrotizing encephalopathy is characterized by acute onset encephalopathy with rapid, progressive neurologic deterioration, seizures and symmetric multifocal brain lesions. This term is kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted.
Any abnormal alteration of an individuals cricadian rhythm that affects the timing of sleeping and being awake.
Leukoencephalopathy that gets more severe with time.
Slowly progressive spastic quadriparesis
A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.
Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
A type of gliosis that occurs in the vicinity of injured neurons.
Focal proliferation of glial cells in the basal ganglia.
Gliosis refers to a proliferation of astrocytes in an area of damage of nervous tissue.
Loss of Purkinje cells in the cerebellar vermis
Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.
Distal motor neuropathy is a bundled term that should not be used if more detailed information about the phenotype is available.
The formation of small cavities in the tissue of the basal ganglia.
This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images.
An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.
Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.
The fourth cranial nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit.
An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Attention deficit-hyperactivity disorder
Childhood attention deficit/hyperactivity disorder
Attention deficit hyperactivity disorder
The word Anesthesia is occasionally used to refer to lack of pain sensation, although it is more usually used to denote a medical procedure design to relieve pain.
Cerebral hemorrhage that occurs before birth.
Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.
A morphological abnormality of the metencephalon.
The metencephalon comprises the pons and the cerebellum; contains a portion of the fourth ventricle; and the trigeminal nerve, abducens nerve, facial nerve, and a portion of the vestibulocochlear nerve. The metencephalon is part of the hindbrain.
A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.
Saccular aneurysms are often said to have a berry-shaped appearance, whence the name.
The presence of developmental dysplasia of the cerebellum.
Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).
Partial or complete wasting (loss) of dentate nucleus.
Multifocal cerebral white matter abnormalities
Generalized atrophy or hypoplasia of the cerebrum.
Generalized cerebral degeneration/underdevelopment
Absent inferior half of the cerebellar vermis
Aplasia of the inferior half of the cerebellar vermis
Progressive loss of previously present language abilities.
Disorganization of the anterior cerebellar vermis
Removed logical definition that used an anonymous class. Requested new term in UBERON: proximal musculature of limb
Peripheral sensory neuropathy affecting primarily distal sensation.
Underdevelopment of the inferior portion of the vermis of cerebellum.
Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.
Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
This is a classic type of extrapyramidal movement disorder.
A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.
Decreased amplitude of sensory action potentials
An increase in size of the third ventricle.
The thrid ventricle is midline between the two lateral ventricles, and it communicates between them and the fourth ventricle.
Fasciculations affecting the tongue muscle and the musculature of the face.
An excessive number of small gyri (convolutions) on the surface of the brain in the frontoparietal region.
Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle.
A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
Hypointensity of cerebral white matter on MRI
Prolonged somatosensory evoked potentials
Encephalopathy with onset in the infantile period.
A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.
Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.
A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Symmetrical, proximal limb muscle atrophy
Proximal amyotrophy usually has a roughly symmetric distribution.
Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.
This is a bundled term used to refer to the symptomatology associated with the Guillain-Barre syndrome.
Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.
Nerve damage causing decreased feeling and movement
Progressive extrapyramidal movement disorder
Stiffness of the limbs (acondition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.
A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).
Progressive extrapyramidal muscular rigidity
A diffuse loss of myelin from nerve fibers in the central nervous system.
Diffuse demyelination of the cerebral white matter
obsolete Corticospinal tract disease in lower limbs
A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.
Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome.
Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.
Involuntary dystonic or choreiform movements
A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.
This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles.
Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.
A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.
Hyperintense lesions in the basal ganglia on MRI
Focal T2 hyperintense basal ganglia lesion
A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.
Facial diplegia (that is, bilateral facial palsy) with congenital onset.
Generalized tonic-clonic seizures on awakening are a form of Generalized tonic-clonic seizures that occur upon awaking.
Morning generalized tonic-clonic seizures
Generalized tonic-clonic seizures on awakening
Atherosclerosis (HP:0002621) of a cerebral artery.
This finding is demonstrated by cerebral computer tomography or magnetic resonance imaging.
Enlargement of all or parts of one cerebral hemisphere.
The affected hemisphere may have focal or diffuse neuronal migration defects, with areas of polymicrogyria, pachygyria, and heterotopia.
Generalized tonic-clonic seizures that are triggered by flashing or flickering light.
Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.
Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).
Facial paralysis can be caused by compression of the facial nerve.The main difference between facial paralysis and Palsy is cause for the paralysis can be identified, be it a tumor, infection, or nerve damage. Facial paralysis, in most cases, also appears more permanent than Bell's Palsy, with cases lasting for years to life if a patient doesn't seek treatment.
Muscular atrophy affecting the lower limb.
Episodes of muscle weakness associated with elevated levels of potassium in the blood.
Demyelination of peripheral motor nerves.
Demyelinating motor neuropathy demonstrates slow motor nerve conduction velocities with reduced amplitudes of motor nerve conduction and prolonged distal latencies.
Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum.
The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.
Intracerebral periventricular calcifications
A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.
Decreased distal sensory nerve action potential
Spinocerebellar tract disease in lower limbs
Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.
Cerebral calcification, nonarteriosclerotic
Nonarteriosclerotic cerebral calcification
A type of gait ataxia displaying progression of clinical severity.
Decreased number of small peripheral myelinated nerve fibers
Alternating and recurrent weakness of the external ocular muscles.
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Presence of these signs can indicate affection of the corticospinal (pyramidal) tracts.
A severe loss of myelin from nerve fibers in the central nervous system.
Severe demyelination of the white matter
A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.
A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.
Midbrain and mesencephalon are synonymous.
Defective structure and function of myelin sheaths of the white matter of the brain.
White matter dysmyelination/demyelination
An abnormality characterized by chronic impairment of the normal functioning of the axons.
This feature is assayed with sural nerve biopsy and is generally taken to be indicative of neuropathy in other peripheral nerves.
Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
An atypical absence seizure has less abrupt onset and offset of loss of awareness than typical absence seizures. They are often associated with other features such as loss of muscle tone of the head, trunk or limbs (often a gradual slump) and subtle myoclonic jerks. Atypical absence seizures often occur in individuals with intellectual impairment.The loss of awareness may be minimal with the patient continuing an activity, but more slowly or with mistakes.
Progressive mental and motor deterioration
An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.
A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.
Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.
Facial palsy caused by enlargement of cranial bones
Facial palsy caused by excessive growth of facial bones
Facial palsy caused by overgrowth of cranial bones
Facial palsy secondary to hypertrophy of cranial bones
Facial palsy secondary to cranial hyperostosis
Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.
Pendular nystagmus refers to the situation in which the eye appeared to oscillate with equal speed in either direction, in contrast to jerk nystagmus, in which the movement in one direction is faster than in the other.
Fasciculations affecting the musculature of the arms and legs.
A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.
Chaotic rapid conjugate ocular movements
Dysfunction of lateral corticospinal tracts
A loss of myelin from nerve fibers in the central nervous system.
CNS demyelination affects the white matter, which consists mostly of axons with their envelope of myelin, along with two types of neuroglia: oligo-dendrocytes and astrocytes.
obsolete White matter neuronal heterotopia
Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.
Deep cerebral white matter hypodensities
See also defintion for "Periventricular white matter hypodensities". These two entities are in contra-distinction to each other.
A type of dystonia that affects all or most of the body.
Mixed demyelinating and axonal polyneuropathy
Reduced ability to perceive painful stimuli.
Focal clonic seizures affecting one side of the face.
Used to describe rolandic seizures in familial epilepsy syndromes, such as Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp (PMID 10072049).
Underdevelopment of the frontal lobe of the cerebrum.
Bilateral convulsive seizures are focal seizure with secondary bilateral motor phenomena, not primary generalized seizures.
Partial seizures with secondary generalization
Secondarily generalised tonic-clonic seizures
Secondary generalized tonic clonic seizures
Secondary generalized tonic-clonic seizures
Generalized tonic-clonic seizures with focal onset
Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.
Recurrent cerebellar and extrapyramidal encephalopathy
A saccade that overshoots the target with the dynamic saccade.
Inability to perform rapid, alternating movements.
Diffuse swelling of cerebral white matter
Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].
Abnormal morphology of the limbic system
Atrophic and degenerative changes in the spinal cord
Atrophy/Degeneration involving the spinal cord
A type of tremors that is triggered by holding an arm in a fixed position.
Seizures of which initial semiology indicates, or is consistent with, initial activation of only part of one cerebral hemisphere.
Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost).
Atrophy/Degeneration affecting the cerebellum
The pons is the portion of the brainstem superior to the medulla oblongata.
Aplasia/Hypoplasia of the pyramidal tract
Aplasia/Hypoplasia involving the corticospinal tracts
Atrophy/Degeneration affecting the brainstem
Atrophy/Degeneration affecting the central nervous system
The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.
Atrophy/Degeneration affecting the cerebrum
Absence or underdevelopment of the corpus callosum.
Complete or partial absence of the corpus callosum
Hypoplasia or absence of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum
The presence of atrophy (wasting) of the corpus callosum.
Atrophy/Degeneration of the corpus callosum
Atrophy/Degeneration involving the corticospinal tracts
Atrophy/Degeneration involving the caudate nucleus
An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.
An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.
The choroid plexus is a structure in the ventricles of the brain where cerebrospinal fluid (CSF) is produced.
An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.
Abnormality of somatosensory evoked potentials
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
A tumor (abnormal growth of tissue) of the genitourinary system.
Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.
A developmental defect resulting in the congenital absence of skin on the scalp.
A type of ichthyosiform erythroderma with postnatal onset.
Postnatal-onset ichthyosiform erythroderma
Photosensitivity of the skin occurring early in life.
Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.
Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
Nonepidermolytic palmoplantar keratoderma
Excessive skin wrinkling on back of hands and fingers
Excessive skin wrinkling on dorsum of hands and fingers
Increased susceptibility to infection by the protozan parasite of the genus Leishmania.
Tegumentary leishmaniasis susceptibility
obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
An abnormally increased perspiration on palms and soles.
Naevus flammeus localised in the skin of the forehead.
Wrinkled skin of hands and feet in newborn
Neonatal wrinkled skin of hands and feet
Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.
This lesion is characterstic of discoid lupus erythematosus, but similar lesions may be observed in other diseases.
Spontaneous development of hematomas (hematoma) or bruises without significant trauma.
Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.
Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.
Angioectasia of the oral mucous membrane
Telangiectasia of the oral mucous membrane
The presence of two to five cafe-au-lait macules.
Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
An ichthyosiform abnormality of the skin with congenital onset.
Intermittent generalized erythematous papular rash
Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.
The presence of multiple leiomyomas of the skin.
Mottled pigmentation of the trunk and proximal extremities
Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.
Congenital partial albinism on face, trunk, or limbs
A type of blistering that affects the skin of the palms of the hands and the soles of the feet.
Increased groin pigmentation with raindrop depigmentation
Lichenification affecting primarily flexural areas of the skin.
The parts of the skin that touch when a joint flexes (bends) are called the flexural surfaces.
Progressive reticulate hyperpigmentation
Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.
Bitot spots can be a feature of vitamin A deficiency.
Reduced number or density of facial hair.
Increased amount of keratin (visible as white scales) surrounding hair follicles.
Subcutaneous nodules that are located in the vicinity of joints.
Axillary and groin hyperpigmentation and hypopigmentation
An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized, erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.
Bullous congenital ichthyosiform erythroderma
Epidermolytic hyperkeratosis can refer to the disease caused by mutations in the genes keratin 1 or keratin 10, but is here used to refer to the characteristic skin manifestations as a phenotypic feature.
Congenital bullous ichthyosiform erythroderma
An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.
The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Nonbullous congenital ichthyosiform erythroderma
Congenital nonbullous ichthyosiform erythroderma
Decreased sweating due to autonomic dysfunction
Depigmentation/hyperpigmentation of skin
Telangiectases (small dilated blood vessels) with a diffuse localization.
Telangiectases, random body distribution
Linear arrays of macular hyperkeratoses in flexural areas
Discrete 2 to 5-mm hyper- and hypopigmented macules
Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.
Hyperkeratosis, palmoplantar, focal friction-related
Focal friction-related palmoplantar hyperkeratosis
Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.
The presence of fewer than normal sweat glands.
Streaks of hyperkeratosis along each finger onto the palm
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.
Mottled pigmentation of photoexposed areas
An abnormal accumulation of fluid beneath the skin on the back of the hands.
Excessive wrinkled skin of palms and soles
Yellow subcutaneous tissue covered by thin, scaly skin
Loss of hair in the occipital region of the scalp with congenital onset.
Aplasia cutis congenita of midline scalp vertex
A severe degree of photosensitivity of the skin.
Presence of a cutaneous lipoma on the forehead.
Lack of skin pigmentation (coloring) of the anterior chest.
Absent pigmentation of the ventral chest
Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution.
Palmoplantar keratosis with erythema and scale
Abnormal fat tissue distribution below the skin
Abnormal subcutaneous fat tissue distribution
Congenital symmetrical palmoplantar keratosis
Confetti hypopigmentation pattern of lower leg skin
Hyperkeratosis affecting the sole of the foot.
Telangiectases in sun-exposed and nonexposed skin
The presence of six or more cafe-au-lait spots.
Seborrheic dermatitis that is not localized to any one particular region.
Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.
A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.
Mediosternal, longitudinal streak of hypopigmentation
Telangiectasia macularis eruptiva perstans
Skin fragility with non-scarring blistering
Increased pigmentation of the skin with a netlike (reticular) pattern.
A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.
In future versions of the HPO this term will be made obsolete and will be replaced by terms for Aplasia cutis congenita on trunk and a term for Aplasia cutis congenita on the limbs.
Aplasia cutis congenita on trunk or limbs
Aplasia cutis congenita over posterior parietal area
Absence or developmental hypoplasia of the eccrine sweat glands.
Aplasia/Hypoplastia of the eccrine sweat glands
The presence of multiple subcutaneous lipoma that cause pain.
Painful noncancerous fat tissue tumor under the skin
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
Bilateral single transverse palmar creases
Generalized reticulate brown pigmentation
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).
Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.
The salmon patch is the most common capillary malformation, occurring in up to 50% of all neonates. It is a pinkish macule that typically affects the back of the neck (stork bite) or the glabella (angel's kiss), although it can affect the eyelids, the nose, the upper lip, and the sacral area.
Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).
Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin.
Abnormal pigmentation in sun-exposed skin
Pigmentation anomalies of sun-exposed skin
Osteomyelitis, especially of the mandible
Underdevelopment of condylar process of mandible
Absence of the condylar head of mandible
Absence of the condylar neck of mandible
Absence of the condylar process of mandible
Failure of development of condylar head of mandible
Failure of development of condylar neck of mandible
Failure of development of the condylar process of mandible
Underdevelopment of condylar head of mandible
Underdevelopment of condylar neck of mandible
Agenesis of condylar process of mandible
Decreased size of condylar process of mandible
Hypoplasia of condylar process of mandible
Hypoplasia of subcondylar region of mandible
Hypotrophic condylar process of mandible
A developmental anomaly characterized by abnormal smallness of both eyes.
An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.
Nonarteritic anterior ischemic optic neuropathy is caused by infarction of the laminar or retrolaminar portion of the optic nerve head supplied by the short posterior ciliary arteries. Clinically NAION is characterized by sudden, usually painless, loss of vision in one or both eyes. Examination findings include decreased visual acuity, a visual field defect, decreased colour vision, a relative afferent pupillary defect, and optic disc swelling.
Nonarteritic anterior ischemic optic neuropathy
A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.
A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.
Night blindness, congenital stationary, complete
Congenital stationary night blindness is prinicipally the result of dysfunction of the rod photoreceptors.
Tractional retinal detachment at the periphery of the retina.
Peripheral tractional retinal detachment
Failure of development of lower eyelashes
Congenital abnormality of the extraocular muscles.
A type of cataract with punctate opacities of the lens.
Sharply demarcated, congenital hyperpigmentation of thr retinal pigment epithelium.
This feature is found in around 3-5% of the population and is of no functional significance.
Congenital hypertrophy of retinal pigment epithelium
Eversion of lateral third of lower eyelids
A congenital defect of development characterized by absence of the lacrimal gland.
obsolete Decreased retinal pigmentation with dispersion
Abnormality of chorioretinal pigmentation
Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.
Impaired pursuit initiation and maintenance
An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.
Congenital underdevelopment of the iris.
Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.
Narrowing of a tear duct (lacrimal duct).
It is preferable to describe the functional defect precisely.
Absence of the combined rod-and-code response on electroretinogram.
Absent cone and rod functions by electroretinogram
Absent rod-and cone-mediated responses on ERG
Undetectable light- and dark-adapted electroretinogram
obsolete Nonnuclear polymorphic congenital cataract
An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
obsolete Retinal pigment epithelial atrophy
Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.
Anterior segment developmental abnormality
In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures.
Abnormality of retinal pigment epithelium
Abnormality of the retinal pigment epithelium
Sudden-onset episode of abnormal, involuntary eye movements.
Absence of the crystalline lens of the eye as a result of a developmental defect.
A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).
WIth intraocular melanoma, the melanoma originates from melanocytic cells in the uveal layer, comprising the iris, ciliary body, and choroid.
A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.
Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.
Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
Lack of transparency of the corneal epithelium.
Abnormal (non-physiological) constriction of the pupil of congenital onset.
An abnormal reduction in the amount of pigmentation of the iris.
Abnormal development of the choroid and retina.
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Underdevelopment of the fovea centralis.
A dull foveal reflex is an unusual reflex of the foveal region on fundoscopy that may indicate hypoplasia of the fovea.
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
obsolete Slitlike anterior chamber angles in children
Reduced transparency of the stroma of cornea.
A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.
Dilatation of small blood vessels of the retina.
Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.
Deep anterior chamber can be seen in disorders such as congenital microphakia and buphthalmos.
Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.
The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).
Central retinal vessel vascular tortuosity
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.
Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.
Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.
A type of retinal neovascularization that affects the posterior pole of the retina.
Neovascularization of peripheral and posterior retina
A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.
obsolete Peripheral retinal cone degeneration
obsolete Butterfly retinal pigment epithelial dystrophy
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Posterior subcapsular opacities of the lens
Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.
Patchy atrophy of the retinal pigment epithelium
Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.
Macular retinal pigment epithelial mottling
A cataract that affects the anterior part of the cortex of the lens.
The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.
Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.
Increased front to back length of eyeball
The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.
Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.
Rod monochromacy is the condition of having only rods in the retina. A rod monochromat is truly unable to see any color and can see only shades of grey.
obsolete Progressive bifocal chorioretinal atrophy
Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.
The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.
A form of uveitis that is not associated with the formation of granulomas.
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Focal hypopigmentation of the retinal pigment epithelium
Abnormal distribution of retinal arterioles and venules
A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.
The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.
Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.
Presenile cataract is rare. Some cases have a hereditary cause; others result from trauma or chromosomal, endocrine, metabolic, or systemic disorders. Many cases are idiopathic. The term 'presenile' is used differently in the literature. The HPO defines it to mean a cataract that is diagnosed after the age of 20 years but before old age.
Congenital absence or closure of the opening of the lacrimal punctum.
Paralysis of both the extrinsic and intrinsic ocular muscles.
Total internal and external ophthalmoplegia
obsolete Cataracts develop in second or third decade
obsolete Diffuse retinal cone degeneration
Inability to see well at night or in poor light with onset in adulthood.
Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.
Nonprogressive restrictive external ophthalmoplegia
Pigmentation of the outer white part of the eyeball
A kind of cataract that progresses with age.
Increased length of the upper eyelashes.
Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.
Amyloid deposition in the vitreous humor
Narrowing of blood vessels in back of eye
obsolete Temporal displacement of maculae
obsolete Pericentral pigmentary retinopathy
Punctate opacification (reduced transparency) of the corneal stroma.
Punched out lesions in the pigmented layer of the retina.
A chorioretinal lacuna can have the appearance of a pseudodisk in the retina.
Horizontal nystagmus dating from or present at birth.
Deposition of calcium salts in the retina.
Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.
Restrictive partial external ophthalmoplegia
obsolete Age-related macular degeneration
The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.
Choroidal hemangiomas can cause hyperopia or other visual symptoms such as blurred or distorted vision. Some choroidal hemangiomas are asymptomatic.
A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.
Almond-shaped opening between the eyelids
The almond configuration tends to dissipate with time, as the surrounding tissues (e.g., eyelid, nasal bridge) grow.
Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.
An abnormally slow velocity of horizontal saccadic eye movements.
Congenital absence of the extraocular muscles.
A type of posterior subcapsular cataract characterized by an iridescent color.
Cataracts, posterior, subcapsular, iridescent
Iridescent posterior subcapsular cataract
Underdevelopment of the lacrimal puncta.
obsolete Progressive retinal degeneration
Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).
Failure of attachment of the retina during development.
Bleeding within the vitreous compartment of the eye.
The most common causes include proliferative diabetic retinopathy, vitreous detachment with or without retinal breaks, and trauma. Less common causes include vascular occlusive disease, retinal arterial macroaneurysm, hemoglobinopathies, age-related macular degeneration, intraocular tumors, and others.
Chorioretinal atrophy along the retinal veins.
Intraocular pressure that is 2 standard deviations above the population mean.
obsolete Nonprogressive congenital retinal dystrophy
Congenital drooping of both upper eyelids
A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.
This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.
Polymorphous posterior corneal dystrophy
obsolete Small anterior lens surface opacities
A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.
obsolete Congenital chorioretinal dystrophy
Decreased visual acuity, slowly progressive
A congenital defect resulting in absence of the lacrimal duct.
Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.
Separation of the inner layers of the retina (neural retina) from the pigment epithelium occuring near the outer limit (periphery) of the retina.
Congenital abnormal dilation of the pupil on both sides.
Regional increase in the width (height) of the lateral eyebrow.
Juvenile posterior subcapsular lenticular opacities
Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.
Restrictive external ophthalmoplegia, bilateral
A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.
A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.
Paralysis of the iris and ciliary apparatus.
Paralysis of the internal ocular muscles, the iris and ciliary apparatus.
A form of stapes ankylosis with congenital onset.
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.
Unequal size of opening between the eyelids
A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.
A type of posterior cortical cataract characterized by dense lenticular opacities.
Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).
Scarring or clouding of the cornea of the eye
Optic atrophy from cranial nerve compression
obsolete Rarefaction of retinal pigmentation
A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.
Persistent hyperplasia of primary vitreous
Persistent hyperplastic primary vitreous
Persistent hypertrophic primary vitreous
Persistent posterior fetal fibrovascular sheath of the lens
A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.
The presence of developmental dysplasia of the retina.
This feature is a congenital developmental anomaly of the retina characterized by abnormal growth and differentiation. The retina contains numerous tubular structures and rosettes. Retinal dysplasia (synonym: retinal dysgenesis) is often accompanied by retinal detachment and micropthalmos, but the latter features should be coded separately.
Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.
Horizontal nystagmus made apparent by looking to the right or to the left.
obsolete Concentric narrowing of visual field
obsolete Central tapetoretinal dystrophy
A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3].
Electroretinogram: reduced b-wave amplitude
Reduced amplitude of dark-adapted bright flash electroretinogram b-wave
Flashes will elicit an a-wave with an initial negative deflection followed by a b-wave with positive deflection. This feature refers to a reduction in the amplitude primarily of the b-wave.
Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.
Decreased amount of pigmentation in the macula lutea.
Retinal exudate within the retinal tissue itself.
Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.
Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
Increased amount of pigmentation in the fovea centralis.
Abnormality of macular or foveal pigmentation.
obsolete Progressive central visual loss
Reduced transparency of the peripheral region of the cornea.
Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.
Central fundal arteriolar microaneurysms
obsolete Depigmented lesions of the retinal pigment epithelium
Partial dislocation of the lens in a superior direction.
Inherited progressive cone degeneration.
A form of macular degeneration characterized by the presence of multiple cysts in the macula.
A type of sutural cataract in which the opacity follows the posterior Y suture.
Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).
Absence of the anterior chamber of the eye owing to a developmental defect.
Absence or underdevelopment of the lacrimal gland.
Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.
Usually after the first branch, the retinal arteries contain no elastic fibers and the term retinal arteriole is more appropriate. The main changes seen in diseases such as hypertension affect mainly the retinal arterioles rather than the retinal artery.
A structural abnormality of retinal vasculature.
Abnormality of the vasculature of the eye
Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer.
An abnormality of an extraocular muscle.
There are six extraocular muscles that control the movements of the eye.
An anomaly of the space between the medial and lateral canthi of the two open eyelids.
Abnormality of the opening between the eyelids
obsolete Abnormality of the retinal pigment epithelium
A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Absence or underdevelopment of the iris.
Any abnormality of the blood vessels of the conjunctiva.
Abnormal morphology of the conjunctiva vasculature
Abnormal vasculature of the conjunctiva morphology
Abnormality of the vasculature of the conjunctiva
Abnormal morphology of the conjunctival vasculature
Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.
Congenital absence or underdevelopment of the fovea centralis.
Absence or underdevelopment of the anterior segment of the eye.
Aplasia/Hypoplasia affecting the anterior segment of the eye
Absence or underdevelopment of the lens.
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder.
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm.
A tumor (abnormal growth of tissue) of the skin.
This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter.
Increased blood pressure during a pregnancy.
Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.
An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age.
The development of Pes cavus that is progressive with age.
Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
A developmental abnormality characterized by the absence of the fifth metatarsal bone.
Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.
An outward deviation of the foot at the talocalcaneal or subtalar joint.
Valgus refers to the twisting outward of a bone or joint is twisted outward from the center of the body, whereas varus is a twisting toward the center of the body.
2nd-5th toe middle phalangeal hypoplasia
The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.
An anomaly of the fifth metatarsal bone.
Abnormality of the 5th long bone of foot
Abnormality of the fifth metatarsal bone
Underdevelopment (hypoplasia) of the fourth toe.
An overall widening of the spaces between the digits.
This description is based on the width of the gap between the toes. It is usually used when the width of the toes remains normal rather than to describe a situation where the toes are thin or narrow. This term should not be used for the situation where the finding is limited to a gap between T1,2 (see Sandal gap).
Expanded metatarsals with widened medullary cavities
Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.
Plantar crease between first and second toes
Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.
Metatarsal diaphyseal endosteal sclerosis
Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).
Limitation of the ability to bend the toes.
Synostosis of the calcaneus with the navicular bone.
A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.
A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.
Delayed coalescence of bipartite calcanei
Delayed coalescence of calcaneal ossification centers
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.
Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.
Delayed maturation and calcification of the calcaneus.
Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
Impaired epinephrine-induced platelet aggregation
Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.
Elevated serum transaminases during infections
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
Increased international normalized ratio
increased international normalised ratio
The prothrombin time (PT) and the activated partial thromboplastin time (APTT) are the most requested tests to investigate patients with congenital or acquired coagulopathies and drug monitoring. They are defined as the time (seconds) needed to clot platelet-poor plasma upon addition of coagulation triggers, such as tissue factor in complex with phospholipids and calcium chloride (in the PT), or negatively charged phospholipids-activators and calcium chloride (in the APTT). They can hence be considered as global coagulation tests sensitive to deficiencies of many coagulation factors. In brief, they are both sensitive to factor X, V, II and fibrinogen, whereas the PT is only sensitive to factor VII deficiency and the APTT is sensitive to pre-kallikrein, high molecular weight kininogen (HMWK), factor XII, XI, IX and VIII deficiencies. Normal plasma in the PT clots approximately within 10-12 s upon triggering coagulation, and the normal reference range is (usually) narrow. PT results have been reported as clotting time, percentage activity, PT-ratio (patient-to-normal clotting time) and as international normalized ratio (INR). The INR scale has been devised to harmonize results stemming from different thromboplastins from patients on treatment with vitamin K antagonists. Some recommend abandoning the approach of using percentage activity to assess PR.
Episodes of muscle weakness associated with reduced levels of potassium in the blood.
Excessive amounts of mucopolysaccharide in the urine.
This finding is suggestive of the diagnosis of a mucopolysaccharidosis.
Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.
An increase in the level of 3-hydroxydicarboxylic acid in the urine.
A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels .
An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.
Abnormally reduced concentration of cortisol in the blood.
Reduced proportion of helper T cells relative to the total number of T cells.
Decreased proportion circulating T-helper cells
Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.
Beta-galactosidase deficiency in fibroblasts and white blood cells
Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.
Neonatal unconjugated hyperbilirubinemia
An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.
Decreased Arden ratio of electrooculogram
Moderately increased serum creatine kinase
'has part' some ('increased amount' and ('inheres in' some blood) and (towards some IMR_0002602) and ('has modifier' some 'mild intensity') and ('has modifier' some abnormal))
An absence of low-density lipoprotein cholesterol in the blood.
The onset of puberty before the age of 9 years in boys.
The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.
This feature is common in Beckwith Wiedemann syndrome.
No secondary sexual characteristics are present at puberty.
No secondary sexual characteristics at puberty
Absence of secondary sex characteristics
The congenital absence of the thyroid gland.
The presence of multiple pancreatic islet cell adenomas.
Deficiency of parathyroid hormone with congenital onset.
A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.
A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Precocious puberty with Sertoli cell tumor
Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.
Insulin-dependent but ketosis-resistant diabetes
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Deficiency of both glucocorticoids and mineralocorticoids.
An absolute increase in the mass of the parenchymal cells of the parathyroid gland leading to an enlargement of the parathyroid glands.
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
The causes of primary ovarian insuficiency (POI) include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections and surgery, but many are unidentified (idiopathic). The age of 40 is set by convention but is supported by clinical observations. From a statistical point of view, the age limit of 40 is approximately two standard deviations (SD) below the average age at natural menopause (50 plus/minus 4 years).
A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).
A reduction below normal concentration of estradiol in the circulation.
Abnormal development of the adrenal gland.
Insufficient amount of androgenic activity.
A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.
The presence of lymphangiectasis of the thyroid gland.
A stretching and widening of the lymphatic vessels of the thyroid gland.
obsolete Decreased testosterone in males
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated plasma follicle stimulating hormone
Increased circulating follicle stimulating hormone level
Elevated circulating follicle stimulating hormone level
An reduced concentration of progesterone in the blood.
Progesterone is a steroid hormone secreted by the corpus luteum after ovulation during the second half of the menstrual cycle.
A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.
The simultaneous occurrence a low thyroid hormone level and a normal or low serum level of thyroid stimulating hormone (TSH) in a patient with hypothyroidism establishes the diagnosis of secondary hypothyroidism. The administration of thyrotropin releasing hormone (TRH), which is normally synthesized and released by the hypothalamus, enables the physician to distinguish between pituitary and hypothalamic causes of hypothyroidism. TRH will normally cause the release of TSH from the pituitary gland. When the hypothalamus does not synthesize or release TRH, the administration of exogenous TRH will result in prompt rise of serum TSH. To date, the cases reported of pituitary hypothyroidism. Hypothalamic hypothyroidism, on the other hand, may either be idiopathic or result from demonstrable hypothalamic disease.
Developmental hypoplasia of the adrenal medulla.
A state of renal tubular unresponsiveness or resistance to the action of aldosterone.
Pseudohypoaldosteronism is characterized by hyperkalemia, metabolic acidosis, and normal glomerular filtration rate. This term refers to the phenotypic finding of pseudohypoaldosteronism rather than the disease of idiopathic pseudohypoaldosteronism.
A type of adrenal hypoplasia with congenital onset.
A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.
Low thyroid gland function due to abnormal pituitary gland
An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease.
Any functional abnormality of the thyroid gland and the systems that control its rate of production of thyroid hormone (hypothalamic-pituitary-thyroid axis) and the peripheral reactivity to thyroid hormone.
An enlargement of the thyroid gland with congenital onset.
Adrenocortical adenomas are benign tumors of the adrenal cortex.
A type of adrenal hyperplasia with congenital onset.
Adrenal insufficiency secondary to a defect in the ACTH receptor.
Adrenocorticotropic hormone-resistant adrenal insufficiency
The presence of an adenoma of the pancreas with origin in a pancreatic B cell.
Thyroid defect in oxidation and organification of iodide
The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.
Increased red cell hemolysis by shear stress
Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.
Abnormal cone-mediated electroretinogram
Abnormal light-adapted electroretinogram
Atrophy (wasting) of the cerebellar cortex.
Cerebellar cortical atrophy may be associated with vacuolated or binucleated Purkinje cells.
An increased concentration of ammonia in the blood with sudden onset.
An increased amount of unconjugated (indirect) bilurubin in the blood.
An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.
A partial reduction in level of the complement component Factor H in circulation.
A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).
Corticotropin-secreting pituitary adenoma
An increase in the level of long-chain dicarboxylic acid in the urine.
A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).
An increased concentration of dermatan sulfate in the urine.
Dermatan sulfate is a a glycosaminoglycan (mucopolysaccharide) found in skin, blood vessels, heart valves, tendons, and lungs.
Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.
Presence of myoglobin in the urine following exercise.
Exercise-induced myoglobinuria in adults
Abnormal iron deposition in mitochondria
An increase in the level of medium chain dicarboxylic acid in the urine.
Spinal cord posterior columns myelin loss
A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex II
A decreased concentration of free (unbound) carnitine in the blood.
An abnormality of the mitochondria in muscle tissue.
This finding is typically demonstrated by muscle biopsy.
An increased alkaline phosphatase activity measured within leukocytes.
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Impaired collagen-induced platelet aggregation
Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).
Any structural anomaly of the mitochondria.
This feature may be assessed by means of electron microscopy.
An abnormality of the combined rod-and-code response on electroretinogram.
The dark-adapted 3.0 ERG can be used to elicit a combined rod-cone response.
Abnormal light- and dark-adapted electroretinogram
An abnormally decreased concentration of vitamin B6 in the blood circulation.
The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.
The qualifier microscopic is used to indicate that the nephrocalcinosis cannot be observed on visual or radiologic examination without further magnification (as can macroscopic nephrocalcinosis).
Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
Decreased von willebrand factor activity
Von Willebrand factor (VWF) is a key hemostatic protein, but documenting its function through laboratory tests is not always straightforward. VWF serves as a carrier protein for factor VIII (FVIII), and also facilitates platelet adhesion through its interaction with platelet GPIb on the platelet surface and through its binding to the subendothelial matrix. This interaction is driven in vivo by shear stress, which induces a conformational change in VWF that allows it to bind platelet GPIb. In vitro, however, this interaction is induced by the antibiotic ristocetin, which enables VWF and platelet GPIb to interact in the absence of shear forces. Laboratory testing of VWF utilizes ristocetin in the VWF ristocetin cofactor activity assay (VWF:RCo), which is a measure of VWF binding to platelets, or by ristocetin-induced platelet aggregation (RIPA).
Elevated creatine phosphokinase after exercise
Elevated phospho-creatine kinase after exercise
Increased creatine kinase after exercise
Increased creatine phosphokinase after exercise
Increased phospho-creatine kinase after exercise
An increased concentration of an amino acid in the urine, due to a decreased kidney functionality .
Renal aminoaciduria is characterized by the abnormally elevated levels of amino acids in the urine, and is usually related to genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. This term does not refer directly to the group of corresponding disease entities but rather to the finding of elevated levels of amino acids in the urine which is inferred to be related to a renal defect rather than to a primary defect of aminoacid metabolism on the basis of other findings.
A partial reduction in level of the complement component Factor D in circulation.
Partial functional complement factor D deficiency
A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.
An increased concentration of a branched chain amino acid in the blood.
Elevated plasma branched chain amino acids
Underdevelopment of the dilatator pupillae.
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex IV
A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.
An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.
The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.
Reduced ability to transform factor X into its activated form factor Xa.
Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.
An increased concentration of proline in the blood.
A neonatal decreased concentration of proteins in the blood.
Absence or underdevelopment of the big toe.
Absence or underdevelopment of the tarsal bones.
An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.
Contractures involving the joints of the feet
Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).
An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.
Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.
Abnormal ossification involving metatarsal bones
Abnormal maturation of long bone of foot
Nails whose growth is slower than normal.
Aplasia or developmental hypoplasia of the nail.
Recurrent loss, or shedding, of the nails of the fingers and toes.
Recurrent loss of toenails and fingernails
Recurrent shedding of toenails and fingernails
The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.
A thickening of the stratum corneum in the region beneath the nails.
Chronic infection of the nails by Candida species.
A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.
Underdeveloped fingernail of little finger
Underdeveloped fingernail of pinkie finger
Underdeveloped fingernail of pinky finger
A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.
Detachment of the distal fingernails from the nail bed.
Longitudinal, linear prominences in the fingernail plate.
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Onychodystrophy is a widely used, yet rarely defined term. Onychodystrophy can be caused by congenital nail diseases, systemic disorders, fungal and nonfungal infections, various noninfectious inflammatory dermatologic diseases of the nail unit and tumors. Onychodystrophy can also occur secondarily to systemic drug use.
The presence of degenerative changes of intervertebral disk.
The presence of punctiform calcification of the bone of the vertebral bodies.
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
The presence of developmental dysplasia of the vertebral column.
Cuboid-shaped thoracolumbar vertebral bodies
Schisis (cleft or cleavage) of vertebral bodies.
Cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.
Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.
Anterior tongue-like protrusion of lumbar vertebral bodies
An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).
Absent in utero ossification of vertebral bodies
A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.
A vertebral arch is the posterior part of a vertebra and forms the canal through which the spinal cord passes. A vertebral arch consists of (i) a pair of vertebral pedicles, which are short thick processes that extend from the vertebral body to connect the body to the vertebral arch; (ii) a pari of vertebral laminae (broad plates that extending dorsally and medially from the pedicles fusing with one another to complete the roof of the vertebral arch); (iii) the spinous process (a process that is directed backward and downward from the junction of the laminae and to which muscles and ligaments attach); (iv) two superior articular processes and two inferior articular processes that articulate between two adjacent vertebrae); and (v) two transverse processes that extend at either side from the point where the lamina joins the pedicle, between the superior and inferior articular processes and allow the attachment of muscles and ligaments.
Absence of one half of the vertebral body in the lumbar spine.
Any abnormality of the atlas and the axis.
The atlas is the first cervical vertebral body and the axis is the second vertebral body.
The presence of one or more herniated nucleus pulposus of intervertebral disk.
Excessive growth of the bones of the vertebral bodies.
An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).
An abnormal narrowing of the cervical spinal canal.
Progressive cervical vertebral spine fusion
A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
Narrow vertebral interpedicular distance
A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.
Absence of some of the sacral and coccygeal bones
A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.
Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.
Caudal narrowing of interpedicular distances
A progressive form of scoliosis with congenital onset.
Agenesis of one or more vertebrae of the cervical vertebral column.
Absent spinous processes of lower thoracic and lumbar vertebrae
A developmental defect characterized by agenesis of one or more vertebral bodies.
Absence of one half of the vertebral body in the thoracic spine.
An abnormality related to a defect of vertebral separation of sacral vertebrae during development.
Dysplasia of the cervical vertebral column.
A reduction of the distance between the lower thoracic vertebral pedicles.
Narrowness of interpediculate distances in lower thoracic regions
Lower thoracic interpediculate narrowness
An abnormal reduction of the anterioposterior diameter of the vertebral body.
Narrow anterio-posterior vertebral body diameter
Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.
The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.
Cervical vertebral bodies with decreased anteroposterior diameter
A reduction of the distance between thoracolumbar vertebral pedicles.
Narrow thoracolumbar interpediculate distance
Thoracolumbar interpediculate narrowness
Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.
Decreasing lumbar vertebrae interpediculate distance
Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).
Spondylolysis and spondylolisthesis of l5
Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Partial displacement of the lens in the inferior direction.
A severe form of hypermetropia with over +5.00 diopters.
Cleft lip or palate affecting the midline region of the palate.
The presence of a moderate form of sensorineural hearing impairment.
Moderate sensorineural hearing impairment
Reduced transparency of the central posterior portion of the corneal stroma.
A bilateral type of conductive hearing impairment.
Abnormality of the vertebral spinous processes
Aplasia or developmental hypoplasia of the sacral bone.
Aplasia/Hypoplasia involving the vertebral column
Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.
They are usually linear to a narrow oval in shape and may be single or multiple.
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Bilateral congenital sensorineural deafness
Congenital sensorineural hearing impairment
Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.
Absence of acoustic middle ear muscle reflexes
Note that the acoustic reflex is also referred to as stapedius reflex, attenuation reflex, or auditory reflex.
Cleft at the superior portion of the ear
This term is used for Auriculocondylar syndrome (MIM:602483). Not clear if there is a clean delineation against cleft helix.
Cleft at the superior portion of the pinna
A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).
The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established.
A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two.
Complete lack of functioning of the vestibular apparatus.
Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.
Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
A malformation of the auricle of the ear.
A form of sensorineural hearing impairment that affects primarily the lower frequencies.
Low-frequency sensorineural hearing loss
Low-frequency sensorineural hearing impairment
Underdevelopment of the helix that either affects the entire helix, or is localized.
Helix folding is highly variable, and the range is illustrated in Figures 29 and 30. To use this term, the affected area must be too long to be considered a Cleft helix. Underdevelopment of part of the helix can lead to the impression that the scaphal area is enlarged.
A condition in which the superior portion of the helix is folded over to a lesser degree than normal.
Developmental hypoplasia of the cochlea.
The presence of a mild form of sensorineural hearing impairment.
A neurosensory hearing loss with a deficit of 21-40 dB.
A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.
Slit-like opening of the exterior auditory meatus
Underdevelopment of the helix, i.e., of the outer rim of the pinna.
A type of conductive deafness with congenital onset.
Congenital conductive hearing impairment
Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
A form of sensorineural hearing impairment with onset after the acquisition of speech.
Postlingual sensorineural hearing impairment
A mild form of conductive hearing impairment.
Conductive hearing impairment with 21-40 dB deficit.
Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.
A progressive type of conductive deafness.
Progressive conductive hearing impairment
An abnormality of the morphology or structure of the middle ear.
Morphological abnormality of the middle ear
A form of sensorineural hearing impairment with infantile onset.
Infantile sensorineural hearing impairment
The presence of sensorineural deafness with late onset.
Adult onset sensorineural hearing impairment
A bilateral form of sensorineural hearing impairment.
Bilateral sensorineural hearing impairment
A severe form of sensorineural hearing impairment.
An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.
Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. Pulsatile tinnitus may be associated with vascular abnormalities such as arterioevenous shunts or glomus tumors or the jugular vein, arterial bruits related to a high-riding carotid artery (close to the auditory areas) or carotid stenosis, or venous abnormalities such as a dehiscent jugular bulb or to hypertension. Finally, in some patients, mechanical abnormalities such a spatulous eustachian tubes, palatomyoclonus (small spasms of muscles in the soft palate area), or idiopathic stapedial muscle spasm may represent the underlying cause of pulsatile tinnitus.
If possible, a more specific term describing the precise type of ureteral dysgenesis should be chosen.
Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).
Gonadal agenesis refers to the lack of development of gonads during fetal development; it may not be possible clinically to determine if gonal tissue was present at any point of development. For this reason, we regard agonadism and gonadal agenesis as synonymous.
Abnormal enlargement of the urinary bladder.
Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.
Pubertal developmental failure in females
Uric acid urolithiasis independent of gout
Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.
A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.
Aplasia or developmental hypoplasia of the fallopian tube.
Aplasia/Hypoplasia of the fallopian tube
The presence of many cysts in the medulla of the kidney.
This feature is the cardinal sign of medullary cystic disease, also known as medullary sponge disease.
A developmental defect characterized by absence or poor development of proximal renal tubules.
Renotubular dysgenesis is generally accompanied by early onset and persistent oligohydramnios that leads to the Potter sequence.
Impaired histidine renal tubular absorption
Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.
Incomplete maturation or aberrant formation of the male gametes.
The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.
A developmental disturbance with extreme ureteral dilatation.
The cause of congenital megaloureter is thought to be aperistalsis of the distal ureter, leading to dilatation. The defect in peristalsis may be due to faulty development of muscle layers of ureter, that is, there is a functional, not a mechanical cause of obstruction.
Nephrotic syndrome with onset within the first three months of life.
Absence or underdevelopment of the kidney.
Acute death of renal tubular cells that usually results from prolonged renal ischemia, nephrotoxins, or sepsis. The clinical course of acute tubular necrosis may be divided into initiation, maintenance, and recovery phases.
Increase in size of the folds of skin between the outer labia.
Absence or developmental hypoplasia of the uterus.
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.
A disordered proliferation of mature tissues that are native to the kidneys.
Developmental hypoplasia of the fallopian tube.
Deposition of calcium salts in gonadal tissue.
Both the sac and rugae are absent. This finding may be accompanied by an (Apparently) absent testis and Cryptorchidism, which should be coded separately.
The presence of non-malignant hyperplasia of the prostate.
The presence of a fistula between the vagina and the urethra.
A unilateral form of atrophy of the kidney.
A unilateral form of developmental dysplasia of the kidney.
The presence of a diverticulum (sac or pouch) in the wall of the urethra.
Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.
Very bad term - try to get rid of it later.
Gonadal dysgenesis with female appearance, male
The presence of female external genitalia in a person with a male karyotype.
Female external genitalia in individual with 46,XY karyotype
Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.
Three primary mechanisms of hypophosphatemia exist: increased renal excretion, decreased intestinal absorption, and movement of phosphate from the extracellular to intracellular compartments. The initial step in diagnosis involves determining whether hypophosphatemia is renal or nonrenal.
Reduced volume of the testicle (the male gonad).
The presence of a partially duplicated kidney.
The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.
A mild form of hypospadias in which the urethra opens just under the corona glandis.
An abnormality of the aryepiglottic fold.
The aryepiglottic fold is a fold of mucous membrane extending on each side between the lateral border of the epiglottis and the summit of the arytenoid cartilage.
Ossification affecting the set of cartilages of larynx.
This term describes abnormal ossification affecting one or more of the cartilages of the larnyx (cricoid cartilage, thyroid cartilage, epiglottic cartilage, arytenoid cartilage, corniculate cartilage, cuneiform cartilage, triticeal cartilage, and sesamoid cartilage).
Congenital absence of the lumen of the larynx.
Laryngeal atresia results from failure of recanalization of the laryngotracheal tube during the third month of gestation. Laryngeal atresia manifests as acute airway obstruction in the newborn immediately following clamping of the umbilical cord and is fatal without immediate airway management with a tracheotomy. Congenital laryngeal atresia is a rare anomaly that is mostly incompatible with life. Most authors claim that this malformation is related to an arrest of the sixth brachial arch at different gestational stages during normal embryologic development. Complete laryngeal atresia results in a desperate emergency during the first few moments of life, and surgical intervention must occur within 2 to 5 minutes of birth to enable respiration. The most dramatic physical finding is that the child is aphonic, with absence of any cry or gasp at birth.
Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus.
Embryologically, the trachea and esophagus share a common lumen until they are separated by the development of the tracheoesophageal septum. Failure of this fusion and incomplete development of the tracheoesophageal septum may lead to congenital abnormalities such as isolatedlaryngeal cleft, tracheoesophageal fistula, and esophageal atresia, depending on the severity of the abnormality. Patients with laryngeal cleft may present with feeding difficulty, chronic cough, stridor, pneumonia or respiratory distress, depending on the size of the cleft.
A malformation of the laryngeal cartilage.
Vocal impairment, severe, due to laryngeal cartilage abnormalities
Calcification (abnormal deposits of calcium) in the laryngeal tissues.
Bowing (abnormal curvature) of the vocal folds.
A loss of the ability to move the vocal fold on one side.
Self-mutilation of tongue and lips due to involuntary movements
The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.
The presence of aplasia or developmental hypoplasia of the ear.
The presence of aplasia or developmental hypoplasia of all or part of the external ear.
Aplasia or developmental hypoplasia of all or part of the middle ear.
Hypoplastic/aplastic middle ear structures
Aplasia or developmental hypoplasia of the inner ear.
Any structural abnormality of the renal artery.
The vocal cords, also known as the vocal folds, represent a subdivision of the larynx, and consist of twin infoldings of mucous membrane stretched horizontally across the larynx.
Increased width of the proximal part of the shaft (metaphysis) of the femur.
Abnormally wide morphology of the proximal epiphysis of the femur.
Delayed maturation and calcification of the rami (branches) of the pubic bone.
Irregularities of the iliac crest that produce the appearance of a lace border around it.
Delayed maturation and calcification of the pubic bone.
A cone-shaped deformity of the proximal epiphysis of the femur.
Cone-shaped end part of innermost thighbone
Developmental acceleration of ossification of the proximal epiphysis of the femur.
Early ossification of capital femoral epiphyses
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.
A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.
Underdevelopment of the lesser trochanter.
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the lateral dimension of the notch.
The presence of developmental dysplasia of the acetabular part of hip bone.
Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Lack of ossification of the proximal epiphysis of the femur.
Absent ossification of femoral capital epiphyses
The ossification center of the capital femoral epiphysis appears at the end of the first year after birth.
Absent ossification of capital femoral epiphysis
Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.
Developmental delay of ossification of the proximal epiphysis of the femur.
Delayed ossification of the proximal femoral epiphysis
Delayed ossification proximal femoral epiphyses
The proximal femoral epiphyseal ossification center normally appears at about age 6 months.
Delayed proximal femoral epiphyseal ossification
Delayed ossification of the femoral head.
Delayed maturation of the head of the thigh bone
There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.
Additionally, the ossification center of the capital femoral epiphysis appears at the end of the first year after birth. This is not what this term refers to.
Speckled calcifications in end part of innermost long bone of upper arm
Stippled calcification proximal humeral epiphyses
A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).
Short stature, disproportionate mesomelic
Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.
Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.
A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.
Short-trunk dwarfism identifiable at birth
Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.
Faltering weight secondary to recurrent infections
Weight faltering secondary to recurrent infections
Failure to thrive secondary to recurrent infections
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Short stature, disproportionate short limb
Short stature, disproportionate short-limb
A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionatley affected. Note that brachymelia is a general term refering to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs).
Disproportionate short-limb short stature
Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Disproportionately short upper portion of limb
Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Short limb dwarfism recognizable at birth
Short-limb dwarfism identifiable at birth
Short-limb dwarfism identifiable neonatally
Short-limbed dwarfism identifiable at birth
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.
Childhood-onset short-trunk short stature
Disproportionate short-trunk short stature, identifiable in childhood
Short-trunk dwarfism identifiable during childhood
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Swollen lymph nodes affecting all regions of the body
Distal lower limb muscle atrophy is commonly due to peripheral neuropathy.
Loss of ability to walk in early childhood
Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly.
Muscular atrophy affecting proximally located muscles of the arms.
Underdevelopment of muscles of the shoulder.
Underdevelopment of the pectoralis major.
The pectoralis major is a thick, fan-shaped muscle of the anterior chest.
Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.
Progressive muscular atrophy affecting muscles in the distal portions of the extremities.
Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.
Reduced strength of the distal musculature of the arms.
Underdevelopment of the muscuklature of the calf.
Muscle weakness affecting the tibialis anterior muscle.
This is a bundled term which should be made obsolete.
Muscular atrophy that does not display a progression in severity with time.
A type of muscle stiffness that occurs following physical exertion.
Muscle hypertrophy primarily affecting the legs.
Muscle hypertrophy of the lower extremities
Decreased activity of the mitochondrial respiratory chain.
Decreased activities of mitochondrial-encoded respiratory chain complexes
Decreased activity of mitochondrial respiratory complexes
Decreased activity of mitochondrial respiratory chain
Muscle hypertrophy affecting the calf muscles.
Muscular hypertrophy of the calf muscles
Underdevelopment of muscles of the neck.
An abnormal increase in the amount of intramuscular fat tissue.
Congenital lack, i.e., aplasia of the diaphragm.
An extremely large diaphragmatic defect, or apparent absence of the hemidiaphragm, is called agenesis of the diaphragm; this defect probably represents the severe end of the Bochdalek hernia spectrum rather than a distinct entity.
Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).
Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.
An abnormal increase in the amount of intraabdominal fat tissue.
A lack of strength of the proximal muscles of the legs.
A lack of strength of the proximal muscles of the arms.
Underdevelopment of the pectoral muscle.
Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.
Loss of subcutaneous truncal adipose tissue
Loss of truncal subcutaneous adipose tissue
The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.
Increased subcutaneous truncal adipose tissue
Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.
Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.
Loss of fat tissue below the skin in gluts
Loss of gluteal subcutaneous adipose tissue
Loss of subcutaneous adipose tissue from face, progressive
Progressive loss of facial subcutaneous adipose tissue
Progressive loss of subcutaneous adipose tissue from face
Progressive loss of facial adipose tissue
An abnormally increased tendency towards muscle fatigue induced by physical exercise.
Decreased strength of the abdominal musculature.
This may be associated with protuberance of the abdomen.
The presence of an abnormally increased amount of connective tissue.
Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Dorsiflexion of the foot extends the foot superiorly, as if taking the foot off the gas pedal.
Generalized weakness of the muscles of the arms and legs.
Severe hypertrophy (increase in size) of muscle cells.
Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).
The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals.
Muscular atrophy involving the quadriceps muscle.
An increased amount of glycogen in muscle tissue.
Reduced strength of the distal musculature of the legs.
This finding can be due to peripheral neuropathy.
Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.
Generalized muscle atrophy, proximal and distal
Loss of fat tissue below the skin from upper limbs
Loss of subcutaneous adipose tissue from upper limbs
An abnormal accumulation of lipids in skeletal muscle.
Increased neutral lipid content may be observed on muscle biopsies specimen with the specific staining of Sudan black or oil red O techniques by optic microscopy.
Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.
Need to add new UBERON term for scapula muscle
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.
Progressively reduced strength of the distal musculature.
Generalized degenerative changes of the fat tissue.
Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.
Chronic muscle inflammation accompanied by muscle weakness.
Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.
Lack of strength of the proximal muscles that becomes progressively more severe.
Weakness of long finger extensor muscles
Midline cleft of maxillary alveolar process
Midline notch of maxillary alveolar process
Midline notch of maxillary alveolar ridge
This finding may or may not be accompanied by increased height of the alveolar ridge. This is not to be confused with Prominent palatal ridges or gingival overgrowth. This distinction of gingival from alveolar ridge overgrowth may be difficult, especially in milder degrees of the finding.
Impairment in the physical production of speech sounds.
Speech articulation difficulties can result from abnormalities of the vocal tract (the larynx and the pharyngeal, oral, and nasal cavities).
Progressive hypertrophy of alveolar process of jaw
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Cleft palate of the midline of the palate.
A cleft of the lip with overlying mucous membrane.
Submucous cleft lip may lead to increased nasal resonance.
A type of malocclusion in which there is a gap between the anterior teeth (incisors).
Absence of overlap of anterior upper and lower teeth
Anterior open bite between upper and lower teeth
Gap between upper and lower front teeth when biting
Absence or underdevelopment of the pubic bone.
Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.
An abnormality of the formation and mineralization of any bone of the bony pelvis.
Abnormal ossification involving the bones of the pelvis
Abnormal maturation of thigh bone head and neck
Abnormal ossification involving the femoral head and neck
Absent/underdeveloped head and neck of thighbone
Aplasia/Hypoplasia involving the femoral head and neck
Interruption of the innervation of the diaphragm.
A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.
Congenital absence of the left half of the diaphragm.
A decrease in the strength of the diaphragm.
Diaphragmatic paralysis is an extreme form of diaphragmatic weakness. Weakness of the diaphragm can result from abnormalities at any site along its neuromuscular axis, although it most frequently arises from diseases in the phrenic nerves or from myopathies affecting the diaphragm itself. Presence of diaphragmatic weakness may be suspected from the complaint of dyspnea (particularly on exertion) or orthopnea; or the presence of rapid, shallow breathing or, more importantly, paradoxical inward motion of the abdomen during inspiration on physical examination.
Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.
Aplasia/hypoplasia involving the skeleton
Aplasia/Hypoplasia involving bones of the skull
Absence or underdevelopment of the Maxilla.
Absence or underdevelopment of the mandible.
Absence or underdevelopment of frontal sinus.
Aplasia/Hypoplasia of the frontal sinuses
Absence or underdevelopment of a cranial sinus or sinuses.
Aplasia/Hypoplasia involving the sinuses
An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.
Aplasia/hypoplasia affecting bones of the axial skeleton
Mixed hypo- and hyperpigmentation of the skin
An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.
Inability to make and keep healthy fat tissue
An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).
Abnormality of the musculature of the limbs
Absent/underdeveloped muscles of extremities
Aplasia/Hypoplasia involving the musculature of the extremities
Muscular atrophy involving the muscles of the upper limbs.
Muscular atrophy involving the muscles of the hand.
Amyotrophy involving the musculature of the hand
This term can be used to described bilateral amyotrophy of the musculature of the hand.
A disease or lesion affecting the muscles of the thorax.
Abnormality of the musculature of the thorax
This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.
Abnormality of bone mineral density involving tarsal bones
An abnormal union between bones or parts of bones lower limbs.
Fusion involving the bones of the lower limbs
Synostosis involving bones of the lower limbs
Osteolysis involving bones of the lower limbs
Depletion of mitochondrial dna in skeletal muscle tissue
Depletion of mitochondrial DNA in muscle tissue
Duplication of bones involving the upper extremities
Supernumerary bones of the axial skeleton
Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.
Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.
Enlarged end part of the outermost bone of little finger
Enlarged end part of the outermost bone of pinkie finger
Enlarged end part of the outermost bone of pinky finger
Enlarged epiphysis of the distal phalanx of the 5th finger
Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.
Small end part of the outermost bone of little finger
Small end part of the outermost bone of pinkie finger
Small end part of the outermost bone of pinky finger
Small epiphysis of the distal phalanx of the 5th finger
A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the distal phalanx of the 5th finger
Triangular end part of the outermost bone of little finger
Triangular end part of the outermost bone of pinkie finger
Triangular end part of the outermost bone of pinky finger
Triangular epiphysis of the distal phalanx of the 5th finger
Abnormality of the proximal phalanx of the little (5th) finger.
Abnormality of the innermost bone little finger
Abnormality of the innermost bone pinkie finger
Abnormality of the innermost bone pinky finger
Abnormality of the proximal phalanx of the 5th finger
Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.
Abnormality of end part of little finger bone
Abnormality of end part of pinkie finger bone
Abnormality of end part of pinky finger bone
Abnormality of the epiphyses of the 5th finger
Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
Abnormality of end part of the innermost bone of little finger
Abnormality of end part of the innermost bone of pinkie finger
Abnormality of end part of the innermost bone of pinky finger
Abnormality of the epiphysis of the proximal phalanx of the 5th finger
A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the proximal phalanx of the 5th finger
Triangular end part of the innermost bone of little finger
Triangular end part of the innermost bone of pinkie finger
Triangular end part of the innermost bone of pinky finger
Triangular epiphysis of the proximal phalanx of the 5th finger
A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the innermost bone of little finger
Cone-shaped end part of the innermost bone of pinkie finger
Cone-shaped end part of the innermost bone of pinky finger
Angel-shaped epiphysis of the proximal phalanx of the 5th finger
Cone-shaped epiphysis of the proximal phalanx of the little finger
Cone-shaped epiphysis of the proximal phalanx of the 5th finger
Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the innermost bone of little finger
Increased bone density of end part of the innermost bone of pinkie finger
Increased bone density of end part of the innermost bone of pinky finger
Ivory epiphysis of the proximal phalanx of the little finger
Ivory epiphysis of the proximal phalanx of the 5th finger
Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.
Enlarged end part of the innermost bone of little finger
Enlarged end part of the innermost bone of pinkie finger
Enlarged end part of the innermost bone of pinky finger
Enlarged epiphysis of the proximal phalanx of the 5th finger
Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.
Small end part of the innermost bone of little finger
Small end part of the innermost bone of pinkie finger
Small end part of the innermost bone of pinky finger
Small epiphysis of the proximal phalanx of the 5th finger
Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.
Absent end part of the innermost bone of little finger
Absent end part of the innermost bone of pinkie finger
Absent end part of the innermost bone of pinky finger
Absent epiphysis of the proximal phalanx of the 5th finger
Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.
Absent/hypoplastic middle phalanx of 5th finger
Absent/small middle bone of pinky finger
Absent/underdeveloped middle bone of little finger
Absent/underdeveloped middle bone of pinkie finger
Absent/underdeveloped middle bone of pinky finger
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Absence of the middle phalanx of the little (5th) finger.
Aplasia of the middle phalanx of the 5th finger
obsolete Abnormal form of the 5th finger
Abnormal calcification of the wrist bones
Abnormal calcification of the carpal bones
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.
Speckled calcifications in end part of the outermost bone of little finger
Speckled calcifications in end part of the outermost bone of pinkie finger
Speckled calcifications in end part of the outermost bone of pinky finger
Stippling of the epiphysis of the distal phalanx of the 5th finger
Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.
Fragmentation of end part of the outermost bone of little finger
Fragmentation of end part of the outermost bone of pinkie finger
Fragmentation of end part of the outermost bone of pinky finger
Fragmentation of the epiphysis of the distal phalanx of the 5th finger
Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.
Irregular end part of the outermost bone of little finger
Irregular end part of the outermost bone of pinkie finger
Irregular end part of the outermost bone of pinky finger
Irregular epiphysis of the distal phalanx of the 5th finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.
Bullet-shaped middle phalanx of the 5th finger
Increased width of the middle phalanx of the 5th finger.
Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.
Osteolytic defects of the middle phalanx of the 5th finger
A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals.
Triangular end part of the long bone of hand
Abnormality of the phalanges of the 4th (ring) finger.
Abnormality of the phalanges of the ring finger
Curved appearance of the middle phalanx of the 5th finger.
Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.
Abnormality of the end part of the ring finger
Abnormality of the epiphyses of the 4th finger
Patchy increase in bone density of the middle phalanx of the 5th finger.
Uneven increase in bone density in the middle bone of the little finger
Uneven increase in bone density in the middle bone of the pinkie finger
Uneven increase in bone density in the middle bone of the pinky finger
Patchy sclerosis of the middle phalanx of the 5th finger
Fusion of the proximal and middle phalanges of the 5th finger.
Fused innermost and middle bones of little finger
Fused innermost and middle bones of pinkie finger
Fused innermost and middle bones of pinky finger
Symphalangism of the proximal and middle phalanges of the 5th finger
Proximal/middle symphalangism of 5th finger
Fusion of the middle phalanx of the 5th finger with another bone.
Symphalangism of middle phalanx of 5th finger
Displacement of the 5th finger from its normal position.
Displacement of the 5th finger towards the ulnar side.
Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped middle little finger bone
Triangular shaped middle pinkie finger bone
Triangular shaped middle pinky finger bone
Triangular shaped middle phalanx of the 5th finger
Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.
Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.
Contracture of the distal interphalangeal joint of the 5th finger
Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Contracture of the proximal interphalangeal joint of the 5th finger
Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.
Contracture of the metacarpophalangeal joint of the 5th finger
An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the outermost little finger bone
Bracket shaped end part of the outermost pinkie finger bone
Bracket shaped end part of the outermost pinky finger bone
Bracket epiphysis of the distal phalanx of the 5th finger
A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the distal phalanx of the 5th finger
Fragmented appearance of the epiphyses of the metacarpals.
Fragmentation of end part of the long bone of hand
Fragmentation of the metacarpal epiphyses
Irregular radiographic opacity of the epiphyses of the metacarpals.
Irregular end part of the long bone of hand
Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the long bone of hands
Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.
Absent/small innermost little finger bone
Absent/small innermost pinkie finger bone
Absent/small innermost pinky finger bone
Absent/underdeveloped innermost pinky finger bone
Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.
Accessory proximal metacarpal ossification centers
Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.
Speckled calcifications in end part of the long bone of hand
Stippling of the epiphyses of the metacarpals
Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.
Absent end part of the long bone of hand
An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the innermost bone of the little finger
Bracket shaped end part of the innermost bone of the pinkie finger
Bracket shaped end part of the innermost bone of the pinky finger
Bracket epiphysis of the proximal phalanx of the 5th finger
Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.
Abnormality of end part of the innermost bone of the little finger
Abnormality of end part of the innermost bone of the pinkie finger
Abnormality of end part of the innermost bone of the pinky finger
Abnormality of the epiphysis of the terminal phalanx of the little finger
Abnormality of the epiphysis of the distal phalanx of the 5th finger
Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.
Irregular end part of the innermost little finger bone
Irregular end part of the innermost pinkie finger bone
Irregular end part of the innermost pinky finger bone
Irregular epiphysis of the proximal phalanx of the 5th finger
A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the proximal phalanx of the 5th finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.
Speckled calcifications in end part of the innnermost bone of the little finger
Speckled calcifications in end part of the innnermost bone of the pinkie finger
Speckled calcifications in end part of the innnermost bone of the pinky finger
Stippling of the epiphysis of the proximal phalanx of the 5th finger
Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.
Fragmentation of end part of the innermost bone of the little finger
Fragmentation of end part of the innermost bone of the pinkie finger
Fragmentation of end part of the innermost bone of the pinky finger
Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.
Absent end part of the middle bone of the little finger
Absent end part of the middle bone of the pinkie finger
Absent end part of the middle bone of the pinky finger
Absent epiphysis of the middle phalanx of the 5th finger
An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the middle bone of the little finger
Bracket shaped end part of the middle bone of the pinkie finger
Bracket shaped end part of the middle bone of the pinky finger
Bracket epiphysis of the middle phalanx of the 5th finger
A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the middle bone of the little finger
Cone-shaped end part of the middle bone of the pinkie finger
Cone-shaped end part of the middle bone of the pinky finger
Cone-shaped epiphysis of the middle phalanx of the 5th finger
Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.
Enlarged end part of the middle bone of the little finger
Enlarged end part of the middle bone of the pinkie finger
Enlarged end part of the middle bone of the pinky finger
Enlarged epiphysis of the middle phalanx of the 5th finger
Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.
Fragmentation of end part of the middle bone of the little finger
Fragmentation of end part of the middle bone of the pinkie finger
Fragmentation of end part of the middle bone of the pinky finger
Fragmentation of the epiphysis of the middle phalanx of the 5th finger
Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.
Irregular end part of the middle bone of the little finger
Irregular end part of the middle bone of the pinkie finger
Irregular end part of the middle bone of the pinky finger
Irregular epiphysis of the middle phalanx of the 5th finger
Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the middle bone of little finger
Increased bone density of end part of the middle bone of pinkie finger
Increased bone density of end part of the middle bone of pinky finger
Ivory epiphysis of the middle phalanx of the 5th finger
A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the middle phalanx of the 5th finger
Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.
Small end part of the middle bone of the little finger
Small end part of the middle bone of the pinkie finger
Small end part of the middle bone of the pinky finger
Small epiphysis of the middle phalanx of the 5th finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.
Speckled calcifications in end part of the middle bone of the little finger
Speckled calcifications in end part of the middle bone of the pinkie finger
Speckled calcifications in end part of the middle bone of the pinky finger
Stippling of the epiphysis of the middle phalanx of the 5th finger
A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the middle phalanx of the 5th finger
Triangular end part of the middle bone of the little finger
Triangular end part of the middle bone of the pinkie finger
Triangular end part of the middle bone of the pinky finger
Triangular epiphysis of the middle phalanx of the 5th finger
Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.
Absent end part of the middle bone of the ring finger
Absent epiphysis of the middle phalanx of the 4th finger
An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the middle bone of the ring finger
Bracket epiphysis of the middle phalanx of the 4th finger
A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the middle bone of the ring finger
Cone-shaped epiphysis of the middle phalanx of the 4th finger
Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.
Enlarged end part of the middle bone of the ring finger
Enlarged epiphysis of the middle phalanx of the 4th finger
Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.
Fragmentation of end part of the middle bone of the ring finger
Fragmentation of the epiphysis of the middle phalanx of the 4th finger
Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.
Irregular end part of the middle bone of the ring finger
Irregular epiphysis of the middle phalanx of the 4th finger
Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the middle ring finger bone
Ivory epiphysis of the middle phalanx of the 4th finger
A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the middle phalanx of the 4th finger
Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.
Small end part of the middle bone of the ring finger
Small epiphysis of the middle phalanx of the 4th finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.
Speckled calcifications in end part of the middle bone of the ring finger
Stippling of the epiphysis of the middle phalanx of the 4th finger
A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the middle phalanx of the 4th finger
Triangular end part of the middle bone of the ring finger
Triangular epiphysis of the middle phalanx of the 4th finger
Absence of the proximal phalanx of the little (5th) finger.
Aplasia of the proximal phalanx of the 5th finger
Absence or underdevelopment (hypoplasia) of the proximal phalanx of the fifth finger.
Hypoplastic/small proximal phalanx of the 5th finger
Short proximal phalanx of the fifth finger
Short proximal phalanx of the 5th finger
Increased width of the proximal phalanx of the 5th finger.
Broad proximal phalanx of the 5th finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.
Bullet-shaped innermost little finger bone
Bullet-shaped innermost pinkie finger bone
Bullet-shaped innermost pinky finger bone
Bullet-shaped proximal phalanx of the 5th finger
Curved appearance of the proximal phalanx of the 5th finger.
Curved proximal phalanx of the 5th finger
Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.
Osteolytic defects of the proximal phalanx of the 5th finger
Patchy increase in bone density of the proximal phalanx of the 5th finger.
Uneven increase in bone density in the innermost bone of little finger
Uneven increase in bone density in the innermost bone of pinkie finger
Uneven increase in bone density in the innermost bone of pinky finger
Patchy sclerosis of the proximal phalanx of the 5th finger
Fusion of the proximal phalanx of the 5th finger with another bone.
Symphalangism affecting the proximal phalanx of the 5th finger
Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped innermost little finger bone
Triangular shaped innermost pinkie finger bone
Triangular shaped innermost pinky finger bone
Triangular shaped proximal phalanx of the 5th finger
Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.
Fused innermost bone of little finger with 5th long bone of hand
Fused innermost bone of pinkie finger with 5th long bone of hand
Fused innermost bone of pinky finger with 5th long bone of hand
Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal
Rhomboid or triangular shaped 5th (little) finger proximal phalanx.
Rhomboid or triangular shaped innermost bone of little finger
Rhomboid or triangular shaped innermost bone of pinkie finger
Rhomboid or triangular shaped innermost bone of pinky finger
Rhomboid or triangular shaped 5th finger proximal phalanx
Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.
Hypoplastic phalanges of the little finger
Absent/small outermost bone of little finger
Absent/small outermost bone of pinkie finger
Absent/small outermost bone of pinky finger
Absent/underdeveloped outermost bone of pinky finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Increased width of the distal phalanx of the 5th finger.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.
Bullet-shaped outermost little finger bone
Bullet-shaped outermost pinkie finger bone
Bullet-shaped outermost pinky finger bone
Bullet-shaped distal phalanx of the 5th finger
Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.
Osteolytic defects of the distal phalanx of the 5th finger
Patchy increase in bone density of the distal phalanx of the 5th finger.
Uneven increase in bone density in the outermost bone of little finger
Uneven increase in bone density in the outermost bone of pinkie finger
Uneven increase in bone density in the outermost bone of pinky finger
Patchy sclerosis of the distal phalanx of the 5th finger
Fusion of the terminal/distal and middle phalanges of the 5th finger.
Fifth finger distal interphalangeal joint symphalangism
Fused end and middle bones of little finger
Fused end and middle bones of pinkie finger
Fused end and middle bones of pinky finger
Symphalangism of the distal and middle phalanges of the 5th finger
Symphalangism of the terminal and middle phalanges of the 5th finger
Fusion of the terminal and middle phalanges of the 5th finger
Distal/middle symphalangism of 5th finger
Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped outermost little finger bone
Triangular shaped outermost pinkie finger bone
Triangular shaped outermost pinky finger bone
Triangular shaped distal phalanx of the 5th finger
Absence of the distal phalanx of the little (5th) finger.
Aplasia of the distal phalanx of the 5th finger
Abnormality of the end part of the middle bone of the ring finger
Abnormality of the epiphysis of the middle phalanx of the 4th finger
Abnormality of the end part of the innermost bone of the ring finger
Abnormality of the epiphysis of the proximal phalanx of the 4th finger
Abnormality of the end part of the outermost bone of the ring finger
Abnormality of the epiphysis of the distal phalanx of the 4th finger
Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.
Absent end part of the outermost bone of the ring finger
Absent epiphysis of the distal phalanx of the 4th finger
An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the outermost bone of the ring finger
Bracket epiphysis of the distal phalanx of the 4th finger
A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the outermost bone of the ring finger
Cone-shaped epiphysis of the distal phalanx of the 4th finger
Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.
Enlarged end part of the outermost bone of the ring finger
Enlarged epiphysis of the distal phalanx of the 4th finger
Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.
Fragmentation of end part of the outermost bone of the ring finger
Fragmentation of the epiphysis of the distal phalanx of the 4th finger
Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.
Irregular end part of the outermost bone of the ring finger
Irregular epiphysis of the distal phalanx of the 4th finger
Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the outermost ring finger bone
Ivory epiphysis of the distal phalanx of the 4th finger
A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the distal phalanx of the 4th finger
Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.
Small end part of the outermost bone of the ring finger
Small epiphysis of the distal phalanx of the 4th finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.
Speckled calcifications in the end part of the outermost bone of the ring finger
Stippling of the epiphysis of the distal phalanx of the 4th finger
A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the distal phalanx of the 4th finger
Triangular end part of the outermost bone of ring finger
Triangular epiphysis of the distal phalanx of the 4th finger
Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.
Absent end part of the innermost bone of the ring finger
Absent epiphysis of the proximal phalanx of the 4th finger
An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket proximal epiphysis of the ring finger
Bracket shaped end part of the innermost bone of the ring finger
Bracket epiphysis of the proximal phalanx of the 4th finger
A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the innermost bone of the ring finger
Cone-shaped epiphysis of the proximal phalanx of the 4th finger
Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.
Enlarged end part of the innermost bone of the ring finger
Enlarged epiphysis of the proximal phalanx of the 4th finger
Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.
Fragmentation of end part of the innermost bone of the ring finger
Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.
Irregular end part of the innermost bone of the ring finger
Irregular epiphysis of the proximal phalanx of the 4th finger
Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the innermost ring finger bone
Ivory epiphysis of the proximal phalanx of the 4th finger
A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the proximal phalanx of the 4th finger
Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.
Small end part of the innermost bone of the ring finger
Small epiphysis of the proximal phalanx of the 4th finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.
Speckled calcifications in end part of the innermost bone of ring finger
Stippling of the epiphysis of the proximal phalanx of the 4th finger
A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the proximal phalanx of the 4th finger
Triangular end part of the innermost bone of ring finger
Triangular epiphysis of the proximal phalanx of the 4th finger
A small/hypoplastic or absent/aplastic 4th (ring) finger.
Displacement of the 4th finger from its normal position.
Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.
Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.
Contracture of the distal interphalangeal joint of the 4th finger
Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.
Contracture of the proximal interphalangeal joint of the 4th finger
Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.
Contracture of the metacarpophalangeal joint of the 4th finger
Displacement of the 4th finger towards the ulnar side (i.e., towards the ring finger).
Displacement of the 4th finger towards the radial side (i.e., towards the thumb).
Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.
Abnormality of the outermost bone of ring finger
Abnormality of the distal phalanx of the 4th finger
Abnormality of the middle phalanx of the ring finger
Abnormality of the middle phalanx of the 4th finger
Abnormality of the proximal phalanx of the ring finger
Abnormality of the proximal phalanx of the 4th finger
Curved appearance of the phalanges of the 4th (ring) finger.
Curved appearance of the distal phalanx of the 4th (ring) finger.
Curved appearance of the middle phalanx of the 4th (ring) finger.
Curved proximal phalanx of the 4th finger
Absent/underdeveloped outermost ring finger bone
Aplasia/Hypoplasia of the distal phalanx of the 4th finger
Hypoplastic/small distal phalanx of the fourth finger.
Hypoplastic/small distal phalanx of the 4th finger
Short distal phalanx of the fourth finger
Absence of the distal phalanx of the ring (4th) finger.
Aplasia of the distal phalanx of the 4th finger
Increased width of the distal phalanx of the 4th finger.
Increased width of the middle phalanx of the 4th finger.
Absence of the middle phalanx of the ring (4th) finger.
Aplasia of the middle phalanx of the 4th finger
Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.
Hypoplastic/small middle phalanx of ring finger
Hypoplastic/small middle phalanx of the 4th finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.
Bullet-shaped middle bone of the 4th finger
Bullet-shaped middle phalanx of the 4th finger
Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.
Osteolytic defects of the middle phalanx of the 4th finger
Absence of the proximal phalanx of the ring (4th) finger.
Aplasia of the proximal phalanx of the 4th finger
Absent/underdeveloped middle ring finger bone
Aplasia/Hypoplasia of the middle phalanx of the 4th finger
Absent/underdeveloped innermost ring finger bone
Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
Hypoplastic/small proximal phalanx of the fourth finger.
Hypoplastic/small proximal phalanx of the 4th finger
Short proximal phalanx of the fourth finger
Short proximal phalanx of the 4th finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.
Bullet-shaped outermost bone of ring finger
Bullet-shaped distal phalanx of the 4th finger
Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.
Osteolytic defects of the distal phalanx of the 4th finger
Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.
Uneven increase in bone density in the outermost bone of the ring finger
Patchy sclerosis of the distal phalanx of the 4th finger
Fusion of the terminal/distal and middle phalanges of the 4th finger.
Fused outermost and middle bones of ring finger
Symphalangism of the distal and middle phalanges of the 4th finger
Distal/middle symphalangism of 4th finger
Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped outermost bone of the ring finger
Triangular shaped distal phalanx of the 4th finger
Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.
Uneven increase in bone density in the middle bone of the ring finger
Patchy sclerosis of the middle phalanx of the 4th finger
Fusion of the middle phalanx of the 4th finger with another bone.
Symphalangism of middle phalanx of 4th finger
Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped middle bone of the ring finger
Triangular shaped middle phalanx of the 4th finger
Increased width of the proximal phalanx of the 4th finger.
Broad proximal phalanx of the 4th finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.
Bullet-shaped innermost ring finger bone
Bullet-shaped proximal phalanx of the 4th finger
Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.
Osteolytic defects of the proximal phalanx of the 4th finger
Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.
Uneven increase in bone density in the innermost bone of the ring finger
Patchy sclerosis of the proximal phalanx of the 4th finger
Fusion of the proximal phalanx of the 4th finger with another bone.
Symphalangism affecting the proximal phalanx of the 4th finger
Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped innermost bone of the 4th finger
Triangular shaped innermost bone of the ring finger
Triangular shaped proximal phalanx of the 4th finger
Abnormality of the phalanges of the 3rd (middle) finger.
Abnormality of the phalanges of the 3rd finger
Displacement of the 3rd finger from its normal position.
A small/hypoplastic or absent/aplastic 3rd (middle) finger.
Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.
Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.
Abnormality of end part of the middle bone of the middle finger
Abnormality of the epiphyses of the 3rd finger
Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.
Absent end part of the middle bone of the middle finger
Absent epiphysis of the middle phalanx of the 3rd finger
An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the middle bone of the middle finger
Bracket epiphysis of the middle phalanx of the 3rd finger
A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the middle bone of the middle finger
Cone-shaped epiphysis of the middle phalanx of the 3rd finger
Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.
Enlarged end part of the middle bone of the middle finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.
Fragmentation of end part of the middle bone of the middle finger
Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.
Irregular end part of the middle bone of the middle finger
Irregular epiphysis of the middle phalanx of the 3rd finger
Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the middle bone of the middle finger
Ivory epiphysis of the middle phalanx of the 3rd finger
A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of middle phalanx of middle-finger
Pseudoepiphysis of the middle phalanx of the 3rd finger
Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.
Small end part of the middle bone of the middle finger
Small epiphysis of the middle phalanx of the 3rd finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.
Speckled calcifications in end part of the middle bone of the middle finger
Stippling of the epiphysis of the middle phalanx of the 3rd finger
A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the middle phalanx of the 3rd finger
Triangular end part of the middle bone of the middle finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Abnormality of the end part of the outermost bone of the middle finger
Abnormality of the epiphysis of the distal phalanx of the 3rd finger
Abnormality of the end part of the innermost bone of the middle finger
Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
Abnormality of the end part of the middle bone of the middle finger
Abnormality of the epiphysis of the middle phalanx of the 3rd finger
Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.
Absent end part of the outermost bone of the middle finger
Absent epiphysis of the distal phalanx of the 3rd finger
An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the outermost bone of the middle finger
Bracket epiphysis of the distal phalanx of the 3rd finger
A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the outermost bone of the middle finger
Cone-shaped epiphysis of the distal phalanx of the 3rd finger
Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.
Enlarged end part of the outermost bone of the 3rd finger
Enlarged epiphysis of the distal phalanx of the 3rd finger
Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.
Fragmentation of end part of the outermost bone of the middle finger
Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.
Irregular end part of the outermost long bone of the middle finger
Irregular epiphysis of the distal phalanx of the 3rd finger
Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the outermost middle finger bone
Ivory epiphysis of the distal phalanx of the 3rd finger
A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the outermost bone of the middle finger
Pseudoepiphysis of the distal phalanx of the 3rd finger
Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.
Small end part of the outermost long bone of the middle finger
Small epiphysis of the distal phalanx of the 3rd finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.
Speckled calcifications in end part of the outermost long bone of the middle finger
Stippling of the epiphysis of the distal phalanx of the 3rd finger
A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the distal phalanx of the 3rd finger
Triangular end part of the outermost long bone of the middle finger
Triangular epiphysis of the distal phalanx of the 3rd finger
Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.
Absent end part of innermost long bone of the middle finger
Absent epiphysis of the proximal phalanx of the 3rd finger
An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of innermost long bone of the middle finger
Bracket epiphysis of the proximal phalanx of the 3rd finger
A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the innermost bone of the middle finger
Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.
Enlarged end part of innermost long bone of the middle finger
Large epiphysis of proximal middle-finger phalanx
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.
Fragmentation of end part of innermost long bone of the middle finger
Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.
Irregular end part of innermost long bone of the middle finger
Irregular epiphysis of the proximal phalanx of the 3rd finger
Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the innermost middle finger bone
Ivory epiphysis of the proximal phalanx of the 3rd finger
A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the proximal phalanx of the 3rd finger
Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.
Small end part of innermost long bone of the middle finger
Small epiphysis of the proximal phalanx of the 3rd finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.
Speckled calcifications in end part of innermost long bone of the middle finger
Stippling of the epiphysis of the proximal phalanx of the 3rd finger
A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Delta-shaped epiphysis of the proximal phalanx of the 3rd finger
Triangular end part of innermost long bone of the middle finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Abnormality of terminal phalanx of middle-finger
Abnormality of the outermost bone of the 3rd finger
Abnormality of the distal phalanx of the 3rd finger
Abnormal innermost bone of middle finger
Abnormality of proximal middle-finger phalanx
Abnormality of the proximal phalanx of the 3rd finger
Increased width of the phalanges of the 5th finger.
A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped phalanges of the 5th finger
Aplasia/Hypoplasia of the phalanges of the 5th finger.
Absent/underdeveloped pinky finger bones
Uneven increase in bone density of one or more of the phalanges of the 5th finger.
Patchy sclerosis of the phalanges of the 5th finger
Uneven increase in bone density in little finger bone
Uneven increase in bone density in pinkie finger bone
Uneven increase in bone density in pinky finger bone
Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped phalanges of the 5th finger
Rhomboid or triangular shaped 5th (little) finger distal phalanx.
Rhomboid or triangular shaped little finger bone
Rhomboid or triangular shaped pinkie finger bone
Rhomboid or triangular shaped pinky finger bone
Rhomboid or triangular shaped 5th finger distal phalanx
Abnormally short finger associated with developmental hypoplasia.
Absence of one or more epiphyses of the 5th finger.
An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of little finger bone
Bracket shaped end part of pinkie finger bone
Bracket shaped end part of pinky finger bone
A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Cone-shaped end part of the little finger bones
Cone-shaped end part of the pinkie finger bones
Cone-shaped end part of the pinky finger bones
Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.
Enlarged end part of the little finger bones
Enlarged end part of the pinkie finger bones
Enlarged end part of the pinky finger bones
Fragmented appearance of the epiphyses of the 5th finger.
Fragmentation of the end part of the little finger bones
Fragmentation of the end part of the pinkie finger bones
Fragmentation of the end part of the pinky finger bones
Fragmentation of the epiphyses of the 5th finger
Irregular radiographic opacity of the epiphyses of the 5th finger.
Irregular end part of the little finger bones
Irregular end part of the pinkie finger bones
Irregular end part of the pinky finger bones
Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the little finger
Increased bone density of end part of the pinkie finger
Increased bone density of end part of the pinky finger
A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.
Speckled calcifications in end part of little finger bone
Speckled calcifications in end part of pinkie finger bone
Speckled calcifications in end part of pinky finger bone
Stippling of the epiphyses of the 5th finger
A triangular appearance of the epiphyses of the 5th finger of the hand.
Delta-shaped epiphyses of the 5th finger
Triangular end part of the little finger
Triangular end part of the pinkie finger
Absence of one or more epiphyses of the 4th finger.
An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of ring finger bones
A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Cone-shaped end part of the ring finger bones
Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.
Enlarged end part of the ring finger bones
Fragmented appearance of the epiphyses of the 4th finger.
Fragmentation of the end part of the ring finger bones
Fragmentation of the epiphyses of the 4th finger
Irregular radiographic opacity of the epiphyses of the 4th finger.
Irregular end part of the ring finger bones
Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the ring finger bone
A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.
Speckled calcifications in end part of ring finger bone
Stippling of the epiphyses of the 4th finger
A triangular appearance of the epiphyses of the 4th finger of the hand.
Delta-shaped epiphyses of the 4th finger
Increased width of the phalanges of the 4th finger.
A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped phalanges of the 4th finger
Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.
Patchy sclerosis of the phalanges of the 4th finger
Uneven increase in bone density in ring finger bone
Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped phalanges of the 4th finger
Aplasia/Hypoplasia of the phalanges of the 4th finger
Absence of the epiphyses of the 3rd finger.
An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of middle finger bone
A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Cone-shaped end part of middle finger bone
Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.
Fragmented appearance of the epiphyses of the 3rd finger.
Fragmentation of end part of middle finger bone
Fragmentation of the epiphyses of the 3rd finger
Irregular radiographic opacity of the epiphyses of the 3rd finger.
Irregular end part of middle finger bone
Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the middle finger bone
A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of middle finger phalanges
Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.
Speckled calcifications in end part of middle finger bone
Stippling of the epiphyses of the 3rd finger
A triangular appearance of the epiphyses of the 3rd finger of the hand.
Delta-shaped epiphyses of the 3rd finger
Triangular end part of middle finger bone
Absent/small outermost middle finger bone
Absent/underdeveloped outermost middle finger bone
Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
Increased width of the distal phalanx of the 3rd finger.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.
Bullet-shaped outermost bone of the middle finger
Bullet-shaped distal phalanx of the 3rd finger
Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.
Lytic defect of terminal phalanx of middle finger
Osteolytic defects of the distal phalanx of the 3rd finger
Uneven (irregular) increase in bone density of the distal phalanx of the third finger.
Uneven increase in bone density in the outermost bone of the 3rd finger
Patchy sclerosis of the distal phalanx of the 3rd finger
Fusion of the terminal/distal and middle phalanges of the 3rd finger.
Fused outermost and middle bones of middle finger
Symphalangism of the distal and middle phalanges of the 3rd finger
Distal/middle symphalangism of 3rd finger
Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped outermost bone of the middle finger
Triangular shaped distal phalanx of the 3rd finger
Curved appearance of the distal phalanx of the 3rd finger.
Absence of the distal phalanx of the middle (3rd) finger.
Absent of the outermost bone of the middle finger
Aplasia of the distal phalanx of the 3rd finger
Increased width of the middle phalanx of the 3rd finger.
Wide/broad middle phalanx of middle-finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.
Bullet-shaped middle bone of middle finger
Bullet-shaped middle phalanx of the 3rd finger
Curved appearance of the middle phalanx of the 3rd (middle) finger.
Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.
Osteolytic defects of the middle phalanx of the 3rd finger
Uneven (irregular) increase in bone density of the middle phalanx of the third finger.
Uneven increase in bone density in the middle bone of the middle finger
Patchy sclerosis of the middle phalanx of the 3rd finger
Fusion of the middle phalanx of the 3rd finger with another bone.
Symphalangism of middle phalanx of 3rd finger
Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped middle bone of the middle finger
Triangular shaped middle phalanx of the 3rd finger
Absent/small middle bone of the middle finger
Absent/underdeveloped middle bone of the middle finger
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
Absence of the middle phalanx of the middle (3rd) finger.
Aplasia of the middle phalanx of the 3rd finger
Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.
Hypoplastic/small middle phalanx of the 3rd finger
Increased width of the phalanges of the 3rd finger.
A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped phalanges of the 3rd finger
Curved appearance of the phalanges of the 3rd finger.
Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.
Lytic defects of middle finger phalanges
Osteolytic defects of the phalanges of the 3rd finger
Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.
Patchy sclerosis of middle finger phalanges
Patchy sclerosis of the phalanges of the 3rd finger
Uneven increase in bone density in middle finger bone
Fusion of two or more bones of the 3rd finger.
Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped bone of the middle finger
Triangular shaped phalanges of the 3rd finger
Absent/underdeveloped middle finger bone
Aplasia/Hypoplasia of the phalanges of the 3rd finger
obsolete Aplasia of the phalanges of the 3rd finger
obsolete Hypoplastic/small phalanges of the 3rd finger
Increased width of the proximal phalanx of the 3rd finger.
Broad proximal phalanx of the 3rd finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.
Bullet-shaped innermost bone of the middle finger
Bullet-shaped proximal phalanx of the 3rd finger
Curved appearance of the proximal phalanx of the 3rd finger.
Curved proximal phalanx of the 3rd finger
Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.
Osteolytic defects of the proximal phalanx of the 3rd finger
Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.
Uneven increase in bone density in the innermost bone of the middle finger
Patchy sclerosis of the proximal phalanx of the 3rd finger
Fusion of the proximal phalanx of the 3rd finger with another bone.
Symphalangism affecting the proximal phalanx of the 3rd finger
Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped innermost bone of middle finger
Triangular shaped proximal phalanx of the 3rd finger
Absent/small innermost bone of middle finger
Absent/underdeveloped innermost bone of middle finger
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
Absence of the proximal phalanx of the 3rd finger.
Aplasia of the proximal phalanx of the 3rd finger
Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.
Hypoplastic/small proximal phalanx of the 3rd finger
Short proximal phalanx of the third finger
Short proximal phalanx of the 3rd finger
Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).
Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).
Displacement of the 2nd (index) finger towards the ulnar side.
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Displacement of the 2nd finger towards the radial side.
Displacement of the 2nd finger from its normal position.
Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
Contracture of the outermost hinge joint of the 3rd finger
Contracture of the distal interphalangeal joint of the 3rd finger
Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
Contracture of the metacarpophalangeal joint of the 3rd finger
Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
Contracture of the proximal interphalangeal joint of the 3rd finger
Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Fusion of the proximal and middle phalanges of the 4th finger.
Fused innermost and middle bone of index finger
Proximal/middle symphalangism of 4th finger
Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.
Fused innermost bone of ring finger with 4th long bone of hand
Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal
Fusion of the proximal and middle phalanges of the 3rd finger.
Fused of innermost and middle bones of middle finger
Proximal/middle symphalangism of 3rd finger
Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.
Fused innermost bones of middle finger with middle long bone of hand
Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal
Displacement of the hand or of fingers of the hand from their normal position.
Deviation of the hand or of fingers of the hand
Radial deviation of the hand or of fingers of the hand
An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).
Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).
Absence of the epiphyses of the 2nd finger.
An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Cone-shaped end part of the index finger
Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.
Fragmented appearance of the epiphyses of the 2nd finger.
Fragmentation of end part of the index finger
Fragmentation of the epiphyses of the 2nd finger
Irregular radiographic opacity of the epiphyses of the 2nd finger.
Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the index finger bone
A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.
Speckled calcifications in end part of the index finger
Stippling of the epiphyses of the 2nd finger
A triangular appearance of the epiphyses of the 2nd finger of the hand.
Abnormality of the end part of the outermost bone of the index finger
Epiphyseal abnormality of terminal index finger phalanx
Abnormality of the epiphysis of the distal phalanx of the 2nd finger
Abnormality of end part of the middle bone of the index finger
Epiphyseal abnormality of middle phalanx of the 2nd finger
Abnormality of the epiphysis of the middle phalanx of the 2nd finger
Abnormality of end part of the outermost bone of the index finger
Epiphyseal abnormality of the proximal phalanx of the 2nd finger
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.
Absent end part of the outermost bone of the index finger
Absent ossification/absent epiphysis of terminal index finger phalanx
Absent epiphysis of the distal phalanx of the 2nd finger
An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the outermost bone of the index finger
Bracket epiphysis of the distal phalanx of the 2nd finger
A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of the outermost bone of the index finger
Cone-shaped epiphysis of the distal phalanx of the 2nd finger
Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.
Enlarged end part of the outermost bone of the index finger
Enlarged epiphysis of the distal phalanx of the 2nd finger
Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.
Fragmentation of end part of the outermost bone of the index finger
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.
Irregular end part of the outermost bone of the index finger
Irregular epiphysis of the distal phalanx of the 2nd finger
Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the outermost bone of the index finger
Ivory epiphysis of terminal index finger phalanx
Ivory epiphysis of the distal phalanx of the 2nd finger
A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the distal phalanx of the 2nd finger
Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.
Small end part of the outermost bone of the index finger
Small epiphysis of the distal phalanx of the 2nd finger
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.
Speckled calcifications in end part of the outermost bone of the index finger
Stippling of the epiphysis of the distal phalanx of the 2nd finger
A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Triangular end part of the outermost bone of the index finger
Triangular epiphysis of the distal phalanx of the 2nd finger
Absent epiphyses of middle phalanx of index finger
Missing end part of the middle long bone of the index finger
Absent epiphysis of the middle phalanx of the 2nd finger
An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the middle long bone of the index finger
Bracket epiphysis of the middle phalanx of the 2nd finger
Cone-shaped end part of the middle long bone of the index finger
Cone-shaped epiphyses of middle phalanx of index finger
Cone-shaped epiphysis of the middle phalanx of the 2nd finger
Enlarged end part of the middle bone of the index finger
Enlarged epiphysis of the middle phalanx of the 2nd finger
Fragmentation of end part of the middle long bone of the index finger
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
Irregular end part of the middle long bone of the index finger
Irregular epiphysis of the middle phalanx of the 2nd finger
Increased bone density of end part of the middle bone of the index finger
Ivory epiphysis of the middle phalanx of the 2nd finger
A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the middle phalanx of the 2nd finger
Small end part of the innermost long bone of index finger
Small epiphysis of the middle phalanx of the 2nd finger
Speckled calcifications in end part of the middle bone of the index finger
Stippling of the epiphysis of the middle phalanx of the 2nd finger
Triangular end part of the middle bone of the index finger
Triangular epiphysis of the middle phalanx of the 2nd finger
Absent end part of innermost long bone of index finger
Absent epiphysis of the proximal phalanx of the 2nd finger
An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket epiphyses of proximal index finger phalanx
Bracket shaped end part of innermost long bone of index finger
Bracket epiphysis of the proximal phalanx of the 2nd finger
Cone-shaped end part of innermost long bone of index finger
Cone-shaped epiphysis of proximal index finger phalanx
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
Enlarged end part of innermost long bone of index finger
Large epiphysis of proximal index finger phalanx
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Fragmentation of end part of innermost long bone of index finger
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
Irregular end part of innermost long bone of index finger
Irregular epiphysis of the proximal phalanx of the 2nd finger
Increased bone density of end part of the innermost bone of the index finger
Ivory epiphysis of the proximal phalanx of the 2nd finger
A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphysis of the proximal phalanx of the 2nd finger
Small end part of proximal long bond of index finger
Small epiphysis of the proximal phalanx of the 2nd finger
Speckled calcifications in end part of the innermost long bone of index finger
Stippling of the epiphysis of the proximal phalanx of the 2nd finger
Triangular end part of innermost long bone of index finger
Triangular epiphysis of proximal index finger phalanx
Triangular epiphysis of the proximal phalanx of the 2nd finger
Hypoplasia of the second finger, also known as the index finger.
Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.
Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Contracture of the distal interphalangeal joint of the 2nd finger
Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Contracture of the metacarpophalangeal joint of the 2nd finger
Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Contracture of the proximal interphalangeal joint of the 2nd finger
Abnormality of the phalanges of the 2nd (index) finger.
Abnormality of the phalanges of the 2nd finger
Abnormality of terminal index finger phalanx
Abnormality of the outermost bone of the 2nd finger
Abnormality of the distal phalanx of the 2nd finger
Abnormality of middle 2nd finger phalanx
Abnormality of the middle phalanx of the 2nd finger
Abnormality of the proximal 2nd finger phalanx
Abnormality of the proximal phalanx of the 2nd finger
Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped phalanges of the 2nd finger
A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped phalanges of the 2nd finger
Osteolytic defects of the phalanges of the 2nd finger
Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.
Patchy sclerosis of the phalanges of the 2nd finger
Uneven increase in bone density in index finger bone
Aplasia/Hypoplasia of the phalanges of the 2nd finger
The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.
An tongue-like extension of hair towards the cheeks.
Projection of scalp hair onto lateral cheek
Absent/small outermost index finger bone
Absent/underdeveloped outermost index finger bone
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
Increased width of the distal phalanx of the 2nd finger.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.
Bullet-shaped outermost bone of the index finger
Bullet-shaped distal phalanx of the 2nd finger
Curved appearance of the distal phalanx of the 2nd finger.
Curved outermost bone of the index finger
Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.
Acro-osteolysis of terminal index finger phalanx
Osteolytic defects of the outermost bone of the 2nd finger
Osteolytic defects of the distal phalanx of the 2nd finger
Uneven (irregular) increase in bone density of the distal phalanx of the second finger.
Uneven increase in bone density in the outermost bone of the 2nd finger
Patchy sclerosis of the distal phalanx of the 2nd finger
Fusion of the terminal/distal and middle phalanges of the 2nd finger.
Fused outermost and middle index finger bones
Symphalangism of the distal and middle phalanges of the 2nd finger
Distal/middle symphalangism of 2nd finger
Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped outermost bone of the 2nd finger
Triangular shaped distal phalanx of the 2nd finger
Aplasia of the distal phalanx of the 2nd finger
Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.
Hypoplastic terminal index finger phalanx
Hypoplastic/small distal phalanx of the 2nd finger
Short distal phalanx of the second finger
Short outermost bone of the index finger
Absent/hypoplastic middle phalanx of 2nd finger
Absent/underdeveloped middle index finger bone
Hypoplastic/aplastic middle phalanx of index finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Increased width of the middle phalanx of the second finger.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.
Bullet-shaped middle bone of index finger
Bullet-shaped middle phalanx of the 2nd finger
Curved appearance of the middle phalanx of the 2nd finger.
Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.
Lytic defects of middle index finger phalanx
Osteolytic defects of the middle phalanx of the 2nd finger
Uneven (irregular) increase in bone density of the middle phalanx of the second finger.
Uneven increase in bone density in the middle bone of the index finger
Patchy sclerosis of the middle phalanx of the 2nd finger
Fusion of the middle phalanx of the 2nd finger with another bone.
Symphalangism of middle phalanx of 2nd finger
Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped middle bone of index finger
Triangular shaped middle phalanx of the 2nd finger
Absence of the middle phalanx of the index (2nd) finger.
Aplasia of the middle phalanx of the 2nd finger
Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.
Hypoplastic/small middle phalanx of the 2nd finger
Fusion of the proximal and middle phalanges of the 2nd finger.
Fused innermost and middle index finger bones
Proximal/middle symphalangism of the 2nd finger
Absent/small innermost index finger bone
Absent/underdeveloped innermost index finger bone
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
Increased width of the proximal phalanx of the 2nd finger.
Wide/broad proximal index finger phalanx
Broad proximal phalanx of the 2nd finger
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.
Bullet-shaped innermost bone of index finger
Bullet-shaped proximal phalanx of the 2nd finger
Curved appearance of the proximal phalanx of the 2nd finger.
Curved proximal phalanx of the 2nd finger
Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.
Lytic defects of proximal index finger phalanx
Osteolytic defects of the proximal phalanx of the 2nd finger
Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.
Uneven increase in bone density in innermost index finger bone
Patchy sclerosis of the proximal phalanx of the 2nd finger
Fusion of the proximal phalanx of the 2nd finger with another bone.
Symphalangism affecting the proximal phalanx of the 2nd finger
Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular proximal index finger phalanx
Triangular shaped innermost bone of index finger
Triangular shaped proximal phalanx of the 2nd finger
A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.
A bilateral vestibular Schwannoma (acoustic neurinoma).
A unilateral vestibular Schwannoma (acoustic neurinoma).
Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain.
Abnormality of the vestibulocochlear nerve
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
The presence of a peripheral schwannoma.
A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells.
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1.
Absence of the proximal phalanx of the 2nd finger.
Aplasia of the proximal phalanx of the 2nd finger
Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.
Hypoplastic/small proximal phalanx of the 2nd finger
Short proximal phalanx of the second finger
Short proximal phalanx of the 2nd finger
Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.
Fused innermost bone of index finger with 2nd long bone of hand
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal
Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.
Abnormality of end part of thumb long bone
Abnormality of the epiphyses of the thumb
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.
A structural anomaly of one or more phalanges of the thumb.
Displacement of the thumb from its normal position.
Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.
Complete duplication of outermost bone of the thumb
Complete duplication of distal phalanx of the thumb
Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Complete duplication of the innermost bone of the thumb
Complete duplication of proximal phalanx of the thumb
Partail or complete duplication of the first metacarpal bone.
Partial/complete duplication of the 1st long bone of hand
Partial/complete duplication of the 1st metacarpal
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side.
Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.
Incipient distal thumb phalanx duplication
Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.
Duplication of the outermost bone of the thumb
Partial/complete duplication of the distal phalanx of the thumb
Duplication of the distal phalanx of the thumb
Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Partial/complete duplication of the proximal phalanx of the thumb
Duplication of the proximal phalanx of the thumb
This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Complete duplication of the first metacarpal bone.
Complete duplication of the first long bone of hand
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin, equivalent to the proximal phalanges of the other digits. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side. This term applies if the first metacarpal is completely duplicated.
Complete duplication of the first metacarpal
Partial duplication of the first metacarpal bone.
partial duplication of the first metacarpal
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin (equivalent to the proximal phalanges of the other digits). This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal) to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape.
Any anomaly of the distal phalanx of thumb.
Abnormality of the outermost bone of the thumb
Abnormality of the distal phalanx of the thumb
An anomaly of the shape or form of the proximal phalanx of the thumb.
In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Abnormality of the proximal phalanx of the thumb
Insertion of thumb at a more distal location than normal.
Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly.
Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.
Contractures of the carpometacarpal joint of the thumb
Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.
Contractures of the metacarpophalangeal joint of the thumb
Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.
Interphalangeal extension contractures of thumbs
Contractures of the interphalangeal joint of the thumb
This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Absent/underdeveloped innermost thumb bone
Aplasia/Hypoplasia of the proximal phalanx of the thumb
Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.
Bullet-shaped proximal phalanx of the thumb
A deviation from the normal straight shape of the proximal phalanx of the thumb.
Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.
Osteolytic defects of the proximal phalanx of the thumb
Osteolytic defect of the proximal phalanx of the thumb
An uneven increase in bone density of the proximal phalanx of the thumb.
Uneven increase in bone density in the innermost thumb bone
Patchy sclerosis of the proximal phalanx of the thumb
Fusion of a phalanx of the thumb with another bone.
Triangular shaped proximal phalanx of the thumb.
Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Absent ossification/absent proximal thumb phalanx
Aplasia of the proximal phalanx of the thumb
Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Hypoplastic/small proximal phalanx of the thumb
Fusion of the proximal phalanx of the thumb with the 1st metacarpal.
Fusion of the innermost bone of the thumb with the 1st long bone of hand
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal
Absent/underdeveloped outermost thumb bone
Aplasia/Hypoplasia of the distal phalanx of the thumb
Increased width of the distal phalanx of thumb.
Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.
Bullet-shaped outermost bone of the thumb
Bullet-shaped distal phalanx of the thumb
A deviation from the normal straight shape of the distal phalanx of the thumb.
Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.
Osteolytic defects of the distal phalanx of the thumb
Osteolytic defects of the outermost bone of the thumb
Osteolytic defect of the distal phalanx of the thumb
An uneven increase in bone density of the distal phalanx of the thumb.
Uneven increase in bone density in the outermost bone of the thumb
Patchy sclerosis of the distal phalanx of the thumb
Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.
Triangular shaped outermost bone of the thumb
Triangular shaped distal phalanx of the thumb
Absence of the distal/terminal phalanx of the thumb.
Absence of the outermost bone of the thumb
Absent ossification/absent terminal thumb phalanx
Aplasia of the outermost bone of the thumb
Aplasia of the distal phalanx of the thumb
Hypoplastic (short) distal phalanx of the thumb.
Hypoplastic/small distal phalanx of the thumb
An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight shape of a thumb phalanx.
Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.
Osteolytic defects of the phalanges of the thumb
Osteolytic lesions are visible on radiography as demarcated areas of radiolucency ('darkness').
An uneven increase in bone density of one or more of the phalanges of the thumb.
Patchy sclerosis of the phalanges of the thumb
Uneven increase in bone density in thumb bone
Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.
Symphalangism of the distal and proximal phalanges of the thumb
Symphalangism is caused by a failure of segmentation that occurs during early fetal development.
Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.
Triangular shaped phalanges of the thumb
A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
Aplasia/Hypoplasia of the phalanges of the thumb
The absence of a phalangeal segment of a thumb.
Hypoplastic/small phalanges of the thumb
Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.
Abnormality of the end part of the outermost bone of the thumb
Abnormality of the epiphysis of the distal phalanx of the thumb
This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Abnormality of end part of thumb innermost long bone
Abnormality of the epiphysis of the proximal phalanx of the thumb
Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Absent end part of thumb innermost long bone
Absent epiphysis of the proximal phalanx of the thumb
An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of thumb innermost long bone
Bracket epiphysis of the proximal phalanx of the thumb
A cone-shaped appearance of the epiphysis of the middle phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Cone-shaped end part of thumb innermost long bone
Cone-shaped epiphysis of the proximal phalanx of the thumb
Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Enlarged end part of thumb innermost long bone
Enlarged epiphysis of the proximal phalanx of the thumb
Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.
Fragmentation of end part of thumb innermost long bone
Fragmentation of the epiphysis of the proximal phalanx of the thumb
Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Irregular end part of thumb innermost long bone
Irregular epiphysis of the proximal phalanx of the thumb
Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the innermost bone of the thumb
Ivory epiphysis of the proximal phalanx of the thumb
A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.
Pseudoepiphysis of the proximal phalanx of the thumb
Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.
Small end part of thumb innermost long bone
Small epiphysis of the proximal phalanx of the thumb
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Speckled calcifications in end part of thumb innermost long bone
Stippling of the epiphysis of the proximal phalanx of the thumb
A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Triangular end part of thumb innermost long bone
Triangular epiphysis of the proximal phalanx of the thumb
Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.
Absent end part of thumb outermost long bone
Absent epiphysis of the distal phalanx of the thumb
An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of thumb outermost long bone
Bracket epiphysis of the distal phalanx of the thumb
A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.
Cone-shaped end part of thumb outermost long bone
Cone-shaped terminal thumb phalanx epiphysis
Cone-shaped epiphysis of the distal phalanx of the thumb
Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.
Enlarged end part of thumb outermost long bone
Enlarged epiphysis of the distal phalanx of the thumb
Epiphysis of the distal phalanx of the thumb having multiple bony fragments.
Fragmentation of end part thumb outermost long bone
Fragmentation of the epiphysis of the distal phalanx of the thumb
Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.
Irregular end part of thumb outermost bone
Irregular epiphysis of the distal phalanx of the thumb
Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the outermost bone of the thumb
Ivory epiphysis of the distal phalanx of the thumb
A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.
Pseudoepiphysis of the outermost bone of the thumb
Pseudoepiphysis of the distal phalanx of the thumb
Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.
Small epiphysis of the distal phalanx of the thumb
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.
Speckled calcifications in the end part of the outermost thumb bone
Stippling of the epiphysis of the distal phalanx of the thumb
A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.
Triangular end part of thumb outermost bone
Triangular epiphysis of the outermost bone of the thumb
Triangular epiphysis of the distal phalanx of the thumb
Absence of one or more epiphyses of the thumb.
An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the thumb bone
A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.
Epiphysis of the thumb having multiple bony fragments.
Fragmentation of end part of long bone of thumb
Fragmentation of the epiphyses of the thumb
Uneven radiographic opacity of the one or more epiphyses of the thumb.
Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the thumb
A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.
Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.
Speckled calcifications in end part of thumb bone
Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.
Contracture of the distal interphalangeal joint of the fingers
An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.
Synostosis involving bones of the fingers
Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).
Synostosis involving the metacarpal bones
Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).
Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
First metacarpophalangeal joint synostosis
Symphalangism affecting the 1st metacarpal
Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.
Chronic cerebrospinal fluid lymphocytosis
Fusion involving the 2nd long bone of hand
Fusion involving the 3rd long bone of hand
Fusion involving the 4th long bone of hand
Fusion involving the 5th long bone of hand
Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).
Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.
A benign vascular tumor of the retina without any neoplastic characteristics.
The epididymis is the structure that connects efferent ductules to vas deferens.
A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.
Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis.
Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter.
Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.
A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.
Hypomelanotic macules ("ash leaf spots") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.
While hypopigmentation is a general term that refers to any form of decreased or absent skin pigmentation, hypomelanosis more specifically refers to a reduction of epidermal melanin.
The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.
Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis.
A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather.
The presence of small depressions in the dental enamel.
A lesion located beneath a fingernail or toenail.
The presence of fibromata beneath finger or toenails.
The presence of a neoplasm of the urinary bladder.
The presence of a neoplasm of the kidney.
Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina.
Punched out areas of chorioretinal hypopigmentation
A benign or malignant neoplasm (tumour) originating in striated muscle, either skeletal muscle or cardiac muscle.
A benign tumor of cardiac striated muscle.
The presence of a hamartoma of the cerebrum.
Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum.
A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).
Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas.
A glioma originating in the optic nerve or optic chiasm.
Spinal neurofibromas can affect the spinal cord or the spinal nerve roots. Spinal neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels.
Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis.
Developmental hypoplasia of the antihelix.
Nephrosclerosis refers to thickening or scarring ("sclerosis") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.
Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.
Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes.
An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.
Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.
Epidural arachnoid cysts of the spinal canal
Abnormally increased thickness of the nasal septum.
Abnormally increased hair growth in the lumbosacral region.
Increased volume of the earlobe, that is, abnormally prominent ear lobules.
All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. Lobe size increases throughout adulthood.
Complete or nearly complete soft tissue fusion of the alveolar ridges.
This finding is associated with severely reduced mobility, or lack of mobility, between the upper and lower jaws. This finding is the severe end of a spectrum that includes oral synechiae.
Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.
A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos.
A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).
A pterygium (or pterygia) in the intercrural (groin) region.
Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.
Pyramidal skinfold extending from the base to the top of the nails
Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.
Anterior schisis (cleft or cleavage) of vertebral bodies.
Excessive wrinkling of the skin of the face.
Chronic pain in the limbs with no clear focal etiology.
Columella extending inferior to the level of the nasal base, when viewed from the side.
Extension of the columella below the ala nasi
Small or missing phalangeal bones of the fingers of the hand.
Aplastic/hypoplastic phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the hand
Increased width of the phalanges of the hand.
The presence of short and wide phalanges which taper distally ("bullet shaped").
Conical bullet-shaped distal ends of phalanges
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Osteolytic defects of the phalanges of the hand
Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.
Patchy sclerosis of the phalanges of the hand
Uneven increase in bone density in finger bone
Fusion of two or more phalangeal bones of the hand.
Synostosis involving phalanges of the hand
Symphalangism affecting the phalanges of the hand
Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.
Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers.
The absence of all phalanges of all the digits of a limb and the associated soft tissues.
This descriptor does not require absence of the metacarpal or metatarsal bones. A qualifying phrase is added to specify which limb has the attribute of adactyly.
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Hypoplasia (congenital reduction in size) of the thumb.
Syndactyly with fusion of toes three and four.
Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.
A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.
Absence or underdevelopment of the biceps muscle.
Absence or underdevelopment of the triceps muscle.
Absence or underdevelopment involving the musculature of the thigh.
Aplasia/Hypoplasia of the musculature of the thigh
Absence or underdevelopment of the quadriceps muscle.
The presence of an abscess located around the anus.
A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.
Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers. They derive from embryonic pluripotent cells and may have various degrees of maturation, according to which they are classified as mature, immature, and malignant. Teratomas are found with decreasing frequency in the ovaries and testis, mediastinum, retroperitoneal space, sacrococcygeal zone, pineal and other intracranial locations.
A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).
Sacrococcygeal teratomas are thought to originate from multipotential cells in Henson's node, which migrates caudally to rest in the coccyx.
Congenital developmental defect arising from the primitive branchial apparatus.
During embryonic development the major head and neck structures are formed from the five pharyngeal arches (bands of tissue). Incomplete, failed or persistent embryonic development of these arches results in several anomalies or defects in the neck.
A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.
A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.
Branchial cyst have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.
A goiter that is not associated with functional thyroid abnormalities.
The presence of two or more accessory spleens.
Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.
Absence of one or more of the phalanges of the hand.
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
The presence of a reduced number of teeth as in Hypodontia or as in Anodontia.
Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia).
A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.
A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).
A structural abnormality of a diaphysis of the arm.
Abnormality involving the diaphyses of the upper limbs
Abnormality of shaft of long bone of the upper limbs
Diaphyseal abnormality of the upper limbs
An anomaly of one or more metaphyses of the arms.
Abnormality of the wide portion of upper limb bone
Metaphyseal abnormality of the upper limbs
Abnormality of the joints of the upper limbs
An anomaly of the joint that connects the upper and the lower arm.
Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.
Absence (due to failure to form) or underdevelopment of the extremities.
Leg shortening because of underdevelopment of one or more bones of the lower extremity.
Hypoplasia involving bones of the lower limbs
Aplasia involving bones of the lower limbs
Phocomelia affecting only the lower limbs.
Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.
Forearm shortening because of underdevelopment of one or more bones of the forearm.
Aplasia involving bones of the upper limbs
Arm shortening because of underdevelopment of one or more bones of the upper extremity.
Hypoplasia involving bones of the upper limbs
Aplasia involving bones of the extremities
Limb shortening because of underdevelopment of one or more bones of the extremities.
Hypoplasia involving bones of the extremities
Congenital absence (aplasia) of one or more limbs.
The distal parts of the limbs are missing leading to a stump formation.
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.
Any anomaly of distal phalanx of finger.
Abnormality of the distal phalanges of the hand
Abnormality of the distal phalanx of finger
Abnormality of the outermost finger bone
Abnormal distal phalanx morphology of finger
Abnormality of the middle finger bones of the hand
Abnormality of the middle phalanges of the hand
Abnormal middle phalanx morphology of the hand
Abnormality of the innermost finger bones of the hand
Abnormality of the proximal phalanges of the hand
Abnormal proximal phalanx morphology of the hand
Absence or underdevelopment of the distal phalanges.
Absent/small outermost finger bone of the hand
Absent/underdeveloped outermost finger bone of the hand
Aplasia/Hypoplasia of the distal phalanges
Hypoplastic to absent terminal phalanges
Aplasia/Hypoplasia of the distal phalanges of the hand
Abnormally wide (broad) distal phalanx of finger.
Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped outermost finger bone of the hand
Bullet-shaped distal phalanges of the hand
Curved outermost finger bone of the hand
Osteolytic defects of the outermost finger bone of the hand
Osteolytic defects of the distal phalanges of the hand
Uneven (irregular) increase in bone density of the distal phalanges of the hand.
Patchy sclerosis of the distal phalanges of the hand
Uneven increase in bone density in outermost finger bone
Patchy sclerosis of distal phalanx of finger
Absent/small middle finger bone of the hand
Absent/underdeveloped middle finger bone of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Increased width of the middle phalanx of finger.
Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle phalanges of the hand
Osteolytic defects of the middle phalanges of the hand
Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.
Patchy sclerosis of the middle phalanges of the hand
Uneven increase in bone density in the middle finger bones of the hand
Patchy sclerosis of middle phalanx of finger
Fusion of a middle phalanx of a finger with another bone.
Symphalangism of middle phalanx of finger
Triangular shaped middle finger bones of the hand
Triangular shaped middle phalanges of the hand
Absent/small innermost finger bones of the hand
Absent/underdeveloped innermost finger bones of the hand
Aplasia/Hypoplasia of the proximal phalanges of the hand
Increased width of the proximal phalanges of the finger.
Broad innermost finger bones of the hand
Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped innermost finger bones of the hand
Bullet-shaped proximal phalanges of the hand
Curved innermost finger bones of the hand
Osteolytic defects of the proximal phalanges of the hand
Uneven increase in bone density of the proximal phalanges of the hand.
Patchy sclerosis of the proximal phalanges of the hand
Uneven increase in bone density in innermost finger bone
Patchy sclerosis of proximal phalanx of finger
Symphalangism affecting the proximal phalanges of the hand
Triangular shaped proximal phalanges of the hand
Triangular shaped outermost bone of the hand
Triangular shaped distal phalanges of the hand
The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).
Cerebellar ataxia associated with quadrupedal gait
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Abnormally wide (broad) distal phalanx of finger of all fingers.
Aplasia of the distal phalanges of the hand
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Hypoplasia of the distal phalanges of the hand
This term differs from Partial absence of the finger because in that term, the phalanx must be missing, whereas in this term it may be small, but present. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. Regarding the subjective definition, for individuals who do not have flexion creases, one may determine this by flexing the DIP joint and estimating the length of the terminal segment of the digit. Alternatively, one may be able to palpate the joint.
This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Duplication of the outermost bone of hand
Partial/complete duplication of the distal phalanges of the hand
Duplication of the distal phalanx of hand
A reduction in diameter of the distal phalanx of finger towards the distal end.
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
An abnormality of hair pigmentation (color).
Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.
Abnormally increased hair growth with a localized distribution.
Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.
This feature gives the appearance of a tall forehead, and may or may not include reduction of hair in the temporal areas. This can be distinguished from male pattern baldness as the hairline is the superior boundary of the muscular forehead, which can be actively wrinkled, in contrast to the scalp where no wrinkling can occur. In addition, texture of the skin of the scalp differs from the texture of the skin over the forehead.
Flatness of the supraorbital portion of the frontal bones.
Complete absence of any auricular structures.
Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression.
The presence of telangiectasia of the ear.
Increased thickness of the external ear.
An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.
An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.
An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.
Horizontal orientation of the crus of helix
The term 'railroad track sign' has been used to describe prominent horizontal crus of the helix in combination with prominent and parallel inferior crus of the antihelix. It is preferable to simply describe each component separately.
Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.
The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.
Abnormal prominence of the crus of the ear
A unilateral absence of sensory perception of sound.
Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.
This is distinct from Stahl ear and Shell ear, with which the term has sometimes been conflated. The appearance often changes markedly after birth.
A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.
This may take the form of a sharp cleft or a less well-demarcated area. This should be distinguished from a Question-mark ear. If the defect or notch occurs at the junction of the superior and descending portions of the helix, it should be coded as Darwin notch of the helix.
Presence of nodules in the conjunctiva of the eye.
Decreased thickness of the helix of the ear.
Absence or underdevelopment of the ear lobes.
Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.
The earlobe does not have a dependent portion.
Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.
Shallow grooves or indentations are quite common, especially in large lobes. Ear lobe creases may arise postnatally. Posterior helical pits can be a related finding but should be assessed and coded separately.
An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.
This finding is characteristic of Mowat-Wilson syndrome.
Absence of the middle ear ossicles, malleus, incus, and stapes.
Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.
The tragus is the small pointed eminence of the external ear, situated in front of the concha, and projecting backward over the auditory canal.
Aplasia or developmental hypoplasia of the tragus.
Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.
The presence of a size difference between the left and right cornea.
Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.
Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris.
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.
The tunica vasculosa lentis anterior (pupillary membrane) normally undergoes atrophy in the third trimester of pregnancy. If the membrane does not completely atrophy, then remnants of membranous structures can be observed to emrge from the iris.
A malposition of the pupil owing to a developmental defect of the iris.
A tumor of the eye originating from cells of the retina.
A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.
Naevus fuscoceruleus ophthalmomaxillaris
A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction
Globe retraction and deviation on adduction
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.
Underdevelopment or absence of the nose or parts thereof.
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Epiphora or tearing is the presence of a watering eye, which is a common complaint for referrals to oculoplastics clinics for evaluation. The etiology of tearing can be divided into two categories: reflex tearing and reduced tear outflow. Reflex tearing is usually secondary to dry eye, inflammation, allergy or other ocular surface disorders, whereas primary hypersecretion of the lacrimal glands is rare. Reduced tear outflow is due to eyelid malposition, tear pump dysfunction caused by eyelid laxity, or obstruction at any portion of the nasaolacrimal drainage system.
Complete absence of all nasal structures.
The columella is the fleshy external end of the nasal septum.
Asymmetry or size difference between the left and right nostril.
The nostrils or nares are typically symmetric, wide openings. They should be assessed with the face at rest to avoid the effect of flared alae nasi that occurs with distress. Note that the nares change with age, from rounded in infancy to elongated at a later age.
The single opening may occur in the midline or it can occur on one side, that is, it can be symmetric or asymmetric. Although the columella is invariably absent, this is implicit and does not need to be separately specified.
Slender, slit-like aperture of the nostril.
Absence or underdevelopment of the nasal septum.
Lack or loss of the soft tissues between the zygomata and mandible.
Lack of symmetry between the left and right mandible.
Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Complete/partial duplication of phalanges of the thumb
A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of the phalanges of the thumb
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the phalanges of the thumb
This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Duplication of the bones of index finger
Partial/complete duplication of phalanges of the 2nd finger
Partial or complete duplication of the second proximal phalanx of hand.
Duplication of the proximal bones of the index finger
Partial/complete duplication of the proximal phalanx of the 2nd finger
Duplication of the proximal phalanx of the 2nd finger
Partial or complete duplication of the distal phalanx of index finger.
Partial/complete duplication of the distal phalanx of the 2nd finger
Partial/complete duplication of the outermost bone of the index finger
Duplication of the distal phalanx of the 2nd finger
Partial or complete duplication of the middle phalanx of index finger.
Partial/complete duplication of the middle bones of the index finger
Partial/complete duplication of the middle phalanx of the 2nd finger
Duplication of the middle phalanx of the 2nd finger
Complete duplication of the distal phalanx of index finger.
Complete duplication of the outermost bone of the index finger
Complete duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.
Bifid terminal phalanx of the 2nd finger
Notched outermost bone of the index finger
Partial duplication of the outermost bone of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger
Complete duplication of the middle phalanx of index finger.
Complete duplication of the middle bone of the index finger
Complete duplication of the middle phalanx of the 2nd finger
Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the middle bone of the index finger
Partial duplication of the middle phalanx of the 2nd finger
Complete duplication of the Second proximal phalanx of hand.
Complete duplication of the proximal bone of the index finger
Complete duplication of the proximal phalanx of the 2nd finger
Partial duplication of the Second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the proximal bones of the index finger
Partial duplication of the proximal phalanx of the 2nd finger
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the bones of the index finger
Partial duplication of the phalanges of the 2nd finger
A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of the bones of the index finger
Complete duplication of the phalanges of the 2nd finger
This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Partial/complete duplication of phalanges of the 3rd finger
A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of middle finger bones
Complete duplication of the phalanges of the 3rd finger
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of middle finger bones
Partial duplication of the phalanges of the 3rd finger
Partial or complete duplication of the distal phalanx of middle finger.
Partial/complete duplication of the distal phalanx of the 3rd finger
Partial/complete duplication of the outermost bone of the middle finger
Duplication of the distal phalanx of the 3rd finger
Partial or complete duplication of the middle phalanx of middle finger.
Duplication of the middle bone of the middle finger
Partial/complete duplication of the middle phalanx of the 3rd finger
Duplication of the middle phalanx of the 3rd finger
Partial or complete duplication of the third proximal phalanx of hand.
Duplication of the proximal bone of the middle finger
Partial/complete duplication of the proximal phalanx of the 3rd finger
Duplication of the proximal phalanx of the 3rd finger
Complete duplication of the distal phalanx of middle finger
Complete duplication of the outermost bone of the 3rd finger
Complete duplication of the distal phalanx of the 3rd finger
Complete duplication of the middle phalanx of middle finger.
Complete duplication of the middle bone of the middle finger
Complete duplication of the middle phalanx of the 3rd finger
Complete duplication of the third proximal phalanx of hand.
Complete duplication of the innermost bone of the 3rd finger
Complete duplication of the proximal phalanx of the 3rd finger
Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
Bifid terminal phalanx of the 3rd finger
Notched outermost bone of the middle finger
Partial duplication of the outermost bone of the middle finger
Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the middle bone of the 3rd finger
Partial duplication of the middle phalanx of the 3rd finger
Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the proximal bone of the middle finger
Partial duplication of the proximal phalanx of the 3rd finger
This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Partial/complete duplication of phalanges of the 4th finger
A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of the bones of the ring finger
Complete duplication of the phalanges of the 4th finger
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the bones of the ring finger
Partial duplication of the phalanges of the 4th finger
Partial or complete duplication of the distal phalanx of ring finger.
Partial/complete duplication of the distal phalanx of the 4th finger
Partial/complete duplication of the outermost bone of the ring finger
Duplication of the distal phalanx of the 4th finger
Partial or complete duplication of the middle phalanx of ring finger.
Partial/complete duplication of the middle bone of the ring finger
Partial/complete duplication of the middle phalanx of the 4th finger
Duplication of the middle phalanx of the 4th finger
Partial or complete duplication of the fourth proximal phalanx of hand.
Duplication of the proximal bone of the ring finger
Partial/complete duplication of the proximal phalanx of the 4th finger
Duplication of the proximal phalanx of the 4th finger
Complete duplication of the distal phalanx of ring finger.
Complete duplication of the outermost bone of the ring finger
Complete duplication of the distal phalanx of the 4th finger
Complete duplication of the middle phalanx of ring finger.
Complete duplication of the middle bone of the ring finger
Complete duplication of the middle phalanx of the 4th finger
Complete duplication of the fourth proximal phalanx of hand.
Complete duplication of the proximal bone of the ring finger
Complete duplication of the proximal phalanx of the 4th finger
Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.
Bifid terminal phalanx of the 4th finger
Notched outermost bone of the ring finger
Partial duplication of the outermost bone of the ring finger
Partial duplication of the distal phalanx of the 4th finger
Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the middle bone of the ring finger
Partial duplication of the middle phalanx of the 4th finger
Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the innermost bone of the ring finger
Partial duplication of the proximal phalanx of the 4th finger
This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Partial/complete duplication of little finger bone
Partial/complete duplication of phalanges of the 5th finger
Partial/complete duplication of pinkie finger bone
Partial/complete duplication of pinky finger bone
A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of the little finger bone
Complete duplication of the pinkie finger bone
Complete duplication of the pinky finger bone
Complete duplication of the phalanges of the 5th finger
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the little finger bone
Partial duplication of the pinkie finger bone
Partial duplication of the pinky finger bone
Partial duplication of the phalanges of the 5th finger
Partial or complete duplication of the distal phalanx of little finger.
Duplication of the outermost little finger bone
Duplication of the outermost pinkie finger bone
Duplication of the outermost pinky finger bone
Partial/complete duplication of the distal phalanx of the 5th finger
Duplication of the distal phalanx of the 5th finger
Partial or complete duplication of the fifth middle phalanx of hand.
Duplication of the middle little finger bone
Duplication of the middle pinkie finger bone
Duplication of the middle pinky finger bone
Partial/complete duplication of the middle phalanx of the 5th finger
Duplication of the middle phalanx of the 5th finger
Partial or complete duplication of the fifth proximal phalanx of hand.
Duplication of the innermost little finger bone
Duplication of the innermost pinkie finger bone
Duplication of the innermost pinky finger bone
Partial/complete duplication of the proximal phalanx of the 5th finger
Duplication of the proximal phalanx of the 5th finger
Complete duplication of the distal phalanx of little finger.
Complete duplication of the outermost little finger bone
Complete duplication of the outermost pinkie finger bone
Complete duplication of the outermost pinky finger bone
Complete duplication of the distal phalanx of the 5th finger
Complete duplication of the fifth middle phalanx of hand.
Complete duplication of the middle little finger bone
Complete duplication of the middle pinkie finger bone
Complete duplication of the middle pinky finger bone
Complete duplication of the middle phalanx of the 5th finger
Complete duplication of the fifth proximal phalanx of hand.
Complete duplication of the innermost little finger bone
Complete duplication of the innermost pinkie finger bone
Complete duplication of the innermost pinky finger bone
Complete duplication of the proximal phalanx of the 5th finger
Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.
Bifid terminal phalanx of the 5th finger
Partial duplication of outermost little finger bone
Partial duplication of outermost pinkie finger bone
Partial duplication of outermost pinky finger bone
Partial duplication of the distal phalanx of the 5th finger
Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the middle little finger bone
Partial duplication of the middle pinkie finger bone
Partial duplication of the middle pinky finger bone
Partial duplication of the middle phalanx of the 5th finger
Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.
Partial duplication of the innermost little finger bone
Partial duplication of the innermost pinkie finger bone
Partial duplication of the innermost pinky finger bone
Partial duplication of the proximal phalanx of the 5th finger
This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the phalanx of hand
A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.
Complete duplication of the innermost bones of the hand
Complete duplication of the proximal phalanges of the hand
A complete duplication affecting one or more of the distal phalanges of the hand.
Complete duplication of the outermost bones of the hand
As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is actually a different entity called a pseudoepiphysis (see corresponding terms), sometimes also referred to as hyperphalangism.
Complete duplication of the distal phalanges of the hand
A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.
Complete duplication of the middle bones of the hand
Complete duplication of the middle phalanges of the hand
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the innermost bones of the hand
Partial duplication of the proximal phalanges of the hand
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the outermost bone of the hand
Partial duplication of the distal phalanges of the hand
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
Partial duplication of the middle bones of hand
Partial duplication of the middle phalanges of the hand
This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Duplication of the innermost bones of hand
Partial/complete duplication of the proximal phalanges of the hand
Duplication of the proximal phalanx of hand
This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.
Partial/complete duplication of the middle phalanges of the hand
Duplication of the middle phalanx of hand
A structural anomaly of the first metacarpal.
Abnormality of the 1st long bone of hand
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits.
Any abnormality of the second metacarpal bone.
Abnormality of the 2nd long bone of hand
Any abnormality of the third metacarpal bone.
Abnormality of the 3rd long bone of hand
Any abnormality of the fourth metacarpal bone.
Abnormality of the 4th long bone of hand
Any abnormality of the fifth metacarpal bone.
Abnormality of the 5th long bone of hand
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.
Abnormality of the end part of the 1st long bone of hand
Abnormality of the epiphysis of the 1st metacarpal
Absent end part of the 1st long bone of hand
An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.
Bracket shaped end part of 1st long bone of hand
A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.
Cone-shaped end part of the 1st long bone of hand
Cone-shaped epiphysis of the 1st metacarpal
Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.
Enlarged end part of the 1st long bone of hand
Enlarged epiphysis of the 1st metacarpal
Epiphysis of the 1st metacarpal having multiple bony fragments.
Fragmentation of the end part of the 1st long bone of hand
Fragmentation of the epiphysis of the 1st metacarpal
Uneven radiographic opacity of the epiphysis of the 1st metacarpal.
Irregular end part of the 1st long bone of hand
Irregular epiphysis of the 1st metacarpal
The epiphysis of the 1st metacarpal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the 1st long bone of hand
The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.
This feature can be seen for example in Holt-Oram Syndrome.
Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.
Small end part of the 1st long bone of hand
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.
Speckled calcifications in the end part of the first long bone of hand
Stippling of the epiphysis of the 1st metacarpal
Epiphyseal stippling of the first metacarpal
Triangular end part of the 1st long bone of hand
Triangular epiphysis of the 1st metacarpal
Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
Absent/underdeveloped 1st long bone of hand
Aplasia/Hypoplasia of the 1st metacarpal
Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
The presence of short and wide 1st metacarpal which tapers distally ("bullet shaped").
A deviation from the normal straight shape of the first metacarpal.
Dissolution or degeneration of bone tissue of the 1st metacarpal.
Osteolytic defects of the 1st metacarpal
Uneven increase in bone density within the 1st metacarpal.
Uneven increase in bone density in 1st long bone of hand
This term applies to a triangular shaped 1st metacarpal.
In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx (in this case metacarpal, see explanation above).
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Absent first metacarpal (long bone) of the hand.
Aplasia or Hypoplasia affecting the 2nd metacarpal.
Absent/underdeveloped 2nd long bone of hand
Aplasia/Hypoplasia of the 2nd metacarpal
Absence of the second long bone of the hand.
Short second metacarpal bone because of developmental hypoplasia.
Aplasia or Hypoplasia affecting the 3rd metacarpal.
Absent/underdeveloped 3rd long bone of hand
Aplasia/Hypoplasia of the 3rd metacarpal
Absence of the third long bone of the hand.
Aplasia or Hypoplasia affecting the 4th metacarpal.
Absent/underdeveloped 4th long bone of hand
Aplasia/Hypoplasia of the 4th metacarpal
Absence of the fourth long bone of the hand.
Aplasia or Hypoplasia affecting the 5th metacarpal.
Absent/underdeveloped 5th long bone of hand
Aplasia/Hypoplasia of the 5th metacarpal
Absence of the fifth long bone of the hand.
Developmental defect associated with absence of one or more metacarpal bones.
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metacarpals can involve any of the metacarpal bones, and the affected ray should be specified. The assessment of isolated short metacarpal can be made by viewing the dorsum of the hand when clenched. Note that if metacarpals F2-5 are affected, the correct term is Short palm.
Displacement of the big toe from its normal position.
An abnormal shape or form of the proximal phalanx of the big toe.
Abnormality of the proximal phalanx of the hallux
In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the big toe is embryologically equivalent to the middle phalanges of the other digits, whereas the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.
Abnormal morphology of the proximal phalanx of the hallux
Abnormality of the outermost bone of the big toe
Abnormality of the distal phalanx of the hallux
An anomaly of the first metatarsal bone.
Abnormality of the 1st long bone of foot
In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the first metatarsal.
Abnormality of the first metatarsal bone
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Note that girth may be increased in a broad hallux, but this must be distinguished from Macrodactyly because there the length is also increased. This assessment may be difficult when the hallux is short.
Abnormality of the end part of the big toe bone
Abnormality of the epiphyses of the hallux
Abnormality of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux
An increase in width in one or more phalanges of the big toe.
An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more phalanges of the big toe.
Osteolytic defects of the phalanges of the hallux
Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the phalanges of the hallux
Uneven increase in bone density in big toe bone
Symphalangism affecting the phalanges of the hallux
Triangular shaped phalanges of the hallux
Partial or complete duplication of one or more phalanx of big toe.
Partial/complete duplication of the phalanges of the hallux
Absence or underdevelopment of the first metatarsal bone.
Absent/underdeveloped 1st long bone of foot
Aplasia/hypoplasia of the 1st metatarsal
Increased side-to-side width of the first metatarsal bone.
An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.
A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.
Dissolution or degeneration of bone tissue of the first metatarsal.
Osteolytic defects of the 1st metatarsal
Uneven increase in bone density of the 1st long bone of foot
Fusion involving the 1st long bone of foot
A developmental defect consisting in the duplication of the first metatarsal bone.
Absent/underdeveloped outermost big toe bone
Aplasia/Hypoplasia of the distal phalanx of the hallux
An increase in width of the distal phalanx of the big toe.
An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped distal phalanx of the hallux
A deviation from the normal straight form of the distal phalanx of the big toe.
Osteolytic defects of the distal phalanx of the hallux
Uneven increase in bone density in the outermost bone of big toe
Patchy sclerosis of the distal phalanx of the hallux
Symphalangism affecting the distal phalanx of the hallux
Triangular shaped outermost bone of the big toe
Triangular shaped distal phalanx of the hallux
Duplication of the outermost bone of big toe
Partial/complete duplication of the distal phalanx of the hallux
Duplication of the distal phalanx of the hallux
Absent/underdeveloped innermost big toe bone
Aplasia/Hypoplasia of the proximal phalanx of the hallux
Increased width of proximal phalanx of big toe.
An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped innermost bone of the big toe
Bullet-shaped proximal phalanx of the hallux
A deviation from the normal straight form of the proximal phalanx of the big toe.
Osteolytic defects of the proximal phalanx of the hallux
Uneven increase in bone density in the innermost bone of the big toe
Patchy sclerosis of the proximal phalanx of the hallux
Symphalangism affecting the proximal phalanx of the hallux
Triangular shaped innermost bone of big toe
Triangular shaped proximal phalanx of the hallux
Partial or complete duplication of the proximal phalanx of big toe.
Duplication of the innermost bone of big toe
Duplication of the proximal phalanx of the hallux
Complete duplication of the proximal phalanx of big toe.
Complete duplication of the innermost bone of big toe
Complete duplication of the proximal phalanx of the hallux
Partial duplication of the proximal phalanx of big toe.
Partial duplication of the innermost bone of big toe
Partial duplication of the proximal phalanx of the hallux
Complete duplication of the outermost bone of the big toe
Complete duplication of the distal phalanx of the hallux
Partial duplication of the outermost bone of big toe
Partial duplication of the distal phalanx of the hallux
A developmental defect consisting in the complete duplication of the first metatarsal bone.
Complete duplication of the 1st long bone of foot
Complete duplication of the 1st metatarsal
A developmental defect consisting in the duplication of part of the first metatarsal bone.
Partial duplication of the 1st long bone of foot
Partial duplication of the 1st metatarsal
Complete duplication of one or more phalanx of big toe.
Complete duplication of the phalanges of the hallux
Partial duplication of the phalanges of the hallux
Aplasia of the distal phalanx of the hallux
Underdevelopment (hypoplasia) of the distal phalanx of big toe.
Hypoplastic/small distal phalanx of the hallux
A developmental defect characterized by the absence of the first metatarsal bone.
Aplasia of the proximal phalanx of the hallux
Underdevelopment (hypoplasia) of the proximal phalanx of big toe.
Hypoplastic proximal phalanx of the hallux
Underdevelopment (hypoplasia) of the big toe.
Underdevelopment (hypoplasia) of a phalanx of big toe.
The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.
Failure to form (agenesis) of one or more epiphyses of the big toe.
Cone-shaped end part of the big toe bone
Fragmentation of the end part of the big toe bone
Fragmentation of the epiphyses of the hallux
Increased bone density of end part of the big toe bone
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.
Speckled calcifications in the end part of the big toe bone
Stippling of the epiphyses of the hallux
Abnormality of the end part of the outermost bone of the big toe bone
Abnormality of the epiphysis of the distal phalanx of the hallux
In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.
Abnormality of the end part of the 1st long bone of foot
Abnormality of the epiphysis of the 1st metatarsal
In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.
Abnormality of the end part of the innermost bone of the big toe
Abnormality of the epiphysis of the proximal phalanx of the hallux
Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.
Absent end part of the innermost bone of the big toe
Absent epiphysis of the proximal phalanx of the hallux
The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.
Bracket shaped end part of the innermost bone of big toe
Bracket epiphysis of the proximal phalanx of the hallux
Cone-shaped end part of the innermost bone of the big toe
Cone-shaped epiphysis of the proximal phalanx of the hallux
Enlarged end part of the innermost bone of the big toe
Enlarged epiphysis of the proximal phalanx of the hallux
Fragmentation of the end part of the innermost bone of the big toe
Fragmentation of the epiphysis of the proximal phalanx of the hallux
Irregular end part of the innermost bone of the big toe
Irregular epiphysis of the proximal phalanx of the hallux
Increased bone density of end part of the innermost bone of the big toe
Ivory epiphysis of the proximal phalanx of the hallux
Pseudoepiphysis of the proximal phalanx of the hallux
Small end part of the innermost bone of the big toe
Small epiphysis of the proximal phalanx of the hallux
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.
Speckled calcifications in the end part of the innermost bone of the big toe
Stippling of the epiphysis of the proximal phalanx of the hallux
Triangular end part of the innermost bone of the big toe
Triangular epiphysis of the proximal phalanx of the hallux
Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.
Absent end part of the outermost bone of the big toe
Absent epiphysis of the distal phalanx of the hallux
The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.
Bracket shaped end part of the outermost bone of big toe
Bracket epiphysis of the distal phalanx of the hallux
Cone-shaped end part of the outermost bone of the big toe
Cone-shaped epiphysis of the distal phalanx of the hallux
Enlarged end part of the outermost bone of the big toe
Enlarged epiphysis of the distal phalanx of the hallux
Fragmentation of the end part of the outermost bone of the big toe
Fragmentation of the epiphysis of the distal phalanx of the hallux
Irregular end part of the outermost bone of the big toe
Irregular epiphysis of the distal phalanx of the hallux
Increased bone density of end part of the outermost bone of the big toe
Ivory epiphysis of the distal phalanx of the hallux
Pseudoepiphysis of the distal phalanx of the hallux
Small end part of the outermost bone of the big toe
Small epiphysis of the distal phalanx of the hallux
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.
Speckled calcifications in the end part of the outermost bone of the big toe
Stippling of the epiphysis of the distal phalanx of the hallux
Triangular end part of the outermost bone of the big toe
Triangular epiphysis of the distal phalanx of the hallux
Failure to form (agenesis) of the epiphysis of the 1st metatarsal.
Absent end part of the 1st long bone of foot
The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.
Bracket shaped end part of 1st long bone of foot
A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.
Cone-shaped end part of the 1st long bone of foot
Cone-shaped epiphysis of the 1st metatarsal
Enlarged end part of the 1st long bone of foot
Enlarged epiphysis of the 1st metatarsal
Fragmentation of the end part of the 1st long bone of foot
Fragmentation of the epiphysis of the 1st metatarsal
Irregular end part of the 1st long bone of foot
Irregular epiphysis of the 1st metatarsal
The epiphysis of the 1st metatarsal are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the 1st long bone of foot
Small end part of the 1st long bone of foot
Speckled calcifications in the end part of the 1st long bone of foot
Stippling of the epiphysis of the 1st metatarsal
Triangular end part of the 1st long bone of foot
Triangular epiphysis of the 1st metatarsal
Abnormality of the end part of the toe bones
Abnormality of the epiphyses of the toes
Abnormality of the long bones of the toes
Abnormality of the phalanges of the toes
Absence of the epiphyses of the phalanges of the toes.
Bracket shaped end part of the toe bones
Fragmentation of the end part of the toe bones
Fragmentation of the epiphyses of the toes
Increased bone density of end part of the toes
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.
Speckled calcifications in long toe bones
Aplasia/Hypoplasia of the phalanges of the toes
Increased width of phalanx of one or more toes.
An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more toe phalanges.
Osteolytic defects of the phalanges of the toes
Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.
Patchy sclerosis of the phalanges of the toes
Uneven increase in bone density in toe bone
Symphalangism affecting the phalanges of the toes
Partial/complete duplication of one or more phalanx of toe.
Partial/complete duplication of the phalanges of the toes
Abnormality of the outermost bone of the toes
Abnormality of the distal phalanges of the toes
Abnormality of the middle phalanges of the toes
A morphological anomaly of one or more proximal phalanges of one or more toes.
Abnormality of the proximal phalanges of the toes
Absence or underdevelopment of the distal phalanges of the toes.
Absent/hypoplastic terminal phalanges of toes
Absent/underdeveloped outermost bones of toe
Hypoplasia/agenesis of distal phalanges of toes
Aplasia/Hypoplasia of the distal phalanges of the toes
Increased width of the distal phalanx of toe of one or more toes.
An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped distal phalanges of the toes
A deviation from the normal straight form of one or more distal toe phalanges.
Osteolytic defects of the distal phalanges of the toes
Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the distal phalanges of the toes
Uneven increase in bone density in outermost toe bone
Symphalangism affecting the distal phalanges of the toes
Triangular shaped outermost bone of the toes
Triangular shaped distal phalanges of the toes
A partial or complete duplication of one or more distal phalanx of toe.
Partial/complete duplication of the distal phalanges of the toes
Absent/underdeveloped middle bones of toe
Aplasia/Hypoplasia of the middle phalanges of the toes
An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle phalanges of the toes
A deviation from the normal straight form of one or more middle toe phalanges.
Osteolytic defects of the middle phalanges of the toes
Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the middle phalanges of the toes
Uneven increase in bone density in middle toe bone
Symphalangism affecting the middle phalanges of the toes
Triangular shaped middle phalanges of the toes
Partial or complete duplication of a middle phalanx of toe.
Partial/complete duplication of the middle bones of the toes
Partial/complete duplication of the middle phalanges of the toes
Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the toes.
Absent/underdeveloped innermost toe bones
Aplasia/Hypoplasia of the proximal phalanges of the toes
Aplasia/hypoplasia of proximal toe phalanx
An increase in width of one ore more proximal toe phalanges.
An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped proximal phalanges of the toes
A deviation from the normal straight shape of a proximal phalanx of one or more toes.
Dissolution or degeneration of bone tissue of the proximal toe phalanx.
Osteolytic defects of the proximal phalanges of the toes
Osteolytic defect of the proximal toe phalanx
Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the proximal phalanges of the toes
Uneven increase in bone density in innermost toe bone
Patchy sclerosis of proximal toe phalanx
Symphalangism affecting the proximal phalanges of the toes
Triangular shaped proximal phalanges of the toes
Partial/complete duplication of a proximal phalanx of toe.
Partial/complete duplication of the proximal phalanges of the toes
One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.
Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.
Contracture of the tarsometatarsal joint of the hallux
The interphalangeal joint of the big toe cannot be straightened actively or passively.
Contracture of the interphalangeal joint of the hallux
The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.
Contractures of the metatarsophalangeal joint of the hallux
A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.
Any abnormality of the epiphysis of the second metacarpal bone.
Abnormality of the end part of the 2nd long bone of hand
Abnormality of the epiphysis of the 2nd metacarpal
The normal epiphysis of the second metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
Any abnormality of the epiphysis of the third metacarpal bone.
Abnormality of the end part of the 3rd long bone of hand
Abnormality of the epiphysis of the 3rd metacarpal
The normal epiphysis of the third metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
Any abnormality of the epiphysis of the 4th metacarpal bone.
Abnormality of the end part of the 4th long bone of hand
Abnormality of the epiphysis of the 4th metacarpal
The normal epiphysis of the fourth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
Any abnormality of the epiphysis of the fifth metacarpal bone.
Abnormality of the end part of the long bone of little finger
Abnormality of the end part of the long bone of pinkie finger
Abnormality of the end part of the long bone of pinky finger
Abnormality of the epiphysis of the 5th metacarpal
The normal epiphysis of the fifth metacarpal is localised at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.
Absence of one or more epiphyses of the phalanges fingers.
Absent epiphyses of the phalanges of the hand
Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket epiphyses of the phalanges of the hand
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Cone-shaped epiphyses of the phalanges of the hand
Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.
Enlarged epiphyses of the phalanges of the hand
Fragmented appearance of the epiphyses of the phalanges of the fingers.
Fragmentation of end part of finger bones
Fragmentation of the epiphyses of the fingers
Fragmentation of the epiphyses of the phalanges of the hand
Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.
Irregular epiphyses of the phalanges of the hand
Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density of end part of the hand bones
Ivory epiphyses of the phalanges of the hand
A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of the phalanges of the hand
Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.
Small epiphyses of the phalanges of the hand
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.
Speckled calcifications in end part of finger bones
Stippling of the epiphyses of the fingers
Stippling of the epiphyses of the phalanges of the hand
Epiphyseal stippling of finger phalanges
A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.
Triangular epiphyses of the phalanges of the hand
Absence of one or more middle phalanx of a finger.
Aplasia of the middle phalanx of the hand
Congenital hypoplasia of one or more proximal phalanx of finger.
Hypoplasia of the proximal phalanges of the hand
Aplasia of the proximal phalanges of the hand
Any anomaly of distal epiphysis of phalanx of finger.
Abnormality of the end part of the outermost bone of finger
Abnormality of the epiphyses of the distal phalanx of finger
Abnormality of the end part of the middle hand bones
Abnormality of the epiphyses of the middle phalanges of the hand
Abnormality of the end part of the innermost hand bones
Abnormality of the epiphyses of the proximal phalanges of the hand
Absent end part of the outermost hand bones
Absent epiphyses of the distal phalanges of the hand
An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the outermost hand bones
Bracket epiphyses of the distal phalanges of the hand
Cone-shaped end part of the outermost hand bones
Cone-shaped epiphyses of the distal phalanges of the hand
Enlarged end part of the outermost hand bones
Enlarged epiphyses of the distal phalanges of the hand
Fragmentation of the end part of the outermost hand bones
Fragmentation of the epiphyses of the distal phalanges of the hand
Irregular end part of the outermost hand bones
Irregular epiphyses of the distal phalanges of the hand
Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the outermost hand bones
Ivory epiphyses of the distal phalanges of the hand
A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of the distal phalanges of the hand
Small end part of the outermost hand bones
Small epiphyses of the distal phalanges of the hand
Speckled calcifications in the end part of the outermost hand bones
Stippling of the epiphyses of the distal phalanges of the hand
Triangular end part of the outermost hand bones
Triangular epiphyses of the distal phalanges of the hand
Absent end part of the middle hand bones
Absent epiphyses of the middle phalanges of the hand
An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the middle hand bones
Bracket epiphyses of the middle phalanges of the hand
Cone-shaped end part of the middle hand bones
Cone-shaped epiphyses of middle phalanges
Cone-shaped epiphyses of the middle phalanges of the hand
Enlarged end part of the middle hand bones
Enlarged epiphyses of the middle phalanges of the hand
Fragmented appearance of the epiphyses of the middle phalanges of the hand.
Fragmentation of the end part of the middle hand bones
Fragmentation of the epiphyses of the middle phalanges of the hand
Irregular epiphyses of the middle phalanges of the hand
Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the middle hand bones
Ivory epiphyses of the middle phalanges of the hand
A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of the middle phalanges of the hand
Small epiphyses of the middle phalanges of the hand
Speckled calcifications in the end part of the middle hand bones
Stippling of the epiphyses of the middle phalanges of the hand
Triangular end part of the middle hand bones
Triangular epiphyses of the middle phalanges of the hand
Absent end part of the innermost hand bones
Absent epiphyses of the proximal phalanges of the hand
An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.
Bracket shaped end part of the innermost hand bones
Bracket epiphyses of the proximal phalanges of the hand
Cone-shaped end part of the innermost hand bones
Cone-shaped epiphyses of the proximal phalanges of the hand
Enlarged end part of the innermost hand bones
Enlarged epiphyses of the proximal phalanges of the hand
Fragmentation of the end part of the innermost hand bones
Fragmentation of the epiphyses of the proximal phalanges of the hand
Irregular end part of the innermost hand bones
Irregular epiphyses of the proximal phalanges of the hand
Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the innermost hand bones
Ivory epiphyses of the proximal phalanges of the hand
A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.
Pseudoepiphyses of the proximal phalanges of the hand
Small end part of the innermost hand bones
Small epiphyses of the proximal phalanges of the hand
Speckled calcifications in the end part of the innermost hand bones
Stippling of the epiphyses of the proximal phalanges of the hand
Triangular end part of the innermost hand bones
Triangular epiphyses of the proximal phalanges of the hand
Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).
Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The height of the vermilion of the lower lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. If the lower lip vermilion is thin, the inferior border of the vermilion is less curved, and on a profile view, the lower lip vermilion is less convex than usual.
Increased pigmentation, either focal or generalized, of the mucosa of the mouth.
Pigmentation of alveolar ridges is common in people with dark skin pigmentation. This term encompasses a range of pigmentary findings, from freckles to generalized hyperpigmentation.
Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.
These bands must be distinguished from synechiaee between the tongue and palate (glossopalatal ankylosis) and from synechiae arising from the floor of the mouth (as in the subglossopalatal membrane), oropharyngeal isthmus (as in persistent buccopharyngeal membrane) or from the lower lip. If there is a complete soft tissue contiguity between the upper and lower alveolar ridges, the term, Fibrous syngnathia should be used instead.
Any abnormality of the salivary glands, the exocrine glands that produce saliva.
Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.
Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.
A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth.
Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).
Objective measurement of the hard palate requires special instrumentation [Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers]. A short hard palate may be associated with velopharyngeal incompetence.
Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.
Soft tissue folds are typically present on the lateral sides of the palate, especially anteriorly.
Sometimes accompanies a Submucous cleft palate, but this should be coded separately.
Underdevelopment or absence of the uvula.
A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.
Absence or underdevelopment of the tongue.
Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.
The anterior third of the tongue is usually free or is partially attached to the floor of the mouth by the lingual frenulum. There is a spectrum ranging from fusion of the tongue to the floor of the mouth (ankyloglossia inferiorum) to a lingual frenulum that is short or anchored toward the tip of the tongue (sometimes called tongue tie). Ankyloglossia may be associated with a mild indentation of the tip of the tongue, which should not be coded as a Bifid tongue.
Tongue with a median apical indentation or fork.
Bifid tongue can be associated with ankyloglossia, but this should be assessed and coded separately. Small indentations of the tip of the tongue should not be coded as a bifid tongue.
Glossy appearance of the entire tongue surface.
This is due to reduction in number and/or size of the filiform papillae. A geographic tongue has localized areas of smoothening, but not sufficient to warrant use of the term Smooth tongue.
Dentin is a calcified tissue of teeth that is covered by enamel on the crown and cementum on the root and surrounds the entire pulp.
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Incomplete closure of the vertebral arch
Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta.
Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.
Reduced inferior to superior extent of the thorax.
Shorter than typical length between neck and abdomen
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract.
The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.
Various degrees of bifid sternum may occur, varying from an enlarged suprasternal notch to complete separation of the two halves of the sternum. Ectopia cordis may or may not accompany this defect in its more severe form.
Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.
Absence or underdevelopment of the breasts.
The presence of hypertrophy of the breast.
Absence or underdevelopment of the diaphragm.
Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
Ebstein's anomaly of the tricuspid valve
Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias.
Absence or underdevelopment of the abdominal musculature.
Absent/underdeveloped abdominal wall muscles
Aplasia/Hypoplasia of the abdominal wall musculature
Abnormality of the end part of the 2nd toe bone
Abnormality of the epiphyses of the 2nd toe
One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.
Abnormality of the end part of the 3rd toe bone
Abnormality of the epiphyses of the 3rd toe
Abnormality of the phalanges of the 3rd toe
One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.
Abnormality of the end part of the 4th toe bone
Abnormality of the epiphyses of the 4th toe
Abnormality of the phalanges of the 4th toe
One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.
Abnormality of the end part of the little toe bone
Abnormality of the end part of the pinkie toe bone
Abnormality of the end part of the pinky toe bone
Abnormality of the epiphyses of the 5th toe
Abnormality of the phalanges of the 5th toe
One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.
Aplasia/Hypoplasia of the phalanges of the 2nd toe
An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more phalanges of the second toe.
Osteolytic defects of the phalanges of the 2nd toe
Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the phalanges of the 2nd toe
Uneven increase in bone density in 2nd toe bone
Fusion of the interphalangeal joints of the 2nd toe.
Symphalangism affecting the phalanges of the 2nd toe
Triangular shaped phalanges of the 2nd toe
Partial or complete duplication of a phalanx of second toe.
Partial/complete duplication of the phalanges of the 2nd toe
Duplication of the phalanges of the 2nd toe
Abnormality of the outermost bone of the 2nd toe
Abnormality of the distal phalanx of the 2nd toe
Abnormality of the middle bone of the 2nd toe
Abnormality of the middle phalanx of the 2nd toe
Abnormality of the innermost bone of the 2nd toe
Abnormality of the proximal phalanx of the 2nd toe
Aplasia/Hypoplasia of the phalanges of the 3rd toe
An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more phalanges of the third toe.
Osteolytic defects of the phalanges of the 3rd toe
Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the phalanges of the 3rd toe
Uneven increase in bone density in 3rd toe bone
Symphalangism affecting the phalanges of the 3rd toe
Triangular shaped phalanges of the 3rd toe
Partial or complete duplication of phalanx of third toe.
Partial/complete duplication of the phalanges of the 3rd toe
Abnormality of the outermost bone of the 3rd toe
Abnormality of the distal phalanx of the 3rd toe
Abnormality of the middle bone of 3rd toe
Abnormality of the middle phalanx of the 3rd toe
An anomaly of the proximal phalanx of third toe.
Abnormality of the innermost bone of 3rd toe
Abnormality of the proximal phalanx of the 3rd toe
Aplasia/Hypoplasia of the phalanges of the 4th toe
An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more phalanges of the fourth toe.
Osteolytic defects of the phalanges of the 4th toe
Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the phalanges of the 4th toe
Uneven increase in bone density in 4th toe bone
Symphalangism affecting the phalanges of the 4th toe
Triangular shaped phalanges of the 4th toe
Partial or complete duplication of phalanx of fourth toe.
Duplication of phalanx of the fourth toe
Partial/complete duplication of the phalanges of the 4th toe
Abnormality of the outermost 4th toe bone
Abnormality of the distal phalanx of the 4th toe
Abnormality of the middle phalanx of the 4th toe
Abnormality of the proximal phalanx of the 4th toe
Aplasia/Hypoplasia of the phalanges of the 5th toe
An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
A deviation from the normal straight form of one or more phalanges of the fifth toe.
Osteolytic defects of the phalanges of the 5th toe
Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy sclerosis of the phalanges of the 5th toe
Uneven increase in bone density in little toe bone
Uneven increase in bone density in pinkie toe bone
Uneven increase in bone density in pinky toe bone
Symphalangism affecting the phalanges of the 5th toe
Triangular shaped phalanges of the 5th toe
Partial or complete duplication of one or more phalanx of little toe.
Duplication of the bones of the little toe
Duplication of the bones of the pinkie toe
Duplication of the bones of the pinky toe
Duplication of the phalanges of the fifth toe
Partial/complete duplication of the phalanges of the 5th toe
Duplication of the phalanges of the 5th toe
Abnormality of the outermost bone of the little toe
Abnormality of the outermost bone of the pinkie toe
Abnormality of the outermost bone of the pinky toe
Abnormality of the distal phalanx of the 5th toe
Abnormality of the middle bone of the little toe
Abnormality of the middle bone of the pinkie toe
Abnormality of the middle bone of the pinky toe
Abnormality of the middle phalanx of the 5th toe
Abnormality of the innermost bone of the little toe
Abnormality of the innermost bone of the pinkie toe
Abnormality of the innermost bone of the pinky toe
Abnormality of the proximal phalanx of the 5th toe
Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 2nd toe.
Absent/underdeveloped innermost 2nd toe bone
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped proximal phalanx of the 2nd toe
A deviation from the normal straight form of the proximal phalanx of the 2nd toe.
Osteolytic defects of the proximal phalanx of the 2nd toe
Uneven increase in bone density in the innermost bone of the 2nd toe
Patchy sclerosis of the proximal phalanx of the 2nd toe
Symphalangism affecting the proximal phalanx of the 2nd toe
Triangular shaped innermost 2nd toe bone
Triangular shaped proximal phalanx of the 2nd toe
Partial or complete duplication of proximal phalanx of second toe.
Duplication of the proximal phalanx of the second toe
Partial/complete duplication of the proximal phalanx of the 2nd toe
Duplication of the proximal phalanx of the 2nd toe
Absent/underdeveloped middle bone of 2nd toe
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle phalanx of the 2nd toe
A deviation from the normal straight form of the middle phalanx of the 2nd toe.
Osteolytic defects of the middle phalanx of the 2nd toe
Uneven increase in bone density in the middle bone of the 2nd toe
Patchy sclerosis of the middle phalanx of the 2nd toe
Symphalangism affecting the middle phalanx of the 2nd toe
Triangular shaped middle bone of 2nd toe
Triangular shaped middle phalanx of the 2nd toe
Partial or complete duplication of middle phalanx of second toe.
Partial/complete duplication of the middle phalanx of the 2nd toe
Duplication of the middle phalanx of the 2nd toe
Absent/underdeveloped outermost 2nd toe bone
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped outermost bone of the 2nd toe
Bullet-shaped distal phalanx of the 2nd toe
A deviation from the normal straight form of the distal phalanx of the 2nd toe.
Osteolytic defects of the distal phalanx of the 2nd toe
Uneven increase in bone density in the outermost bone of the 2nd toe
Patchy sclerosis of the distal phalanx of the 2nd toe
Symphalangism affecting the distal phalanx of the 2nd toe
Triangular shaped outermost 2nd toe bone
Triangular shaped distal phalanx of the 2nd toe
Partial or complete duplication of the distal phalanx of second toe.
Duplication of the outermost bone of the 2nd toe
Partial/complete duplication of the distal phalanx of the 2nd toe
Duplication of the distal phalanx of the 2nd toe
Complete duplication of proximal phalanx of second toe.
Complete duplication of the innermost 2nd toe bone
Complete duplication of the proximal phalanx of the second toe
Complete duplication of the proximal phalanx of the 2nd toe
Partial duplication of proximal phalanx of second toe.
Partial duplication of the innermost 2nd toe bone
Partial duplication of the proximal phalanx of the second toe
Partial duplication of the proximal phalanx of the 2nd toe
Complete duplication of the distal phalanx of second toe.
Complete duplication of the outermost bone of the 2nd toe
Complete duplication of the distal phalanx of the 2nd toe
Partial duplication of the distal phalanx of second toe.
Partial duplication of the outermost bone of the 2nd toe
Partial duplication of the distal phalanx of the 2nd toe
Complete duplication of middle phalanx of second toe.
Complete duplication of the middle bone of the 2nd toe
Complete duplication of the middle phalanx of the 2nd toe
Partial duplication of middle phalanx of second toe.
Partial duplication of the middle bone of the 2nd toe
Partial duplication of the middle phalanx of the 2nd toe
Partial duplication of a phalanx of second toe.
Partial duplication of phalanx of the 2nd toe
Complete duplication of a phalanx of second toe.
Complete duplication of the 2nd toe bones
Complete duplication of the phalanges of the 2nd toe
Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.
Hypoplastic/small phalanges of the 2nd toe
Absence of distal phalanx of the second toe as a result of developmental aplasia.
Aplasia of the distal phalanx of the 2nd toe
Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.
Hypoplastic/small distal phalanx of the 2nd toe
Aplasia of the middle phalanx of the 2nd toe
Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.
Hypoplastic/small middle phalanx of the 2nd toe
Aplasia of the proximal phalanx of the 2nd toe
Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.
Hypoplastic/small proximal phalanx of the 2nd toe
Short proximal phalanx of the second toe
A structural abnormality of the interventricular septum.
Abnormal interventricular septum morphology
In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).
In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
More than five fingers or toes on hands or feet
A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.
The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.
An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.
A narrowing of the orifice of the tricuspid valve of the heart.
Tricuspid stenosis results in characteristic changes in the jugular venous pulse in the form of leisurely V to Y descent and prominent a-waves. The liver is enlarged with a firm edge and is pulsatile in presystole. This is best appreciated with one hand on the liver edge and one on the precordium. Auscultation reveals a low- to medium-pitched diastolic rumble with inspiratory accentuation. This is usually localized to the lower sternal border.
An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.
A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.
An abnormal narrowing of the lumen of the esophagus.
Absence or underdevelopment of the spleen.
An abnormal (non-anatomic) location of the spleen.
Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.
The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.
An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.
An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Abnormality of the greater sacrosciatic notch
Abnormally increased width of the greater sacrosciatic notch.
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.
The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.
Abnormality of the female genital system.
Abnormality of the female internal or external genitalia.
Aplasia or developmental hypoplasia of the ovary.
Aplasia, that is failure to develop, of the ovary.
A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.
The onset of puberty before the age of 8 years in girls.
Absence or underdevelopment of the testes.
Testis not palpable in the scrotum or inguinal canal.
Absence can be congenital or not (vanishing testis). Definitive assessment can only be made by imaging or surgical studies, in order to exclude an intra-abdominal testis, which should be coded as Cryptorchidism. True absence of a testis can be difficult to prove. Anorchia is true absence of both testes, and can only be determined by imaging or surgical studies.
Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.
An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.
Abnormal circulating porphyrin concentration
Abnormally increased excretion of porphyrins in the urine.
Porphyrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. One of the best-known porphyrins is heme.
Buildups of minerals that form in the urinary bladder.
Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.
Absence or underdevelopment of the urinary bladder.
Aplasia (absence) of the urinary bladder.
The urachus is a vestigial embryonic structure, a canal that connects the urinary bladder of the fetus with the allantois (a structure involved in the development of the umbilical cord). During embryonic development, the lumen of the urachus is normally obliterated, transforming the urachus into a solid cord.
Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.
The presence of an abnormal connection between the urethra and another organ or the skin.
The presence of an abnormal membrane obstructing the urethra.
Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.
Amniotic constriction rings affecting the arms.
Abnormal increase in size of the upper limbs (due to an increase of the size of cells).
The ability of the elbow joint to move beyond its normal range of motion.
An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).
Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.
Absence or underdevelopment of the palmar creases.
Aplasia/Hypoplasia of the palmar creases
The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).
An abnormality of the creases of the skin of palm of hand.
A narrow segment of significantly reduced circumference of a digit.
The description should specify the hand and digit that is affected and the approximate location of the band relative to the phalanges. It may be described as partial, if it does not involve the entire circumference of the digit.
Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism".
An abnormally increased length of the metacarpal bones.
Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.
Amniotic constriction rings affecting the legs.
Abnormal increase in size of the lower limbs (due to an increase of the size of cells).
A developmental defect in which the legs are fused together.
A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.
The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.
The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).
An abnormal limitation of knee joint mobility.
A bending or abnormal curvature of the fibula.
A developmental defect with posteromedial fibular angulation.
Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.
An abnormal increase in the length of the tibia.
An abnormal limitation of the mobility of the ankle joint.
An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.
A difference in size or shape between the left and right foot.
A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.
An ability of the toe joints to move beyond their normal range of motion.
Digits that appear disproportionately long compared to the foot.
This finding must be distinguished from digits that are thin but of normal length and that of a short mid and hind foot with normal digit lengths. The affected digits should be specified. If only a subset of the digits of a limb is lengthened, the affected digits should be specified.
Calcification within the adrenal glands.
This condition may occur in a wide variety of pathologies, some serious and some with no obvious consequence. Adrenal hemorrhage may be detected as an incidental finding in children in radiographic studies of the abdomen. Etiologies include hemorrhage into the adrenals at or immediately after birth, neuroblastoma, ganglioneuroblastoma, cortical carcinoma, pheochromocytoma, and cysts.
Deposition of calcium salts in the pituitary gland.
Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.
Absence or underdevelopment of the thymus.
The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.
An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.
A developmental defect resulting in the presence of a thyroglossal cyst, a fibrous cyst that forms from a persistent thyroglossal duct. During the embryologic development of the thyroid gland, the precursor of the thyroid migrates from the base of the tongue inferiorly though the thyroglossal duct. This duct normally disappears following the development and migration of the thyroid gland, but if a portion of the duct remain it can form a thyroglossal cyst.
An abnormal increase in quantity or strength of fetal movements.
Gait apraxia affecting the ability to make walking movements with the legs.
A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).
An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.
Note that dyslexia refers to a developmental reading disability, whereas alexi arefers to an acquired reading disability related to damage to the brain in an individual in whom reading ability had previously been developed.
Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.
An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.
A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.
Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit.
Inability to recognize faces of familiar persons.
The tendency to repeat vocalizations made by another person.
Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate.
Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.
The combination of pendular nystagmus, head nodding, and torticollis.
A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.
An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles.
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
The presence of an abnormally thin calvarium.
A degree of pneumatization that is increased compared to age-related norms.
Advanced pneumatization of cranial sinuses
The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.
Furrows in thickened skin on top of scalp
Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.
Bursts of large-amplitude multidirectional saccades without intersaccadic interval
Spontaneous, non-rhythmic, multi-directional, chaotic movements of the eyes, giving the appearance of agitation. There may be bursts of conjugate movement of the eyes in varying directions and of varying amplitude.
Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.
Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.
Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.
A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.
Paralysis due to lesions of the principle motor tracts
Weakness due to upper motor neuron dysfunction
Severe or complete weakness of both lower extremities with sparing of the upper extremities.
Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.
An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.
A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.
We have set an arguably arbitrary threshold to distinguish the object form the subjective finding. While severe degrees of cutaneous syndactyly are clearly objective, more subtle degrees are subjective. We set this threshold to distinguish these two situations. The digits (or parts of) are joined together by tissue that is not normally present between the digits at that point in the P/D axis. A modifier of "complete" may be used if the cutaneous syndactyly extends to the distal end of the nail bed of the digits. The affected digits should be specified. Note that the unqualified term "syndactyly" is no longer allowed as it is unclear whether this refers to bony or cutaneous syndactyly.
A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
Overlapping of the fingers occurring as the result of a deviation of the fingers from their normal position. Fingers that are laterally deviated, but do not rest on top of adjacent fingers should be coded as Clinodactyly.
An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.
An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).
An abnormally wavy surface or edge of the clavicles.
An abnormally wavy surface or edge of the ribs.
A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.
This term applies if the Epiglottis is absent or hypoplastic.
A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.
A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.
Elevated levels of cholesta-5,7-dien-3beta-ol
Elevated 7-dehydrocholesterol levels occur as the result of a deficiency of the enzyme delta-7-sterol reductase, the penultimate enzyme of mammalian sterol biosynthesis that converts 7-dehydrocholesterol (7-DHC) to cholesterol. This enzyme removes the C(7-8) double bond introduced by the sterol delta8-delta7 isomerases. In addition, its role in drug-induced malformations is known: inhibitors of the last step of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Homozygous mutations in the gene encoding for this enzyme are the molecular genetic cause of Smith-Lemli-Opitz Syndrome.
An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.
Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome.
Phytanic acid (3,7,11,15-tetramethyl hexadecanoic acid) is a fatty acid that is derived from chlorophyll and present in the diet. The metabolism of phytanic acid involves alpha-oxidation in the peroxisome, which converts phytanic acid to pristanic acid. Peroxisomes involved in the catabolism of very long chain fatty acids and phytanic acid. Peroxisomal malfunctioning can lead to over-accumulation of very long chain fatty acids and phytanic acid, among other things.
Any abnormality of the proximal epiphysis of the femur.
Abnormality of the end part of the innermost thighbone
Abnormality of the proximal femoral epiphysis
Note that the proximal epiphysis of the femur is often referred to as the capital femoral epiphysis from the Latin word caput for head.
Abnormality of the epiphysis of the femoral head
The presence of developmental dysplasia of the femoral head.
A cystic lesion originating within the brain.
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.
Increased bone density in end part of bone
Reduction in the size or volume of epiphyses.
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
The epiphysis is the rounded end of a long bone, at its joint with adjacent bone.
Any abnormality of the distal epiphysis of the femur.
Abnormality of the end part of the outermost thighbone
Abnormality of the distal femoral epiphysis
Any abnormality of the proximal epiphysis of the tibia.
Abnormality of the end part of innermost shankbone
Abnormality of the end part of innermost shinbone
Abnormality of the proximal tibial epiphysis
Abnormality of the end part of outermost shankbone
Abnormality of the end part of outermost shinbone
Abnormality of the distal tibial epiphysis
Abnormality of the end part of the calf bone
Any abnormality of the proximal epiphysis of the fibula.
Abnormality of the innermost end part of calf bone
Abnormality of the proximal fibular epiphysis
Any abnormality of the distal epiphysis of the fibula.
Abnormality of the outermost end part of calf bone
Abnormality of the distal fibular epiphysis
Any abnormality of the proximal epiphysis of the radius.
Abnormality of the proximal radial epiphysis
Any abnormality of the distal epiphysis of the radius.
Abnormality of the distal radial epiphysis
Any abnormality of the proximal epiphysis of the humerus.
Abnormality of the end part of the innermost long bone in upper arm
Abnormality of the proximal humeral epiphysis
Any abnormality of the distal epiphysis of the humerus.
Abnormality of the end part of the outermost long bone in upper arm
Abnormality of the distal humeral epiphysis
Any abnormality of the distal epiphysis of the ulna.
Abnormality of the distal ulnar epiphysis
Any abnormality of the proximal epiphysis of the ulna.
Abnormality of the proximal ulnar epiphysis
An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).
A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour.
Keratocystic odontogenic tumor (KCOT) most commonly affects the mandible, but may also be localized in the maxilla.
A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.
An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.
Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.
Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.
Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
Angiofibroma consist of many often dilated vessels.
The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.
Ovarian fibromas belong to the sex cord-stromal tumour group of ovarian neoplasms. Ovarian fibromas are most frequent during middle age, and rare in children. Upon gross pathological inspection, ovary fibromas are firm and white or tan.
A benign biphasic tumor of the breast with epithelial and stromal components.
A connective tissue tumor of the breast which is usually benign and painless. Fibromas of the breast are more common in young woman.
Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.
Increased prominence of the malar region (cheeks), as manifested by anterior positioning of the infraorbital and perialar regions or increased convexity of the face or increased naso-labial angle.
A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.
A tumor (abnormal growth of tissue) of the skeleton.
Absence or underdevelopment of the toenail.
Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.
Absence of the pituitary gland resulting from a developmental defect.
Underdevelopment of the anterior pituitary gland.
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Facial muscle weakness of muscles innervated by CN VII
Several conditions can cause a facial paralysis, e.g. brain tumor, stroke, and Lyme disease. However, if no specific cause can be identified, the condition is known as Bell's palsy. Named after Scottish anatomist Charles Bell, who first described it. Bell's palsy is the most common acute mononeuropathy (disease involving only one nerve) and is the most common cause of acute facial nerve paralysis.
Any abnormality affecting the cortex of the humerus.
Abnormal morphology of the cortex of the humerus
Any abnormality of a metatarsal bone epiphysis.
Abnormality of end part of long bone of foot
Abnormality of the epiphyses of the metatarsals
Any abnormality of the epiphyses of the feet.
Abnormality of the end part of the foot bone
Abnormality of the epiphyses of the feet
Inability to detect any qualitative olfactory sensation.
Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
Reduced ability to detect any qualitative olfactory sensation.
Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).
The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
A form of amyloidosis that affects the conjunctiva.
The deposition of amyloid, a noncollagenous protein, in the conjunctiva, which presents as a discrete, nontender, nonulcerative, waxy, yellow-white subconjunctival tissue.
An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Elevated alkaline phosphatase of hepatic origin
An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Elevated alkaline phosphatase of bone origin
Increased serum bone-specific alkaline phosphatase
Bone alkaline phosphatase (BALP) is encoded by the tissue non-specific form of alkaline phosphatase and thus is an isoform of this isoenzyme.
Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).
Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.
Absence or abnormal closure of the midnasal cavity.
Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.
Absence of the distal phalanges of the toes.
Aplasia of the distal phalanges of the toes
An abnormal lack of stability of the cervical spine.
The cervical spine is made up of two anatomically and functionally distinct segments: the upper cervical spine (C1and C2), which possesses the most rotational mobility with some degrees of frontal and sagittal plane mobility, and the lower cervical spine, which allows for two types of movements - flexion-extension and inclination-rotation. Cervical instability mainly involves the upper cervical spine, particularly between C1 and C2. Craniocervical ligaments are the main determinants of cervical spine stability.
Any abnormal increase or reduction in skin elasticity.
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).
An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.
Decreased size of the primary palate bone
Underdevelopment of the primary palate bone
An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.
The falx cerebri refers to the fold of dura mater which descends vertically in the longitudinal fissure between the cerebral hemispheres.
A developmental defect characterized by aplasia of the Falx cerebri.
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
Speckled calcifications in end part of bone
Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality.
An abnormality of the formation and mineralization of an epiphysis.
Abnormality of the mineralisation or ossification of the epiphyses
Abnormal maturation of the end part of a bone
Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Patchy reduction of bone mineral density
Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).
Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.
Patchy increased and decreased bone mineral density
Patchy variation in bone mineral density
An abnormality of the formation and mineralization of any bone of the skeleton of hand.
Abnormality of the mineralisation and ossification of bones of the hand
A developmental defect characterized by the absence of the Third ventricle.
An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.
The diencephalon comprises the thalamus, hypothalamus, epithalamus, prethalamus or subthalamus and pretectum.
A developmental defect characterized by fusion of the left and right halves of the thalamus.
Underdevelopment of the anterior nasal spine of maxilla.
Decreased projection of anterior nasal spine
Underdevelopment of anterior nasal spine
Decreased length of anterior nasal spine
A congenital defect characterized by absence of the Maxilla.
Failure of development of upper jaw bones
Underdevelopment of the zygomatic bone [UBERON_0001683]. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.
An abnormality of the third metatarsal bone.
Abnormality of the 3rd long bone of foot
Abnormality of the third metatarsal bone
The presence of an abnormal curvature of the vertebral column.
Abnormality of the curvature of the vertebral column
An abnormality of the formation and mineralization of any bone of the skeleton of foot.
Abnormality of the mineralisation and ossification of bones of the feet
Abnormal ossification involving bones of the feet
Enuresis occurring during sleeping hours.
Enuresis occurring during waking hours of the day.
An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Elevated alkaline phosphatase, liver/bone/kidney
Tissue non-specific alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 249, Uniprot P05186 (PPBT_HUMAN). The gene is also known as alkaline phosphatase, liver/bone/kidney (ALPL ).
Elevated tissue non-specific alkaline phosphatase
An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Elevated alkaline phosphatase of renal origin
An abnormally increased level of alkaline phosphatase, intestinal type in the blood.
Intestinal alkaline phosphatase (IAP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID:248, Uniprot ID: P09923 (PPBI_HUMAN).
Elevated intestinal alkaline phosphatase
An abnormally increased level of alkaline phosphatase, placental type in the blood.
Placental alkaline phosphatase (ALPP) is one of four distinct but related alkaline phosphatases. Entrez Gene ID 250, Uniprot P05187 (PPB1_HUMAN).
An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Low tissue non-specific alkaline phosphatase
An abnormally reduced level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
An abnormally reduced level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Low alkaline phosphatase of renal origin
An abnormally reduced level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.
Low alkaline phosphatase of hepatic origin
An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.
An abnormally reduced level of alkaline phosphatase, placental type in the blood.
A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes.
Transplantation of the ZPA (zone of polarised activity) to the anterior margin of a limb bud in the chick results in mirror image duplication of limb elements (Tabin, 1991). Similarly, mirror image duplication in the forelimb of the mouse has been observed with ectopic expression of Hox b-8 (Charit6 et al, 1994). Mirror hand anomaly in humans has been shown to be due to either aberrant positioning of the ZPA or altered inductive interactions of the Shh gene resulting in impairment of the mechanism responsible for the organization and differentiation of the limb bud, rather than a primary duplication event. In other words, the primary event results in failure of the radial ray to develop. The ulnar area will then induce the differentiation of two groups of ulnar rays. Timing of this insult could play a critical role in severity of this phenotypic feature. Syndromal mirror hand is probably due to agene mutation of the Shh gene (Hersh et al, 1995). Finally, the multiple hand deformity may be explained by true duplication of the ZPA.
Mirror image duplication of digits affecting the hands only.
Mirror image duplication of digits affecting the feet.
Syndactyly with fusion of fingers two to five.
A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.
The word "pulverulent " means dust-like and refers to the dustlike appearance of the punctate opacities in this type of cataract. The word pulverulent refers to the very small size of the punctate opacities (like flecks of dust) rather than to a dust-like color.
A Lamellar cataract with a pulverulent (punctate, "dust-like" opacities) appearance.
Opacities located in the perinuclear (lamellar) zones of the lens.
A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.
During lens terminal differentiation, the originally cuboidal lens vesicle cells elongate into long fiber-like cells, or fibers. Y-shaped sutures form because of how the lens epithelial cells proliferate during formation. The Y sutures demarcate the boundaries between the lens cortex, which is peripheral to the Y sutures, and the lens nucleus, which is within and includes the Y sutures. The anterior Y suture is oriented upright, and the posterior Y suture is inverted.
A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.
A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.
A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.
A nuclear cataract with a triangular form.
An abnormal deviation from normal levels of immunoglobulins in blood.
Abnormal serum immunoglobulin concentration
'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal))
An increased level of gamma globulin (immunoglobulin) in the blood.
Syndactyly with fusion of fingers one and two.
Syndactyly with fusion of fingers four and five.
Syndactyly with fusion of fingers one to three.
Syndactyly with fusion of fingers one to four.
Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).
Syndactyly with fusion of the fingers two to four.
Syndactyly with fusion of fingers three to five.
Syndactyly with fusion of toes one and two.
Syndactyly with fusion of toes one to four.
Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).
Syndactyly with fusion of toes two to four.
Syndactyly with fusion of toes two to five.
Syndactyly with fusion of toes three to five.
Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".
An abnormality of the texture of the hair.
An abnormality of the distribution of hair growth.
An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).
An asymmetriy, i.e., difference in size, shape or position between the left and right ear.
An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.
Advanced pneumatization of the mastoid process
Abnormal prominence of the corneal nerve fibers.
Rupture of the eyeball not due to trauma.
A developmental defect characterized by absence of the retina.
Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.
This may present as a partial or complete duplication of the eyebrows.
Double eyebrow is commonly a feature of Mowat Wilson syndrome.
The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.
Extension of eyebrows towards upper eyelid
This is commonly a feature of Jacobson syndrome.
Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.
Naevus flammeus localised in the skin of the eyelid.
Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).
Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.
Fibrous dysplasia of the bones were lesions are localized in only one bone.
Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.
A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
An abnormal accumulation of fluid beneath the skin of the arms.
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
This is a subjective assessment and one generally compares the position of the MTP joint to that of the contralateral digit or the putatively shortened ray in proportion to the other rays. The affected digits should be specified.
A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.
Absence of a digit or of one or more phalanges of a toe.
An abnormal distribution of eyebrow hair growth in the medial direction.
Positioning of a lacrimal punctum other than at the medial margins of the eyelid.
Abnormal position of the lacrimal punctum
The openings of the tear ducts are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. Ectopic positions can include the upper eyelid, nasal bridge, or inferior to medial aspect of the lower lid.
Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.
Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. Most of these atrophic patients do not go through a hypertrophic phase. Multiple attacks of eyelid edema result in thinning, stretching, and atrophy of eyelid tissues. The eyelid skin becomes redundant, discolored, and atrophic, appearing like wrinkled cigarette paper. The upper eyelids are more commonly affected, but the lower eyelids may also be involved. Blepharochalasis is not synonymous with dermatochalasis.
Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.
A persistent midline depression of the skin over the fat pad of the chin.
Midline deficiency of the mandible and some or all overlying tissues.
An anomaly of the temporomandibular joint.
Deformity of the temporomandibular joint
Derangement of the temporomandibular joint
Malformation of the temporomandibular joint
Abnormality of the temporomandibular joint
Asymmetry between the left and right sides of the maxilla.
Asymmetry of right and left side of the maxilla
Absence or underdevelopment of the premaxilla.
Aplasia/hypoplasia of the intermaxillary bone
Aplasia/hypoplasia of the primary palate bone
Absence of the Premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.
Failure of development of the primary palate bone
An abnormality of the premaxilla [UBERON_0002244], the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.
Abnormality of the intermaxillary segment of the maxilla
Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.
Anterior position of the primary palate bone
As a consequence of prominence of the premaxilla, the overlying structures, the nose and philtrum, may appear prominent. There is increased convexity of the face and an increased nasolabial angle. In the presence of a normal sized mandible, retrognathia may be appreciated.
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
This descriptor does NOT require absence of the metatarsal. The definition excludes partial absent hallux.
A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.
The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks.
Insertion of the posterior columella below the nasal base.
This feature is different from a convex Low hanging columella that has a normal insertion. It may be associated with a Short philtrum, but this should be assessed and coded separately. A low insertion is best appreciated when viewed from the side.
Decreased length of the eyelashes (subjective).
Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls.
Hyperkeratosis affecting the palm of the hand.
Deposition of calcium salts in a tissue or location in which calcification does not normally occur.
The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.
A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.
A hair-containing cyst or sinus usually in the coccygeal region.
A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.
A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.
Partial anomalous pulmonary venous connection
Partial anomalous pulmonary venous return
The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).
A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.
Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.
Tracheobronchmegaly is typically characterized by atrophy or absence of elastic fibers and thinning of smooth muscle layers in the trachea and main bronchi.
Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.
The presence of an abnormally large pelvis.
Over-sensitivity to certain frequency ranges of sound.
Hyperacusis refers to a general hypersensitivity to sound of any frequency, and phonophobia to an anxious sensitivity towards specific sound largely independent of its volume. Hyperacusis and phonophobia represent disturbances of central auditory processing without peripheral pathology, often combined with psychosomatic reactions.
Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.
A subtype of skin dimples occurring in the shoulder region.
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
A tumor (abnormal growth of tissue) of the uterus.
A tumor (abnormal growth of tissue) of a gonad.
The presence of a neoplasm of the urinary system.
A tumor (abnormal growth of tissue) of the genital system.
The presence of a neoplasm of the testis.
Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.
A digit with two nails, with at least some soft tissue between them.
Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).
The ability to see an object or picture as a set of parts and then to construct a replica of the original from these parts is known as visuospatial constructive cognition. Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Williams-Beuren Syndrome.
Impaired visuospatial constructive cognition
A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.
Increased focal pigmentation of the vermilion of the lips.
Lip freckles may be accompanied by Perioral hyperpigmentation, but this should be assessed separately. Lentigo is commonly used as a synonym for freckle in reference to the vermilion, but these are distinct terms when referring to the skin.
Lack of paramedian peaks and median notch of the upper lip vermilion.
This bow is often absent in a Thin vermilion of the upper lip, but that should be assessed separately. This finding is commonly associated with Smooth philtrum, but that should be coded separately.
Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).
Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.
Periorbital hyperpigmentation may be accompanied by Lip freckles, but this should be assessed separately.
Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.
In frontal view, with the face relaxed, the apparent height of the upper lip vermilion is excessive and the upper incisors may be visible. On profile view, the vermilion is more convex than usual. An everted upper lip may be associated with a short philtrum, and may be secondary to protruded upper teeth, but these should be assessed and described separately.
Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.
This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture.
Oral commissures positioned superior to the midline labial fissure.
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the upper lip is enlarged.
Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.
The U-shaped upper vermilion is a more rounded version of the Tented upper lip vermilion. In U-shaped upper vermilion there is loss of the central groove of the Cupid's bow. Replaces: Carpmouth; Fish mouth (pejorative terms).
Visible space between the dental arches in occlusion.
Absence of overlap of upper and lower teeth
An open bite produces an absence of vertical overlap of the two dental arches. It may be associated with malocclusion, but this should be coded separately. Open bite can be accompanied by malocclusion, which is a complex bundled term. The Angle classification of malocclusion (Classes I-III) is widely used in the orthodontics community [Moyers, [1973]] for the characterization of malocclusion.
Tongue extending beyond the alveolar ridges or teeth at rest.
Protruding tongue may or may not be associated with a Large tongue, and that finding should be assessed and coded separately.
Increased width of the uvula (subjective finding).
This finding often accompanies a Submucous cleft palate, but this should be coded separately. A longitudinal groove indicating incomplete fusion of the two parts of the uvula may be present with a broadened uvula and has sometimes been called abortive cleft uvula.
In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
Objective measurement of the length of the uvula can be determined on a lateral cephalograms. However, in this series we are not relying on radiographs for assessment of findings. In clinical practice, the size of the uvula cannot be easily measured and is not static, since it depends on the position of the soft palate, the base of the tongue, and the head. Therefore, judgment of change in length of the uvula depends heavily on the experience of the observer.
Most individuals have one clockwise hair whorl at a single point on the scalp lateral to the midline but close to the vertex of the skull. Five percent of the population has two whorls. A double hair whorl is sometimes referred to as a double crown. In 10%, whorl direction is counter-clockwise.
Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.
Placement of hair whorl should be described as parietal, vertex, eccentric, etc. In addition, the number of hair whorls should be noted. Five percent of the population has two whorls.
A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.
Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.
Epidermal nevus arises from a defect in the ectoderm and in general are due to an overgrowth of keratinocytes. Subclasses of epidermal nevus include Linear epidermal naevus, epidermolytic epidermal naevus, acantholytic epidermal naevus, linear porokeratosis, and systematised epidermal naevus. Several other conditions are also characterised by benign overgrowth of the epidermis and its appendages (organoid naevi), including inflammatory linear verrucous epidermal naevus, sebaceous naevus, sweat gland naevi, comedone naevus, and Becker naevus.
A type of nevus sebaceous with a linear form, raised borders and yellowish color.
Generalized seizures with sustained increase in muscle contraction lasting a few seconds to minutes.
Characterized by a sudden increase in muscle tone whereby the body, arms, or legs make sudden stiffening movements and consciousness is usually preserved. Tonic seizures can occur during sleep. Tonic seizures usually affect both sides of the body, and cause a fall if the affected person was standing when the seizure started.
Seizures characterized by a sudden loss or diminution of muscle tone, which may be fragmentary, confined to a segment (limb, jaw, head), or massive, leading to a slumping to the ground .
A type of seizure characterized by crying or an outburst of crying as a major feature.
The word dacrystic is derived from the Greek word dakryon (tear).
A type of seizure characterized by laughing or an outburst of laughing as a major feature.
Laughter is usually lasts briefly, about 30s. Laughing can also be a component of several other kinds of seizures such as partial seizures with motor symptoms, myoclonic seizures, axial tonic seizures, flexor spasms, generalized convulsive seizures, and petit mal absences.
A scintillating scotoma is a common visual aura that can preced a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.
An overlap of the bony plates of the skull in an infant, with or without early closure.
Any structural abormality of the fifth cranial nerve.
Abnormality of the eleventh cranial nerve.
Abnormality of the twelfth cranial nerve.
Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.
Abnormality of the seventh cranial nerve
Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.
Hemifacial spasm presents in the fifth or sixth decade of life, and is almost always unilateral. An attack usually begins with brief clonic movements of the orbicularis oculi and spreads over years to other facial muscles. Hemifacial spasm is often the result of chronic irritation of the facial nerve or nucleus.
A reduced ability to discriminate between different temperatures.
Temperature sensation can be tested by touching the skin several seconds with a water flask filled to the desired temperature. Persons with normal temperature sensation should at least be able to identify as warm a flask that is 35-36 degrees C and identify as cool a flask at 28-32 degrees C.
A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.
A loss or impairment of the sensation of the relative position of parts of the body and joint position.
Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.
Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.
Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.
A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.
Dissociated sensory loss indicates a focal lesion within the spinal cord or brainstem.
An abnormality in the concentration of copper, which normally occurs as a cofactor for a number of proteins including amine oxidases and chaperone proteins.
Abnormal circulating copper concentration
Decreased concentration of ceruloplasmin in the blood.
Ceruloplasmin is the major copper-carrying protein in the serum. Decreased serum ceruloplasmin levels can indicate other defects in copper metabolism.
An increased concentration of non ceruloplasmin bound copper in the blood.
High nonceruloplasmin-bound serum copper
An increased concentration of copper in the urine.
An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).
Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).
Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Generalized slow activity in the EEG typically signifies serious dysfunction of the entire brain.
EEG: persistent abnormal rhythmic activity
EEG with persistent abnormal rhythmic activity
The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).
Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave.
The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).
EEG with spike-wave complexes (2.5-3.5 Hz)
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.
Burst suppression can occur in a generalized or lateralized distribution and is often a sign of severe encephalopathy. Generally, an interburst interval of 30 seconds or less is associated with a better prognosis than longer interburst intervals (>30 sec). Burst suppression is an electroencephalogram (EEG) pattern in which high voltage activity (burst) and flatline (suppression) periods alternate systematically but quasiperiodically (almost periodic but with variations in inter- and intra-burst duration) is a state of profound brain inactivation.
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.
In some patients, seizures can be provoked by specific external factors (reflex epilepsy), including flickering lights and patterns. These patients commonly show epileptiform discharges in the EEG when stimulated with flashing lights, black and white striped patterns and television. These evoked EEG abnormalities are called photoparoxysmal responses.
Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).
EEG: periodic lateralized epileptiform discharges
The epileptiform morphology of the discharges is not invariable, as PLEDS are often closer to slow waves than to sharp waves in morphology. PLEDs are often are caused by acute destructive focal lesions. PLEDs are often a transitory phenomenon, disappearing in a matter of weeks, even if the causal lesion persists, and often transforming into a less specific but more persistent focal slow appearance.
EEG with periodic lateralized epileptiform discharges
An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
EEG with generalized low amplitude activity
An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
EEG with localized low amplitude activity
Periodically occurring generalized periodic complexes.
Periodically recurring abnormalities in the EEG.
Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Hyperventilation (overbreathing) is widely used as a diagnostic procedure to activate epileptiform EEG discharges.
EEG with hyperventilation-induced epileptiform discharges
A kind of breech presentation in which the hips are flexed and the knees are extended.
A kind of breech presentation in which the hips are flexed and the knees are flexed.
A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.
A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.
A delay in the acquisition of the ability to understand the speech of others.
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision.
An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.
Oppositional defiant disorder is basically a persistent pattern of tantrums, arguing, and angry or disruptive behavior that goes beyond what can be considered normal.
An incomplete closure of the abdominal wall.
Congenital anterior abdominal wall defect
A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.
A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.
A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.
Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.
Afferent (seonsory) ataxia is caused by lackof proprioceptive feedback during gait and stance. It can be caused by lesions to the peripheral nerves, the dorsal root ganglia, or the spinal cord. It can be distinguished from cerebellar ataxia by (1) heavy dependence of the affected individual on visual guidance; (2) a minor degree of oculomotor deficits; and (3) the absence of dysarthria. Afferent ataxia may be associated with impaired tendon reflexes and sensory deficits.
An inversion of the T-wave (which is normally positive).
Atrophy of the cervical segment of the spinal cord.
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.
An abnormal level of a circulating protein in the blood.
Abnormality of circulating protein level
A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.
The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm.
Upon ultrasound examination, fetal cystic hygroma presents as a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts related to the posterior aspect of the neck. Cystic hygromas can range from increased nuchal translucency to thin-walled cystic masses that may become larger than the fetal head. The cysts may result from a lymphatic abnormality, possibly one caused by absent or inefficient connections between the lymphatic and venous systems. Depending on the site, the cut off may vary from site to site. Lowest would be 2.5 mm and highest 3.5 mm.
The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination).
Increased nuchal translucency may be related to a cystic hygroma or to mesenchymal edema. Increased nuchal translucency can be classified into three categories: 1) cardiac abnormalities, combined with abnormal ductus venosus flow velocities, is found, leading to the theory that cardiac failure causes nuchal translucency enlargement; 2) various types of abnormalities are found in the extracellular matrix of the nuchal skin of fetuses with increased nuchal translucency; 3) abnormal lymphatic development is demonstrated in fetuses with increased nuchal translucency.
An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.
A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.
A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.
Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.
Death of bone due to decreased blood supply
The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases.
A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Joints that are most often affected by Osteochondrosis dissecans are elbow and hip, but also wrist and ankel joints.
Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.
Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.
Results most often from a stress-fracture and consecutive devascularisation of the Os lunatum.
Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.
Painfull irritation and localized bony necrosis affecting the Tuberositas tibiae, where tha patellar tendon inserts.
A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).
Scheuermann's disease usually manifests during the 2nd decade and leads to the appearance of the so called adolescence kyphosis. Late manifestations may be wedge-shaped vertebrae, platyspondyly and arthrosis affecting the verterbal collum.
Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.
Abnormal circulating branched chain amino acid concentration
Any deviation from the normal concentration of phenylalanine in the blood circulation.
Abnormal circulating phenylalanine concentration
Any deviation from the normal concentration of a serine family amino acid in the blood circulation.
Abnormality of serine family amino acid metabolism
Abnormal circulating serine family amino acid concentration
Any deviation from the normal concentration of glycine in the blood circulation.
Abnormal circulating glycine concentration
An elevated plasma concentration of sarcosine.
Sarcosine is the N-methyl derivative of glycine.
An elevated urinary concentration of sarcosine.
An deviation from the normal concentration of sarcosine in the blood circulation.
Sarcosine, which is also known as N-methylglycine, is an intermediate and byproduct in glycine synthesis and degradation.
Abnormal circulating sarcosine concentration
Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.
Abnormal circulating aspartate family amino acid concentration
Any deviation from the normal concentration of threonine in the blood circulation.
Abnormal circulating threonine concentration
Any deviation from the normal concentration of methionine in the blood circulation.
Abnormal circulating methionine concentration
Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.
Abnormal circulating glutamine family amino acid concentration
Any deviation from the normal concentration of glutamine in the blood circulation.
Glutamine is a charge-neutral, polar amino acid.
Abnormal circulating glutamine concentration
An abnormality of a histidine metabolic process.
Abnormal circulating histidine concentration
obsolete Abnormality of histidine metabolism
An increased concentration of histidine in the blood.
Blood histidine levels over 500 micromole per liter. Normal blood histidine levels are around 80-90 micromole per liter.
Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.
Abnormal circulating proline concentration
Any deviation from the normal concentration of lysine in the blood circulation.
Abnormal circulating lysine concentration
Any deviation from the normal concentration of arginine in the blood circulation.
Arginine is a charged, aliphatic amino acid.
Abnormal circulating arginine concentration
An increased concentration of valine in the blood.
An increased concentration of leucine in the blood.
Normal leucine blood levels are around 120-160 micromole per liter.
Any deviation from the normal concentration of isoleucine in the blood circulation.
Abnormal circulating isoleucine concentration
An increased concentration of isoleucine in the blood.
Normal isoleucine blood levels are around 60-80 micromole per liter.
Any deviation from the normal circulation of valine in the blood circulation.
Abnormal circulating valine concentration
An abnormality of a pyruvate family amino acid metabolic process.
Abnormality of pyruvate family amino acid metabolism
Abnormal circulating pyruvate family amino acid concentration
An abnormality of an alanine metabolic process.
Abnormal circulating alanine concentration
Any deviation from the normal concentration of tyrosine in the blood circulation.
Abnormal circulating tyrosine concentration
An abnormality of a cysteine metabolic process.
Abnormal circulating cysteine concentration
An abnormality of a homocysteine metabolic process.
Abnormal circulating homocysteine concentration
Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
Zonular cataracts include specific regions of the lens and include nuclear cataracts, which affect the fetal or embryonic lens nucleus and lamellar cataracts. These tend to affect lens fibers that are formed at the same time, resulting in a shell like opacity. Zonular cataracts can also be characterized as dense or pulverulent (dusty appearing), and can be accompanied by arcuate opacities extending into the lens cortex, called cortical riders.
A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.
A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.
A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.
A cataract that affects the posterior part of the cortex of the lens.
A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.
This phenotype is characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens. Some crystals may be 11 mm in length, and their biochemical composition is not known. This type of cataract is considered to be different from the corraliform cataract, which does not show the needlelike projections. This opacity does not appear to respect the sutures or the direction of the lens fibers (Francois 1963) and appears to originate from the fetal and postnatal nuclei, suggesting a congenital origin with some postnatal progression, if any.
An abnormality of divalent inorganic cation homeostasis.
Abnormality of divalent inorganic cation homeostasis
Abnormal blood inorganic cation concentration
obsolete Increased urinary orotic acid concentration
An abnormality of monovalent inorganic cation homeostasis.
Abnormality of monovalent inorganic cation homeostasis
Abnormal blood monovalent inorganic cation concentration
An abnormality of a nucleobase metabolic process.
This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine.
Abnormal circulating nucleobase concentration
An increased level of xanthine in the blood circulation.
Xanthine is a purine base that is a product of purine degradation.
An increased concentration of xanthine in the urine.
Xanthinuria is generally caused by a defect in the xanthine oxidase, an enzyme that catalyzes the oxidation of hypoxanthine to xanthine and can further catalyze the oxidation of xanthine to uric acid. The formation of xanthine stones in the urinary tract is the main evidence of this abnormality.
An abnormality of the upper urinary tract.
The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters.
An abnormality of the lower urinary tract.
The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra.
An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.
Absence or underdevelopment of the nasal bone.
Failure of development of the nasal bone
A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.
An echogenic intracardiac focus (EIF) is generally believed to be a normal variant, observed in 5% of all fetuses during second trimester sonography, but the risk of aneuploidies such as Down syndrome is increased in fetuses with EIF.
Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.
Echogenic fetal bowel may be observed in fetuses with normal outcomes, but may also be a marker for diseases such as cystic fibrosis, congenital infection, chromosomal anomalies, and intraamniotic bleeding. This finding can be observed on prenatal ultrasound. The echogenicity has been classified as either focal or multifocal. Grade 2 suggests that echogenicity is equal to bone whereas grade 3 suggests that it is greater.
Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.
The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargement of the renal pelvis from 4 to 10 millimeters. In many cases, fetal pyelectasis resolves spontaneously. Note that dilatation of the renal pelvis to more than 10 mm is referred to as severe pyelectasis or hydronephrosis. Measurements less than 5mm are normal, should not be designated as pyelectasis, and should not be reported (pmid:16100637).
The presence of dilatation of the renal pelvis.
A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.
The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth. The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave.
Abnormality of ductus venosus blood flow
An abnormality of the fetal circulation system or fetal echocardiogram.
Abnormality of the fetal circulation system
Abnormality of the fetal cardiovascular system
A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.
Umbilical vein blood flow (UVBF) is closely related to the mass of placental cotyledons and is considered an expression of the amount of oxygen and nutrients transferred from the mother to the fetus.
Abnormality of umbilical vein blood flow
The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata.
The third ventricle is the cerebral ventricle that is located in the midline between the left and right lateral ventricles.
A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (pmid:16100637).
A ventricular atrial diameter of more than 10 mm at 20-24 weeks of gestation has been accepted as defining ventriculomegaly because it represents at least 3 standard deviations above the mean (which is roughly 5 mm at 20-24 weeks of gestation). If the diameter is above 15 mm, the ventriculomegaly is considered to be severe. Amongst the most common causes of ventriculomegaly are impaired absorption of CSF, developmental cerebral defects, and destroyed brain tissue.
A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.
The most common form of noncommunicating hydrocephalus is obstructive and is caused by intraventricular or extraventricular mass-occupying lesions that disrupt the ventricular anatomy.
Underdevelopment of the right-sided structures of the heart.
Hypoplastic right heart syndrome (HRHS) causes inadequate blood flow to the lungs postnatally and thus leads to cyanosis. HRHS involves pulmonary valve atresia, hypoplasia of the right ventricle, hypoplasia of the tricuspid valve, and a small, hypoplastic pulmonary artery. As the ductus arteriosus closes postnatally, infants with HRHS become critically ill.
The presence of a dilated urinary bladder.
Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.
Abnormal enlargement of the fetal bladder can be detected by prenatal ultrasound by fourteen weeks of gestation. In some cases, dilatation of the fetal bladder is transient and resolves without sequelae, and in other cases it is the earliest manifestation of bladder outlet obstruction.
A developmental defect resulting in an obstructing membrane in the posterior male urethra.
Congenital posterior urethral valve is a cause of bladder outlet obstruction in male newborns. It results from a failure of resorption of the caudal end of the Wolffian duct into the primitive cloaca at the site of the future verumontanum in the posterior urethra (Following normal resorption of the posterior urethral valve there remain the posterior urethral folds, also called plicae colliculi).
A bilateral form of agenesis of the kidney.
Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis.
Congenital cystic adenomatoid malformation (CCAM) results in a multicystic mass that replaces the normal lung structure. CCAM is usually unilateral and confined to a single lobe of the lung.
Congenital cystic adenomatoid malformation of the lung
The presence of microscopic cystic masses of nonfunctioning pulmonary tissue that lack an obvious communication with the tracheobronchial tree.
Typically, the lung tissue in BPS receives all or most of its blood supply from an anomalous systemic artery, with the origin of this artery being variable.
A kind of bronchopulmonary sequestration that is incorporated into the normal surrounding lung.
Intralobar sequestration (ILS) may be diagnosed on antenatal ultrasound screening. ILS can be asymptomatic in later life or can lead to signs and symptoms related to inadequate tracheobronchial drainage caused by the lesion of adjacent atelectatic lung.
A kind of bronchopulmonary sequestration that is completely discrete from the normal lung and is surrounded by separate pleura.
Extralobar sequestration (ELS) may be asymptomatic. Infants with symptomatic lesions may present with respiratory distress, pneumonia, feeding difficulties, hemorrhage, or even congestive heart failure. The sequestered lobe may cause substantial arteriovenous shunting, leading to high-output cardiac failure.
By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.
The absence of stomach bubble on fetal sonography can be an indication of malformations such as esophageal atresia, especially in combination with polyhydramnios.
Absence of stomach bubble on fetal sonography
Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.
A long-chain fatty-acid is defined as an aliphatic monocarboxylic acid with a chain length of C13 to C18.
Abnormal circulating long-chain fatty-acid concentration
Any deviation from the normal concentration of phytanic acid in the blood circulation.
Phytanic acid is a branched-chain saturated fatty acid consisting of hexadecanoic acid carrying methyl substituents at positions 3, 7, 11 and 15.
Abnormal circulating phytanic acid level
Any deviation from the normal concentration of a fatty acid anion in the blood circulation.
A fatty acid anion is the conjugate base of a fatty acid.
Abnormal circulating fatty-acid anion concentration
Any deviation from the normal concentration of carnitine in the blood circulation.
L-carnitine (3-hydroxy-4-N.trimethylammonium butyrate) plays a key role in facilitating the transport of long-chain fatty acids from the cytosol into the mitochondrial matrix, where they undergo 13-oxidation.
Abnormal circulating carnitine concentration
An abnormality of liposaccharide metabolism.
Abnormality of liposaccharide metabolism
An abnormality of glycolipid metabolism.
An abnormality of an erythrocyte cell surface molecule.
During development, the human immune system recognizes antigens of the body as 'self' and does not generate antibodies against them.
Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.
Absence of Lutheran antigen on erythrocytes
A kind of anemia characterized by inadequate production of erythrocytes.
A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage.
A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.
An abnormal decrease from the normal count of B cells.
Plasma B cells differentiate from B cells and secrete large amounts of antibodies.
An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.
A functional abnormality of the immune system.
An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.
Abnormality of the level of lipoprotein cholesterol
Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL.
Abnormality of lipoprotein cholesterol concentration
An abnormal increase in the level of lipoprotein cholesterol in the blood.
An abnormal decrease in the level of lipoprotein cholesterol in the blood.
A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci.
A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.
A type of multifactorial inheritance governed by the simultaneous action of two gene loci.
A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes.
An abnormality of the morphology or counts of the cells that make up the immune system.
Abnormal cellular immune system morphology
An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.
The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X.
An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.
The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets.
An abnormality of blood coagulation, common pathway.
The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex.
Abnormality of the common coagulation pathway
An abnormality of the abdominal musculature.
Abnormality of the abdominal musculature
Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.
An abnormality of the cerebral subcortex.
The cerebral subcortex contains the basal ganglia and the cerebral white matter.
Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.
The striatum (also known as the neostriatum or striate nucleus) contains the caudate nucleus and putamen, which are separated from one another by a white matter tract called the internal capsule. The striatum is part of the basal ganglia and receives input from the cerebral cortex. Essentially all cortical areas (sensory, motor and associational) project to the striatum. The other major input to the striatum comes from the thalamus, particularly the intralaminar thalamic nuclei.
Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.
A dicarboxylic acid is an oxoacid containing two carboxy groups.
Abnormal circulating dicarboxylic acid concentration
Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.
Abnormal circulating monocarboxylic acid cocentration
Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.
Radiation-induced chromosome instability
Increased tendency to chromosomal breakage induced by crosslinking agents is typical for several disorders including ataxia teleangiectasia and Nijmegen breakage syndrome.
Chromosomal breakage induced by ionizing radiation
An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.
Increased susceptibility to spontaneous sister chromatid exchange is characteristic for Bloom syndrome.
Increased susceptibility to spontaneous sister chromatid exchange
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
This term may be merged with Increased bone density in the future or made obsolete.
Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.
A severe form of myopia with greater than -6.00 diopters.
An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.
Abnormality of the systemic arterial tree
A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.
In mixed cirrhosis, there are regenerating nodules under and over 3 mm in size.
Abnormality of the musculature of the neck
The speed at which disease manifestations appear and develop.
Sudden appearance of disease manifestations over a short period of time.
The word acute is applied to different time scales depending on the disease or manifestation and does not have an exact definition in minutes, hours, or days.
Slow, creeping onset, slow progress and long continuance of disease manifestations.
According to the U.S. National Center for Health Statistics, a chronic condition is one lasting 3 months or more.
Somewhat rapid onset and change of disease manifestations.
A deviation from the normal concentration of a polysaccharide in the blood circulation.
Abnormal circulating polysaccharide concentration
A deviation from the normal concentration of a carbohydrate in the blood circulation.
An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them.
Abnormal circulating carbohydrate concentration
An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
An abnormality of the concentration of glucose in the blood.
Abnormality of blood glucose concentration
An abnormality of the concentration of glucose in the urine.
Abnormality of urine glucose concentration
An abnormality of chromosome condensation.
An abnormality of the metabolism of mucopolysaccharide.
Abnormality of mucopolysaccharide metabolism
A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.
Abnormal circulating unsaturated fatty acid concentration
Any deviation from the normal concentration of a prostaglandin in the blood circulation.
Abnormal circulating prostaglandin circulation
An abnormality of the gastrointestinal tract.
Abnormality of the gastrointestinal tract
Abnormal functionality of the cardiovascular system.
Abnormality of cardiovascular system physiology
Abnormal cardiovascular system physiology
Aplasia or developmental hypoplasia of the vagina.
The Fallopian tubes (also known as oviducts, uterine tubes, and salpinges) are ducts that lead from the ovaries into the uterus.
The presence of hemorrhage within the body.
An abnormality of the homeostasis (concentration) of transition element cation.
Abnormality of transition element cation homeostasis
Abnormal blood transition element cation concentration
An abnormality of the homeostasis (concentration) of iron cation.
An abnormality of the regulation of body fluids.
An impairment of a fructose metabolic process.
The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.
The medical literautre on amyloidosis is confused with clinical and histochemical designations used when the amyloid disease processes were poorly understood. To be designated an amyloid fibril protein, the protein must occur in tissue deposits and exhibit affinity for Congo red and green birefringence when viewed by polarisation microscopy.
An abnormality of the cortex of the kidney.
An altered ability of the kidneys to void urine and/or specific substances.
A reduction in the overall amount of urine output.
An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
An abnormality of the intrahepatic bile duct.
Abnormality of the intrahepatic bile duct
Aplasia or developmental hypoplasia of the cervical vertebral column.
Aplasia/Hypoplasia of the cervical spine
An abnormal concentration of corticotropin in the blood.
Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex.
Abnormality of circulating adrenocorticotropin level
The presence of an altered number of of permanent teeth.
Agenesis of adult maxillary central incisor
Failure of development of permanent maxillary central incisor
Absence of permanent maxillary central incisor
Absence of permanent upper central incisor
Missing permanent maxillary central incisor
This feature is to be distinguished from single central upper incisor, which is median.
Agenesis of permanent maxillary central incisor
Agenesis of upper central primary incisor.
Agenesis of deciduous maxillary central incisor
Failure of development of deciduous maxillary central incisor
Failure of development of primary maxillary central incisor
Absence of deciduous maxillary central incisor
Absence of primary maxillary central incisor
Missing deciduous maxillary central incisor
Missing primary maxillary central incisor
Agenesis of primary maxillary central incisor
Agenesis of deciduous lower central incisor
Agenesis of primary lower central incisor
Failure of development of deciduous mandibular central incisor
Failure of development of primary mandibular central incisor
Absence of deciduous mandibular central incisor
Absence of primary mandibular central incisor
Missing deciduous mandibular central incisor
Missing lower central incisor milk tooth
Missing primary mandibular central incisor
Agenesis of primary mandibular central incisor
Agenesis of adult mandibular central incisor
Failure of development of permanent mandibular central incisor
Absence of permanent lower central incisor
Absence of permanent mandibular central incisor
Missing permanent mandibular central incisor
Agenesis of permanent mandibular central incisor
Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.
Agenesis of deciduous maxillary lateral incisor
Failure of development of deciduous maxillary lateral incisor
Failure of development of primary maxillary lateral incisor
Absence of deciduous maxillary lateral incisor
Absence of primary maxillary lateral incisor
Missing deciduous maxillary lateral incisor
Missing primary maxillary lateral incisor
Agenesis of primary maxillary lateral incisor
Agenesis of one or more upper lateral secondary incisor.
Agenesis of permanent upper lateral incisor
Failure of development of permanent maxillary lateral incisor
Failure of development of permanent upper lateral incisor
Absence of permanent maxillary lateral incisor
Missing permanent maxillary lateral incisor
Agenesis of permanent maxillary lateral incisor
Note that premolar teeth occur only in the permanent dentition.
Failure of development of maxillary bicuspid
Failure of development of maxillary premolar
Failure of development of mandibular premolar
Failure of development of permanent molar
Failure of development of secondary molar
Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.
Failure of development of first permanent molar
Failure of development of six year molar
Agenesis of either mandibular second permanent molar or maxillary second permanent molar.
Failure of development of second permanent molar
Failure of development of twelve year molar
Developmental dysplasia of dentin affecting only the primary dentition.
Dentinogenesis imperfecta limited to primary teeth
An abnormality of the structure or composition of the teeth.
An abnormality of morphology of the incisor tooth.
The presence of an altered number of the incisor teeth.
An abnormal conical morphology of the incisor tooth.
Conical incisors are incisors that are round in cross-sectional views of the crown or that have a rounded appearance. Conical incisors may have a pointed shape that tapers to a point at the tip of the tooth. One speaks of conical incisor for a conical shaped tooth that is located in the region where incisors normally are.
The presence of a supernumerary tooth in the midline between the maxillary central incisors.
A mesiodens is not a supernumerary incisor (i.e., it does not have the morphology of an incisor). Rather, it is a conoid, extra tooth located between the maxillary central incisors.
MPATH defines odontoma as a hamartomatous malformation of odontogenic tissue. It may vary from nondescript masses of dental tissue (complex odontoma) to multiple well-formed teeth (compound odontoma).
The presence of a supernumerary, i.e., extra, tooth or teeth.
The most frequent supernumerary tooth is a mesiodens, which occurs between the two maxillary central incisors. Often it fails to erupt, but creates a large anterior diastema, and would not be detected on physical examination (requires X-ray evaluation). This designation excludes coexistence of primary and permanent dentition due to delayed loss of the former. Note that this term does not refer to the situation in which two rows of teeth are seen at the time of eruption of permanent dentition before exfoliation of primary teeth, which can be a normal finding.
An abnormality of morphology of molar tooth.
An abnormality of morphology of permanent molar.
Abnormality of permanent molar morphology
A localized form of developmental hypoplasia of the dental enamel.
Green teeth are a rare finding in children with neonatal hyperbilirubinaemia due to blood group incompatibility, sepsis-induced cholestasis or biliary atresia. Rarely, green staining of the teeth may be seen with cholestasis and sepsis.
A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).
An abnormality of morphology of premolar tooth.
An abnormal conical morphology of the primary incisor.
An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.
A form of hypomineralization of enamel characterized by reduced calcification.
A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.
Radiographically there is normal thickness of enamel and the enamel is slightly more radiolucent than dentin.
Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.
Dentinogenesis imperfecta of adult and baby teeth
Dentinogenesis imperfecta of both sets of teeth
Dentinogenesis imperfecta of primary and permanent teeth
Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).
An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.
Dens in dente is Latin for tooth inside of tooth.
A dental anomaly characterized by the presence of a two fused teeth.
The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.
The development of two teeth from a single tooth bud, leading to a larger fused tooth.
If the fused tooth is counted singly, then the total number of teeth is normal with gemination. Usually, there is a larger dental crown with a single root and single canal.
Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.
Increased size and molar morphology of premolar tooth.
Maxillary teeth cover the mandibular teeth when biting to an increased degree.
Increased overlap of upper and lower incisors
An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.
Abnormality of horizontal incisor relationship
Protrusion of upper teeth in front of lower teeth
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
This feature is generally diagnosed on the basis of a sural nerve biopsy. Demyelination is associated with slowed nerve conduction, increased refractoriness, and conduction block.
A sudden flexion, extension or mixed extension-flexion of predominantly proximal and truncal muscles which is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure.
The maximum age of onset is between 3 and 12 months, the peak being at 6 months. However, spasms may start from birth, or appear long after the age of 12 months, including into adulthood. Infantile spasms represent a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and hypsarrhythmia (as demonstrated by electroencephalography).
A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.
Speech apraxia may co-occur with oral apraxia and limb apraxia.
Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.
An abnormal closure, or atresia of the tubular structure of the intestine.
Intestinal atresia is a broad term used to describe a complete blockage or obstruction anywhere in the intestine, in contrast to stenosis, which refers to a partial obstruction that results in a narrowing of the intestinal lumen.
An abnormal closure, or atresia of the tubular structure of the ileum.
An abnormality of the outflow tract of the left ventricle.
Abnormality of the left ventricular outflow tract
Abnormal left ventricular outflow tract morphology
An abnormality in the amount of volume occupied by intravascular blood.
An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.
An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa.
Recurring inflammation of the paranasal sinuses.
An abnormality of the concentration or function of circulating immune proteins.
Abnormality of immune serum protein physiology
Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.
An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).
An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.
Defective production of NFKB1-dependent cytokines
An abnormality in the production or cellular release of a chemokine (a class of cytokines).
An abnormality in the production or cellular release of interferons (a class of cytokines).
An abnormality in the production or cellular release of interleukins (a class of cytokines).
An abnormality in the production or cellular release of tumor necrosis factor.
Abnormality of tumor necrosis factor secretion
An abnormality of the nasal dorsum, also known as the nasal ridge.
The nasal ridge is the midline prominence of the nose, extending from the nasal root to the tip.
Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.
A saddle-nose deformity can be congenital or acquired (e.g., traumatic) and is associated with structural compromise of the nasoseptal cartilage leading to decreased dorsal nasal structural support. A depression of the dorsum of the nose with loss of nasal tip support and definition, shortened (vertical) nasal length, overrotation of the nasal tip, and retrusion of the nasal spine and caudal septum.
Any morphological abnormality of the skin.
Any abnormality of the physiological function of the skin.
The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.
Abnormal tendency to infections of the skin
An abnormality of the morphology of the epidermis.
An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).
A significant descent of the kidney as the patient moves from the supine to the erect position.
Nephroptosis is diagnosed if the descent of the kidney is greater than 5 cm or two vertebral bodies on intravenous urogram. The kidney is capable of moving back to the normal position, which differentiates it from an ectopic kidney, which constantly remains in an abnormal position. Nephroptosis may be asymptomatic or may cause symptoms including pain and intermittent ureteric obstruction with hydronephrosis, and ischemia due to elongation, narrowing, or kinking of a renal artery.
A type of eczema that occurs in the lips and perioral area.
Perioral eczema mainly affects children.
A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.
Any abnormality of the morphology of the major calices or minor calices of the kidney.
The presence of a rash (change of color and texture) of the perianal skin.
A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.
Note that a confluence of several furuncles results in a carbuncle.
An abnormally increased sensitivity to the effects of ionizing radiation.
Increased sensitivity to ionising radiation
Ionizing radiation can lead to the production of free radicals, break chemical bonds, and damage DNA; RNA, and proteins. Cellular damage related to low doses such as that received from normal background radiation is rapidly repaired under normal conditions.
Increased sensitivity to ionizing radiation
Mild fever that does not exceed 38.5 degree centrigrade.
Absence or developmental hypoplasia of the sweat glands.
Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.
Although the English-language names for uritcaria and non-pruritic urticaria are very similar these are treated as distinct lesions. Non-pruritic urticaria should not be considered to be a subclass of urticaria, because the latter is characterized by pruritus.
An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.
Gastric duplication usually presents as gastric outlet obstruction. They are usually spherical in form, do not communicate with the stomach, and are generally localized at the greater curvature. In some cases they may exhibit adhesion to the pancreas and even communicate with aberrant pancreatic ducts. Gastric duplication is more frequent in females. It is generally either diagnosed in infancy because of symptoms of gastric outlet obstruction or is an incidental finding in adulthood.
A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.
A type of cataract (opacification of the lens) that forms during the course of aging.
Clouding of the lens of the eye with age
The lens is formed from ectodermal tissue and contains epithelial cells that give rise to lens fibres throughout life, so with increasing age the lens becomes more compact and thicker.
A type of age-related cataract that primarily affects the nucleus of the lens.
As the lens ages, new layers of fibres are added and the lens nucleus is compressed and becomes harder (nuclear sclerosis cataract), with associated yellowing of the lens. Nuclear sclerosis typically progresses slowly.
A type of age-related cataract that primarily affects the cortex of the lens.
The cortex of the lens is made of the newest lens fibres. With ageing, discrete opacities can develop within the cortex of the lens that typically cause no visual symptoms unless they involve the visual axis or the entire cortex, in which case the lens becomes white and is said to be mature.
A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.
Age-related posterior subcapsular cataract
A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.
While all patients with epilepsy experience seizures, not all individuals with seizures have epilepsy. One or more epileptic seizures may occur in the context of a brain insult (systemic, toxic, or metabolic). These events (defined acute symptomatic seizures, provoked seizures, or situation-related seizures) are presumed to be an acute manifestation of the insult and may not recur when the underlying cause has been removed or the acute phase has elapsed.
A typical absence seizure is a generalized seizure with abrupt onset and offset of altered awareness which can vary in severity (see specific syndromes). Memory for events during the seizures is usually impaired although there may be some retained awareness particularly for adolescents. Clonic movements of eyelids, head, eyebrows, chin, perioral or other facial parts may occur, most typically at 3Hz. Myoclonus of limbs can rarely occur. Oral and manual automatisms are common and there may be perseveration of behaviors occurring prior to seizure onset.
Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges.
obsolete Absence seizures with special features
Absence seizures accompanied by brief, repetitive, often rhythmic, fast (4-6 Hz) myoclonic jerks of the eyelids with simultaneous upward deviation of the eyeballs and extension of the head. Seizures are typically very brief (less than 6s in duration) and multiple seizures occur on a daily basis. Mostly awareness is retained.
Rhythmic myoclonic jerks of the shoulders and arms with tonic abduction that results in progressive lifting of the arms during the seizure. The myoclonic jerks are typically bilateral but may be unilateral or asymmetric. Perioral myoclonias and rhythmic jerks of the head and legs may occur. Seizures last 10-60 seconds and typically occur daily. Level of awareness varies from complete loss of awareness to retained awareness.
Atypical absence lasting for more than 30 minutes.
Obtundation status is often seen in patients with Lennox-Gastaut-Syndrome.
Typical absence seizures starting before the age of 4 years.
Focal seizures involving musculature in any form.
The motor event can consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.
Focal seizures with an objectively documented and distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor and thermoregularity functions.
An autonomic seizure with altered responsiveness.
Localized autonomic seizures with altered responsiveness
Partial autonomic seizures with altered responsiveness
Focal autonomic seizures with altered responsiveness
An autonomic seizure without altered responsiveness.
Localized autonomic seizures without altered responsiveness
Partial autonomic seizures without altered responsiveness
Focal autonomic seizures without altered responsiveness
A focal sensory seizure involves a sensation being experienced at seizure onset, without objective clinical signs of a seizure evident to the observer.
A type of focal sensory seizure that is characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones.
More complex auditory hallucinations such as voices are considered a focal cognitive seizure. Focal sensory auditory seizures involve auditory cortex in the lateral superior temporal lobe.
Auras with abdominal discomfort including nausea, emptiness, tightness, churning, butterflies, malaise, pain, and hunger; sensation may rise to chest or throat. Some phenomena may reflect ictal autonomic dysfunction.
Auras with taste sensations including acidic, bitter, salty , sweet or metallic tastes.
Auras with sensation of odor, usually disagreeable.
Auras with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.
Events may appear alone or in combination. Included are feelings of depersonalisation. These phenomena have subjective qualities similar to those experienced in life but are recognised by the subject as occurring outside of actual context.
Auras with sensation of tingling, numbness, electric shock sensations, pain, sense of movement, or desire to move.
A sensation consistent with involvement of the autonomic nervous system, including cardiovascular, gastrointestinal, sudomotor, vasomotor and thermoregulatory functions.
Auras with sensation of flashing or flickering lights, spots, simple patterns, scotomata, or amaurosis.
Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments.
Seizures with sustained increase in muscle contraction in parts of the body lasting a few seconds to minutes.
Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.
Seizures with regularly repetitive myoclonus, involving the same muscle groups, at a frequency of about 2-3 c/sec.
Seizures with sudden loss or diminution of muscle tone with a preceding myoclonic or tonic event lasting one to two seconds or more, involving head, trunk, jaw or limb musculature.
Febrile seizures with generalized tonic-clonic semiology, duration less than 15 minutes, and without recurrence within the next 24 hours.
Febrile seizures with focal semiology, duration of more than 15 minutes, or occurring in a cluster of 2 or more convulsions within 24 hours.
Note that semiology refers to the clinical symptoms of an epileptic seizure.
Seizures with a decrease in amplitude and/or rate or arrest of ongoing motor activity.
Seizures with increase in rate of ongoing movements or inappropriately rapid performance of a movement involving predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrashing, rocking movements.
Tonic seizures with a sustained, forced conjugate ocular, cephalic and/or truncal rotation or lateral deviation from the midline.
An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.
EEG background activity at 4-5/second is rare and unusual but not generally pathologic.
EEG dominated by diffuse alpha-waves (8-13Hz).
Alpha-EEG is a rare finding but not generally pathologic.
EEG dominated by diffuse beta-waves (>13 Hz).
Beta-EEG is a rare finding but not generally pathologic.
EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).
A partial beta-EEG is a rare finding but not generally pathologic.
EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).
A low voltage EEG is a rare finding but not generally pathologic.
Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.
Epileptiform EEG discharges include small sharp spikes (SSSs), wicket spikes, 14- and 6-Hz positive spikes, phantom spike and waves, psychomotor variant, subclinical rhythmic EEG discharges of adults (SREDA), and midline theta rhythm.
Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
EEG with hyperventilation-induced focal epileptiform discharges
Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
EEG with hyperventilation-induced generalized epileptiform discharges
EEG discharges recorded in particular areas of the A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
Note that a focal EEG abnormality is not synonymous with "focal epileptiform discharges" because a focal EEG abnormality is not necessarily epileptiform (e.g., it could be a focal slowing).
Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.
Focal epileptiform discharges with limited propagation to contralateral hemisphere
Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.
Focal EEG discharges with propagation to ipsilateral hemisphere
Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.
Focal EEG discharges with secondary generalization
Epileptiform discharges being identified at multiple locations in both hemispheres.
Bilateral multifocal epileptiform discharges
Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.
Uni- and bilateral multifocal epileptiform discharges
Epileptiform discharges being identified at multiple locations in one hemisphere.
Unilateral multifocal epileptiform discharges
Focal epileptiform discharges of different shapes and frequencies.
Polymorphic focal epileptiform discharges
EEG with focal sharp transient waves of a duration less than 80 msec.
Focal spikes occurring for several seconds.
EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with focal sharp transient waves of a duration between 80 and 200 msec.
EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.
EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.
EEG with generalized epileptiform discharges
EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
Generalized epileptiform discharges of different shapes and frequencies.
EEG with generalized polymorphic epileptiform discharges
EEG showing diffuse slowing without interruption.
Non-continuous diffuse slowing of electroencephalographic patterns.
Slowing at frequencies between 7.5 and 8.5 Hz.
EEG with generalized slow activity grade 1
Generalized slowing of EEG activity at frequencies between 4-7 Hz.
EEG with generalized slow activity grade 2
Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.
EEG with generalized slow activity grade 3
EEG with generalized slow activity grade 4
Slowing in occipital areas of the scalp EEG.
Occurrence of epileptiform discharges in occipital regions during photic stimulation.
EEG with photoparoxysmal response grade I
Occurence of epileptiform discharges in occipital and central regions during photic stimulation.
EEG with photoparoxysmal response grade II
Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.
EEG with photoparoxysmal response grade III
Occurrence of generalized epileptiform discharges during photic stimulation.
EEG with photoparoxysmal response grade IV
Hypsarrhythmia occurring in one hemisphere.
An abnormal shape of the frontal part of the head.
Abnormal morphology of the frontal region
Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).
Objective measurement of face height is made with sliding calipers from the nasion, just above the depth of the nasal root to the gnathion, the inferior border of the mandible, both in the midline. Note that short face is distinct from wide face.
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Not to be confused with frontal bossing.
Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.
Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.
Linear vertical groove in the midline of the forehead, extending from hairline to glabella.
In ablepharon, the globe is continuously exposed. It is arguable whether true aplasia of the eyelid exists, or whether this represents severe hypoplasia. Nevertheless, as it is difficult or impossible to make this distinction on clinical grounds, the term was felt to be useful.
Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.
Epiblepharon should be distinguished from entropion.
Absence or underdevelopment of the eyelid.
An abnormal elevation of the C-reactive protein level in serum.
C-reactive protein (CRP) is produced by the liver, and increases in concentration in response to inflammation.
An eyebrow that extends straight across the brow, without curve.
Regional increase in the width (height) of the eyebrow.
Broadening or flaring can be medial or lateral. Flaring is used to describe a widening with a change in direction of the eyebrow hairs.
An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.
The degree of extension beyond the obital rim that is considered abnormal has not been established.
Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.
Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.
Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.
In marked cases this often appears to be associated with lack of lateral protrusion of the antihelix.
No discernible ridge between concha and triangular fossa and helix.
This finding is common in a protruding and cupped ear, where the superior and inferior parts of the antihelix are often absent. This is distinct from partial absence of the antihelix as may occur in, for example, underdeveloped inferior crus of the antihelix.
Supernumerary ridge or crus of the ear arising from the antihelix.
The supernumerary crus usually emanates posteriorly from the antihelix at, or just above, the point of its bifurcation but may have a different origin. In the former case, the finding is termed Stahl ear.
Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.
Increased width of the inferred cross-section of the inferior crus.
This finding is highly variable. The inferior crus is usually sharply folded giving a narrow profile.
Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.
Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.
Antihelix, inferior crus, underdeveloped
Underdeveloped inferior crus of antihelix
Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.
This finding is highly variable. The relative prominence is attributable to either increased volume of the cartilage and/or the acuteness of the folding angle. Interpretation of relative antihelical prominence may be difficult when the conchal anatomy is distorted, for example, with a cupped ear.
Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.
Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.
The degree of prominence of the stem is highly variable and is attributable to the volume of the cartilage and/or the acuteness of the folding angle. Interpretation of degree of antihelical prominence may be difficult when the conchal anatomy is distorted, e.g., in cupped ear.
An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.
Abnormality of anterior crus of antihelix
The inferior antihelical crus runs in an anterior and slightly superior direction, and is usually sharply defined, and appears less variable than its superior counterpart. A synonym is anterior crus of the antihelix.
Abnormality of inferior crus of antihelix
An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.
An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.
Abnormality of posterior crus of antihelix
Abnormality of superior crus of antihelix
Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
This finding is highly variable. There may be an inverse relationship between the relative sizes of the superior and inferior crura, but these findings should be coded separately.
Underdeveloped superior crus of antihelix
Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.
Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).
Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
The size of the antitragus is highly variable.
Double rather than single peak of the antitragus.
Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.
Invagination of the superior part of the auricle under a fold of temporal skin.
There are associated anomalies of the upper antihelix and crura. The upper one-third of the auricle is primarily affected and there is an inferomedial displacement of the Helical Darwin tubercle. Two types are recognized. Type I: the antihelix and superior crus are reduced in size; type II: it is the antihelix and inferior crus that are affected.
A type of cryptotia associated with reduction in size of the antihelix and superior crus.
A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.
Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.
Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.
Curving course of the crus of the helix, approaching or joining the antitragus.
The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.
Widening, rather than tapering, of the crus at its posterior border near the antihelix.
Expanded terminal portion of crus of helix
Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.
Small expansion of the helical fold at the junction of the superior and descending portions of the helix.
Linear, circumferential indentation in the convexity of the outer surface of the helix.
The crimp is usually found in the middle third of the descending helix. The helix has the appearance of having been pinched or flattened along its posterior margin. The crimp may distort the free margin of the helix.
Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.
The lobe should be viewed from the front. This feature is distinct from the situation where the entire ear is forward facing and prominent. The lobe normally lies more or less in the same plane as the remainder of the ear. This feature should be distinguished from Uplifted lobe.
Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.
Discontinuity in the convexity of the inferior margin of the lobe.
The cleft is often more visible if the lobe is pulled forward or when seen from behind. Tears acquired from earrings should be distinguished.
Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.
Presence of some auricular structures, but none of these structures conform to recognized ear components.
This malformation is commonly associated with atresia of the external canal, but that anomaly should be coded separately. Complete absence of the ear should be coded as Anotia.
Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.
This appears to be unusual in an otherwise normal ear, and is most often seen in microtia with atretic auditory meatus, but those findings should be coded separately.
Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.
A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.
It is unclear how often, or even whether, this feature which would represent a duplication of mandibular components, occurs. More common occurrences in this region would include preauricular tags and pretragial duplications of hyoid origin.
Increase posterolateral protrusion of the tragus.
Decreased posterolateral protrusion of the tragus.
Abnormally increased variability in the size of erythrocytes.
Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.
Mycobacteria represent a family of slowly growing bacteria, including M. tuberculosis, the agent of tuberculosis, M. leprae, the agent of leprosy, M. avium complex species, and others. Mycobacteria infection can be asymptomatic or not, and are typically difficult to treat with antibiotics.
Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.
Mycobacterium avium complex (MAC) is a group of species including M. avium, M. avium paratuberculosis, and others. Disseminated MAC infections can be seen associated with HIV infection. Pulmonary disease and cervical adenitis are other sequellae of MAC infection.
Recurrent mycobacterium avium complex infections
Vascular abnormalities restricted to skin
Abnormality of the urinary system physiology
A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.
An abnormality of the concentration of hydrogencarbonate in the urine.
Abnormality of urine bicarbonate concentration
An abnormality of calcium concentration in the urine.
Abnormality of urine calcium concentration
An abnormal level of urinary catecholamine concentration.
Any anomaly in the urinary amount of catecholamines, including adrenaline, noradrenaline and L-dopamine.
Abnormality of urine catecholamine concentration
An abnormality of the hindbrain, also known as the rhombencephalon.
The hindbrain consists of two main structures: The pons and the cerebellum.
An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.
A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.
A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.
A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.
EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.
EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.
EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.
EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.
A morphological abnormality of a digit, i.e., of a finger or toe.
A soft tissue prominence of the ventral aspects of the fingertips or toe tips.
The prominence of the finger or toe pads varies throughout life, being greater in neonates and dependent on the state of hydration. This term should not be used if the digit has clubbing. Note that the synonym "fetal fingertip pads" should not be interpreted to mean that the prominent pad necessarily was present in this individual since fetal life. We do not endorse the use of the term "Persistent fetal pads" as this term implies knowledge of the natural history of this finding, which may or may not be known.
The absence of a phalangeal segment of a finger.
The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present and/or the radiographic finding of a remaining phalanx that is similar to a distal phalanx. It may be difficult to determine which phalanx is absent without x-rays and even then, there are circumstances where the missing bone may not be exactly identified (note that no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective will have to be removed. This finding is distinct from Short fingers.
Increased width of the distal segment of a finger.
This term should be reserved for use when the distal digit is significantly broader than the middle part. It should not be used if the digit has Clubbing or Macrodactyly or if the entire finger is broad.
The total absence of the foot, with no bony elements distal to the tibia or fibula.
For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.
The contour of the foot in lateral profile has a convex shape.
This term was established as the convex contour may occur without the prominent heel, which together comprise the bundled term Rocker-bottom foot.
Increased thumb width without increased dorso-ventral dimension.
Note that this term should not be used for thumbs that meet the definition for Macrodactyly.
The absence of a phalangeal segment of a toe or hallux.
The part that is absent may be specified. The "distal" modifier specifies the loss of the distal phalanx; clinically this is defined by the absence of the nail. The "proximal" modifier specifies the loss of the proximal or middle phalanx with the nail still present. It may be difficult to know which phalanx is absent without X-rays and even then, the missing bone may not be identified (note no attempt is made to distinguish missing middle from proximal phalanges). In this situation the location adjective should be removed. Note that this finding is distinct from Short toes, (which are reduced in length but have the normal number of phalangeal segments). Partial absence of the hallux is an alternative term that may be used for the first toe.
Divergence of digits along the anteroposterior axis (in the plane of the sole).
Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
The gradual reduction in girth of the toe from proximal to distal.
A crease that connects the proximal and distal transverse palmar creases.
The crease that connects the two transverse creases should itself be more in the transverse (antero-posterior) than longitudinal (proximo-distal) orientation.
Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.
The proximal transverse (five finger) crease starts on the radial side of the hand near the base of the index finger and extends toward the ulnar side of the palm, but does not reach the ulnar side. In this finding, the crease extends completely to the ulnar margin of the palm.
A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.
The use of the word "fused" is not meant to imply that pathogenetically these nails were separate and merged. This is distinct from a split or cleaved nail, where the two parts of the nails share the same radius of curvature. The involved digits should be specified. It may be associated with underlying syndactylous digits, but these are coded separately.
An abnormality of size or shape of the long bones.
Synostosis affecting only one of the coronal sutures.
Unilateral coronal suture craniosynostosis
Synostosis affecting only the left coronal suture.
Unicoronal synostosis affecting only the right coronal suture.
Synostosis affecting the right and the left coronal suture.
Bilateral coronal suture craniosynostosis
Premature synostosis of both lambdoid sutures.
Premature synostosis of only one lambdoid suture.
Premature synostosis of only the left lambdoid suture.
Premature synostosis of only the right lambdoid suture.
Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.
Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.
If possible, it is preferable to annotate the precise pattern of involvement of the cranial sutures involved in craniosynostosis. This term may be chosen if more information is not available.
Craniosynostosis of all calvarial sutures.
Asymmetry of the anterior part of the skull.
Anterior plagiocephaly may have synostotic or non-synostotic causes.
Asymmetry of the posterior part of the skull.
The fontanelles are the regions in an infant's calvaria that are covered by a thick membrane that normally ossify in the first two years of life.
Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.
Unilateral atrophy of facial tissues, including muscles, bones and skin.
Decrease in size of one side of the face
Unilateral underdevelopment of the facial tissues, including muscles and bones.
Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.
Hypoplasia of depressor angula oris muscle
Asymmetric crying facies is caused by underdevelopment of the depressor anguli oris muscle or compression of one of the branches of the facial nerve.
Excessive amount of hair growth on forehead.
Bilateral temporal scarlike defects, which are said to resemble forceps marks.
An abnormality of the outline, configuration, or contour of the mouth.
An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.
Abnormality of the red part of the upper lip
Malformation of the upper lip vermillion
A subtle unilateral cleft of the upper lip, which may appear as a small indentation.
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.
An abnormality involving the movement of the eye outwards.
The abducens nerve (also known as the sixth cranial nerve or cranioal nerve VI) controls the movement of the lateral rectus muscle of the eye, which moves the eyeball in the outward direction (towards the side of the head).
Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward.
Affected individuals may experience diplopia as well as esotropia or convergent strabismus.
A mild delay in the acquisition of the ability to understand the speech of others.
A moderate delay in the acquisition of the ability to understand the speech of others.
A severe delay in the acquisition of the ability to understand the speech of others.
Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.
An abnormality of the skin that is not localized to any one particular region.
A lesion of the skin that is located in a specific region rather than being generalized.
An abnormality of the skin that is restricted to a particular body region.
An abnormality of the density of hair growth.
Hair that lacks the lustre (shine or gleam) of normal hair.
An abnormality of the distribution of hair growth that is acquired during the course of life.
A congenital abnormality of the distribution of hair growth.
Hair whose growth rate deviates from the norm.
Hair growth rate is normally about 1.25 centimeters per month.
Reduced pigmentation of hair in patches.
Thickening of the epidermal layer of the skin.
Congenital deep dermal melanosis in the sacral area.
Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.
Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.
Absence of the inner ear due to a developmental defect.
Aplasia of the inner ear is usually diagnosed on MR or CT imaging.
Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.
Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.
Incomplete partition of the cochlea type I
Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.
The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration.
Morphological abnormality of the vestibule of the inner ear
Complete absence of the vestibule of the inner ear.
Underdevelopment of the vestibule of the inner ear.
Hypoplasia of the vestibule of the inner ear
Dilatation of the vestibule of the inner ear.
An abnormality of the morphology of the semicircular canal.
Morphological abnormality of the semicircular canal
Underdevelopment of the semicircular canal.
Increased size of the semicircular canal.
An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.
Abnormality of the internal acoustic meatus
Abnormality of the internal auditory canal
Reduction in diameter of the internal auditory canal.
Increased size of the vestibular aqueduct.
Enlarged vestibular aqueduct is commonly seen in Pendred syndrome.
Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.
The cochlear aqueduct surrounds the perilymphatic (periotic duct). Enlargement of the cochlear aqueduct may be seen in POU3F4 X-linked deafness with Gusher.
An abnormality of the function of the inner ear.
The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium.
A structural anomaly of the internal part of the ear.
The inner ear contains the cochlea and the semicircular canals.
Morphological abnormality of the inner ear
Morphological abnormality of the nerves of the inner ear
Underdevelopment of the vestibular nerve.
Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.
An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.
The dorsal column represents an ascending pathway mediating well-localized fine touch and conscious proprioception.
Abnormality of the dorsal column of the spinal cord
Reduced muscle tone secondary to an abnormality of the central nervous system.
An abnormality of myelination of nerves in the central nervous system.
In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality.
Delayed myelination in the peripheral nervous system.
Demyelination of peripheral sensory nerves.
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.
Short-limb dwarfism identifiable during childhood
Childhood onset short-limb short stature
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.
Short-trunk dwarfism, identifiable in infancy
Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.
Moderate intrauterine growth retardation
Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).
Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately.
Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.
Adelivery in which additional maneuvers are required to deliver the fetus after normal gentle downward traction has failed.
An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.
Separation of the placenta from the uterus wall before delivery.
The age group when the cessation of life happens.
Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).
An abnormality of chloride homeostasis or concentration in the body.
An abnormally increased chloride concentration in the blood.
An increased consentration of zinc in the blood.
An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.
The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (pmid:16100637).
Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (pmid:16100637).
There is agreement that ultrasound characteristics of CPC, such as bilaterality, size, number, complexity, and resolution, are not related to the risk of aneuploidy. However, cysts with diameters less than 5 mm may not be linked with trisomy and large cysts in excess of 10 mm may impart a higher risk.
The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vemis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (pmid:16100637).
A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637).
A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (pmid:16100637).
Short fetal long bone in upper arm length
On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (pmid:16100637).
Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (pmid:16100637).
An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.
An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
High maternal serum chorionic gonadotropin
An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.
Low maternal serum chorionic gonadotropin
An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.
An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.
A medical history of a fetus or child born to a mother with an autoimmune disease.
Maternal autoimmune diseases with potential adverse effects for the fetus include autoimmune forms of hyperthyroidism and hypothyroidism, myasthenia gravis, systemic lupus erythematodes, and autoimmune forms of thrombocytopenia.
A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.
Commonly encountered maternal teratogens include alcohol, antiepileptic drugs, antihypertensive and antithyroid medications, aspirin, bisphosphonates, chemotherapy, monoclonal antibodies, ionizing radiation, recreational drugs, and serotonin-specific reuptake inhibitors (a class of antidepressants).
Rhabdomyolysis induced by intake of alcohol.
An abnormality of the medulla oblongata, the lower half of the brainstem.
The medulla oblongata, which is often referred to simply as the medulla, comprises the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures.
An anomaly of the control or production of movement in the central nervous system.
A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.
A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.
Athetoid cerebral palsy is caused by damage to the basal ganglia.
Cognitive, psychiatric or memory anomaly.
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.
Hyposegmentation of neutrophil nuclei in peripheral blood
Hyposegmented cells are neutrophils with fewer than three nuclear lobes.
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Ankle clonus is generally caused by corticospinal disease.
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.
A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Small head circumference present at birth
Decreased head circumference present at birth
Head circumference small for gestational age
An abnormality of the function of the middle ear.
Functional abnormality of the middle ear
The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube.
An abnormality of the incus, an ossicle in the middle ear.
An abnormality of the malleus, an ossicle in the middle ear.
This term refers to the loss of eyelashes that were previously present.
Common causes of loss of eyelashes include inflammation, autoimmunity, tumors,endocrine disorders, drugs and medications, and a number of congenital conditions.
The presence of a carcinoma of the esophagus.
Onset of disease at up to 8 weeks of gestation.
Onset prior to birth but after 8 weeks of gestation.
Onset of disease at the age of between 16 and 40 years.
Onset of disease at the age of between 1 and 5 years.
This term refers to ages up to but not including the fifth birthday (see Juvenile onset).
A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.
A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.
Absence or underdevelopment of the gallbladder.
A developmental defect in which the gallbladder fails to form.
Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.
Feeding problem necessitating nasogastric tube feeding.
This is a severe form of feeding problems in infancy.
Feeding problem necessitating gastrostomy tube feeding.
This is an extremely severe form of feeding problems in infancy.
Abnormal shape of small intestinal villus
Abnormality of small intestinal villus morphology
The enteric villi are atrophic or absent.
Small intestine biopsy shows villous atrophy
Sensorineural hearing impairment with childhood onset.
Childhood onset sensorineural hearing impairment
Persistence of the stapedial artery, which normally regresses during embryonic life.
Complete loss of hearing related to a sensorineural defect.
Profound sensorineural hearing impairment
In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.
In most cases, paramedian lesions in the medulla oblongata or the midbrain are found, for example, in patients with multiple sclerosis, brainstem ischemia or tumors, or Wernicke's encephalopathy.
Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.
True anophthalmia implies an early failure of eye development.
An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.
A developmental anomaly characterized by abnormal smallness of one eye.
An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.
Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.
Adhesions between the iris and the cornea.
Anterior synechiae of the anterior chamber
Adhesions between the iris and the lens.
Posterior synechiae of the anterior chamber
Developmental abnormality in which the lens and cornea are not separated.
An abnormal anteroposterior thickness of the cornea.
A increased anteroposterior thickness of the cornea.
Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.
Abnormal migration of corneal endothelium.
Can be seen in posterior polymorphous corneal dystrophy.
Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
A reduction in the number of corneal endothelial cells.
Reduced number of corneal endothelial cells
An abnormality of the stroma of cornea, also known as the substantia propria of cornea.
Reduced transparency of the central portion of the corneal stroma.
Generalized reduced transparency of the stroma of the cornea.
Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.
Ingrowth of new blood vessels into the cornea.
New blood vessels, which sprout from the capillaries and venules of the pericorneal plexus, may block light, compromise visual acuity, and lead to inflammation, corneal scarring, and edema. Corneal neovascularization may be a consequence of corneal hypoxia. Neovascular patterns can be separated into three clinical groups: deep neovascularization overlying Descemet's membrane (seen in herpetic and luetic interstitial keratitis), stromal neovascularization (as a result of stromal keratitis), and vascular pannus (from ocular surface disorders).
New growth of vessels on the surface of the iris.
A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.
A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.
Aplasia of the fovea can occur in aniridia and albinism.
Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.
Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.
CME can occur with Irvine-Gass syndrome and other disorders.
Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.
This is a common symptom of the degenerative maculopathy wet age-related macular degeneration.
Pale often indistinct lesions of the macula.
A macular hole is a small break in the macula, located in the center of the retina.
Increased amount of pigmentation in the macula lutea.
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.
Splitting of the retina in the macular region.
This abnormality can be seen in X-linked retinoschisis.
A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.
The lesions are variable in size and location, and frequently follow the course of a major retinal vein. Epiretinal membranes are a common feature. In contrast to retinal capillary hemangiomas, cavernous hemangiomas lack prominent feeder vessels, intraretinal exudate, and surrounding subretinal fluid. Because the fundoscopic features are characteristic, diagnosis can generally be made based upon clinical appearance.
An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.
Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.
A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.
The end stage of cone degeneration is rod monochromacy, also called achromatopsia, in which vision is mediated exclusively by rod photoreceptors. Rod monochromacy can also be manifest from birth and can be due to congenitally absent or dysfunctional cone photoreceptors. There is no rod counterpart to cone degeneration; all rod photoreceptor degenerations have a secondary loss of cones and are categorized as retinitis pigmentosa.
The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.
There are three differing forms of cone monochromacy, named according to the residual functioning cone class, (1) blue cone (S-cone) monochromacy, green cone (M-cone) monochromacy, and red cone (L-cone) monochromacy.
Individuals affected by dichromacy possess only two types of cones, instead of three.
The three types of dichromacy (protanopia, deuteranopia, and tritanopia) are named according the cone photopigment that is missing.
Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.
Because the spectral sensitivities of individuals with anomalous trichromacy are shifted compared to normal, they mix the primary colors in different proportions.
A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.
Note that protanomaly and deuteranomaly are both associated with difficulties distinguishing red and green.
Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.
Blue and red cones only; no functional green cones.
Blue and green cones only; no functional red cones.
An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.
Malignant tumor of melanocytes affecting the iris.
A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.
Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.
Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.
Single isolated congenital hypertrophy of retinal pigment epithelium
Solitary congenital hypertrophy of retinal pigment epithelium
Sharply demarcated hyperpigmentation which is congenital.
Bilateral multiple CHRPE is strongly associated with familial adenomatous polyposis coli.
Multiple bilateral congenital hypertrophy of retinal pigment epithelium
A retinal hole can be asymptomatic or can lead to the sudden appearance of many floaters or flashes, blurry, or wavy vision, or of a a dark shadow or curtain in the peripheral visual field.
Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.
A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.
The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.
Abnormality of the spatial relationship of the cardiac segments to other components of the heart.
Abnormal spatial orientation of the cardiac segments
Abnormality of the spatial relationship of the atria to other components of the heart.
Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.
In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.
Left and right hand side atria have left atrial morphology.
Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.
Common atrium without defining morphologic features.
The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.
Congenitally corrected transposition of the great arteries
Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.
Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.
Criss-cross atrioventricular valves with superior-inferior ventricles
Superior-inferior ventricles without criss-cross atrioventricular valves
A deviance in the normal connections between two cardiac segements.
Discordant connection of the cardiac segments
Abnormal connection of the cardiac segments
An abnormality of the circulatory connection between atria and ventricles.
A defect where there is no connection between the left atrium and left ventricle.
Absent left sided atrioventricular connection
A defect where there is no connection between the right atrium and right ventricle.
Absent right sided atrioventricular connection
Univentricular heart with absent left sided atrioventricular connection
Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
Right sided atrium to left ventricle and absent left sided atrioventricular connection
With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).
Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.
The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.
Double inlet atrioventricular connection
The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.
The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.
The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.
Double inlet to single ventricle of indeterminate morphology
Double inlet to single ventricle with common atrioventricular orifice
Double inlet to single ventricle with two atrioventricular valves
A congenital defect with failure to open of the mitral valve orifice.
An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.
Straddling and overriding atrioventricular valves usually occur in combination.
Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.
An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.
The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries.
Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.
Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.
A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.
Cor triatriatum dexter is a Latin phrase meaning that the heart (cor) has three atria (triatriatum) whereby the 'third' atrium is on the right (dexter) side.
An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.
The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.
In about 50% of Double orifice mitral valve (DOMV) cases, valvular function is normal, others present with stenosis or regurgitation. In most cases, a larger orifice is accompanied by a small eccentric accessory orifice, and some show duplicated mitral valves. Embryologically, the lesion results from abnormal leaflet fusion and persistence of the left part of the common atrio-ventricular canal.
Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.
Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.
A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.
Membranous supravalvular mitral stenosis
Congenital defect characterized by underdevelopment of the tricuspid valve.
An atrioventricular valve that has failed to open (atretic).
A tricuspid valve that has failed to open.
Imperforate valve is distinct from atretic valve. The hallmark of an imperforate valve is that it provides potential communication between an atrium and a ventricle. It exists as fused valve leaflets usually possessing their own hypoplastic tensor apparatus. The presence of an imperforate valve may have important surgical implications. Imperforate valve is in contrast to atretic valve with an absent atrioventricular connection. The cornerstone of the diagnosis of an imperformate valve is the identification of a thin mobile membrane between an atrium and a ventrile and the recognition of the tensor apparatus of the valve. In most cases the tensor apparatusis hypoplastic and it maynot be possible to delineate it by echocardiography.
A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.
Intermediate atrioventricular septal defect
Intermediate atrioventricular canal defect
A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.
A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.
Transitional atrioventricular canal defect
Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).
Unbalanced atrioventricular septal defect
Unbalanced atrioventricular canal defect
Abnormally short chordae tendineae of the mitral valve.
The chordae tendineae connect the papillary muscles to the tricuspid valve and the mitral valve in the heart.
Short chordae tendineae of the mitral valve
A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.
Displacement of the heart outside the thoracic cavity and into the abdomen.
A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.
This type of ectopia cordis presumably represents a retention of the heart in its embryonic position in the neck.
A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.
Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.
Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.
In many cases, thoracicoabdominal ectopia cordis is characterized by partial absence or cleft of the sternum, deficiency of the anterior diaphragm, deficiency of the diaphragmatic pericardium, midline abdominal wall defect, and congenital intracardiac abnormalities. These five characteristics comprise the pentalogy of Cantrell.
A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.
The normal aortic arch crosses the left mainstem bronchus and descends in the left paravertebral gutter. The coronary arteries arise from the aortic sinuses. The first branch of the aorta is normally the right brachiocephalic artery, then the left common carotid artery, then the left subclavian artery. Abnormal branching refers to any deviance from the norm of the origin or course of these branches or the proximal vertebral arteries. An anomaly of the aortic arch that results in complete encirclement of the trachea and oesophagus by vascular structures is a vascular ring.
Abnormal branching pattern of the aortic arch
The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.
The left common carotid artery has a common origin with the innominate artery.
Commonly the three great vessels (innominate artery, left common carotid artery, and the left subclavian artery) originate from the arch of the aorta. The second most common variant of aortic arch branching occurs when the left common carotid artery has a common origin with the innominate artery.
Common origin of the right brachiocephalic artery and left common carotid artery
A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).
Left aortic arch with cervical origin of the right subclavian artery
The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.
Left aortic arch with isolated subclavian artery
A patent ductus arteriosus or ductal ligament completes the ring.
Left aortic arch with retroesophageal diverticulum of Kommerell
Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.
Right aortic arch with retroesophageal diverticulum of Kommerell
Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.
Left aortic arch with retroesophageal right subclavian artery
The ring may be completed by the ductal ligament.
Left aortic arch with right descending aorta and right ductus arteriosus
Right aortic arch with left descending aorta and left ductus arteriosus
Right aortic arch with aberrant left subclavian artery
Right aortic arch with anomalous left subclavian artery
Right aortic arch with retroesophageal left subclavian artery
Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.
Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.
Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.
Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.
Defect or defects of the morphogenesis of the aorta and pulmonary arteries.
Congenital malformation of the great arteries
A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.
A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.
Congenitally corrected transposition of the great arteries with ventricular septal defect
obsolete Transposition of the great arteries with intact ventricular septum
obsolete Transposition of the great arteries with ventricular septal defect
Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.
Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.
Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.
Non-continuity of the arch of aorta with an atretic point or absent segment.
Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.
Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.
Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.
An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.
Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.
An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.
An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.
Pulmonary situs ambiguus with bilateral morphologic right lungs
An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.
Pulmonary situs ambiguus with bilateral morphologic left lungs
An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.
A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.
Left ventricular - right atrial communication
Echocardiography may visualize a jet across a small defect between left ventricle and right atrium.
A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.
Atrioventricular canal type ventricular septal defect
The muscular septum is a nonplanar structure that can be divided into inlet, trabecular, and infundibular components. The inlet portion is inferioposterior to the membranous septum. It begins at the level of the atrioventricular valves and ends at their chordal attachments apically.
The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.
A muscular ventricular septal defect located at the apex of the heart.
Apical muscular ventricular septal defect
A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.
Multiple muscular ventricular septal defects
Right pulmonary venous return to the inferior vena cava.
Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinutubular junction to the cavity of the left, or (less commonly) right ventricle.
A developmental defect of the pericardium with congenital onset.
No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.
No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.
Complete diaphragmatic absence of pericardium
No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.
Complete right sided absence of pericardium
A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.
A congenital anomaly and not the result of a pericardectomy.
Partial right sided absence of pericardium
A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.
Absent lining around of left side of heart
Complete left sided absence of pericardium
A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.
Partial left sided absence of pericardium
Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.
Partial diaphragmatic absence of pericardium
Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.
A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.
Anomalous origin of coronary artery from the pulmonary artery
Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.
Anomalous left coronary artery from the pulmonary artery
In this anomaly the function of the LMCA territory often requires extensive collateral formation from the RCA, which is often dilated. In the first month of life, physiologic pulmonary hypertension tends to preserve anterograde flow within the left coronary artery, and infants are usually asymptomatic. As pulmonary pressure drops, left-to-right shunting from the higher pressure left coronary arterial system to the lower pressure pulmonary arterial system occurs, and patients become symptomatic. Imaging findings may include markedly dilated collateral arteries and coronary veins.
Anomalous origin of left coronary artery from the pulmonary artery
Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.
Anomalous origin of right coronary artery from the pulmonary artery
The presence of a single coronary artery ostium from which both coronary arteries arise.
A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.
Coronary artery fistulas are congenital malformations. This term does not apply to surgical fistulas.
An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.
An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.
A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.
Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.
Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.
Juxtaductal coarctation usually presents when the ductus arteriosus closes.
Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.
Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.
Patent ductus arteriosus after birth at term
Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.
Patent ductus arteriosus after premature birth
The presence of both a left and a right ductus arteriosus.
A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with doubly committed VSD and pulmonary stenosis
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
Double outlet right ventricle, doubly committed ventricular septal defect
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with non-committed VSD and pulmonary stenosis
Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with non-committed VSD without pulmonary stenosis
Double outlet right ventricle, noncommitted ventricular septal defect
Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with subaortic VSD and pulmonary stenosis
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with subaortic VSD without pulmonary stenosis
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with subpulmonary VSD and pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.
DORV with subpulmonary VSD without pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.
Tetralogy of Fallot with absent pulmonary valve syndrome
Tetralogy of Fallot with absent pulmonary valve
Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.
Origin of a pulmonary artery from the aorta is also known as hemitruncus. One pulmonary artery branch, usually the right, arises from the ascending aorta just above the aortic sinuses, while the main pulmonary artery and the other pulmonary branch arise in their normal position from the right ventricle.
Anomalous origin of one pulmonary artery from ascending aorta
The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.
Anomalous origin of left pulmonary artery from ascending aorta
Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
This feature is most often seen in the disease arrhythmogenic right ventricular cardiomyopathy (ARVC). ARVC is defined histologically by the presence of progressive replacement of right ventricular myocardium with adipose and fibrous tissue often confined to a triangle of dysplasia comprising the right ventricular inflow, outflow, and apex. While these pathologic abnormalities can result in functional and morphological right ventricular abnormalities, they also occur in the left ventricle, producing a DCM phenotype, or can be present in the absence of clinically detectable structural changes in either ventricle. For the purposes of this classification, ARVC is defined by the presence of right ventricular dysfunction (global or regional), with or without left ventricular disease, in the presence of histological evidence for the disease and/or electrocardiographic abnormalities in accordance with published criteria.
Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.
Left ventricular non-compaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy (LVNC), also known as spongy myocardium, is a distinct form of cardiomyopathy occurring in-utero when segments of spongy myocardium fail to transform into compact, mature musculature resulting in prominent myocardial trabeculae, deep intra-trabecular recesses, and decreased cardiac function. It has been proposed that LVNC results from arrest of the compaction process during the second month of embryological development.
Left ventricular noncompaction cardiomyopathy
Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.
Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.
The superior vena cava is formed by the left and right brachiocephalic (innominate) veins, which receive blood from the arms, head and neck.
Bilateral superior vena cava with bridging vein
Bilateral superior vena cava with no bridging vein
A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.
Left superior vena cava draining directly to the left atrium
A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.
Left superior vena cava draining to coronary sinus
Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.
Interrupted inferior vena cava with azygous continuation
A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber.
Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.
A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumour size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Tetralogy of Fallot with absent subarterial conus
Tetralogy of Fallot with atrioventricular canal defect
A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).
Major aortopulmonary collateral arteries (MACPAs) are arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped. That is, the blood supply to the lungs derives from the aorta rather than from the pulmonary artery.
Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.
Tetralogy of Fallot with pulmonary stenosis
Single ventricle of indeterminate morphology
A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.
Doubly committed ventricular septal defect
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Conoventricular ventricular septal defect
Paramembranous ventricular septal defect
Perimembraneous ventricular septal defect
Ventricular septal defect, perimembranous
Perimembranous ventricular septal defect
Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.
This term can be used in addition to another term describing the morphology of a VSD.
Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.
Non-restrictive ventricular septal defect
The superior vena cava passes below the aortic arch.
The superior vena cava normally crosses superior and anterior to the aorta.
A type of supraventricular tachycardia that originates in the atrioventricular node.
Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.
Supraventricular tachycardia with an accessory connection mediated pathway
Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed becasue it is not seen on the ECG during sinus rhythm.
Supraventricular tachycardia with a concealed accessory connection
An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.
Permanent junctional reciprocating tachycardia
Supraventricular tachycardia with a concealed accessory pathway on the left free wall
Supraventricular tachycardia with a concealed accessory pathway on the right free wall
Supraventricular tachycardia with a concealed accessory pathway on the septum
Supraventricular tachycardia with a manifest accessory pathway
Hemorrhage into the parenchyma of the cerebellum.
Supraventricular tachycardia with a manifest accessory pathway on the left free wall
Supraventricular tachycardia with a manifest accessory pathway on the right free wall
Supraventricular tachycardia with a manifest accessory pathway on the septum
Chronic supraventricular tachycardia predominantly seen in childhood.
Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.
An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.
Abnormal electrophysiology of sinoatrial node origin
Heart rate of greater than 100 beats per minute.
An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
The conduction of the cardiac impulse through the atrioventricular node is manifested in the EKG by the PR interval, which is normally less that 200 milliseconds in adults. Normal values are age-dependent in children, but normal values are less that 160 milliseconds in young children.
An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.
Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).
Mobitz I atrioventricular block is associated with a normal QRS duration.
A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.
Mobitz I atrioventricular block is usually associated with a prolonged QRS duration.
Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.
Atrioventricular dissociation can develop in response to severe sinus bradycardia with AV junctional rhythm or with an enhanced lower (junctional or ventricular) pacemaker that competes with the normal sinus rhythm and exceeds it.
Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.
The Bundle of His conducts the electrical impulse from the atrioventricular node into the ventricles. THe Bundle of His divides into right and left bundle branches. A universal feature of a bundle branch block is a prolongation of the time required for depolarization of a portion of the ventricles, reflected in an abnormality of the QRS complex.
Conduction block in the anterior division of the left bundle branch of the bundle of His.
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.
Libman-Sacks lesions are y typical manifestation of systemic lupus erythematosus.
Abnormal conduction in all three divisions of the intraventricular conducting tissue.
Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.
Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.
The right superior, right inferior, left superior, and left inferior pulmonary veins carry oxygenated blood to the left atrium.
Type 1 total anomalous pulmonary venous connection.
Total anomalous pulmonary venous connection, supracardiac
Supracardiac total anomalous pulmonary venous connection
Type 2 total anomalous pulmonary venous connection.
Total anomalous pulmonary venous connection, intracardiac
Cardiac total anomalous pulmonary venous connection
Type 3 total anomalous pulmonary venous connection.
Infracardiac total anomalous pulmonary venous connection
Type 4 total anomalous pulmonary venous connection.
Total anomalous pulmonary venous connection, mixed
Mixed total anomalous pulmonary venous connection
Defect or defects of the morphogenesis of the right heart identifiable at birth.
Congenital malformation of the right heart
Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.
Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.
THe peroneal muscles (also known as fibularis muscles) originate from the fibula. The peroneal longus and brevis muscles are located on the lateral side of the leg, while peroneal tertius is on the anterior side.
Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.
An abnormality in the range and ease of motion of joints across their normal range.
An abnormality of cortical sensation. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function usually indicates a lesion of a parietal cortex or of the thalamocortical projections to the parietal cortex.
An abnormality of the concentration of cortisol in the blood.
Abnormality of circulating cortisol level
Any structural anomaly of the adrenal glands.
A functional abnormality of the adrenal glands.
A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.
Adrenal insufficiency secondary to a defect in ACTH production.
Adrenocorticotropin deficient adrenal insufficiency
A form of hyperaldosteronism caused by a defect within the adrenal gland.
Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.
Corticotropin-releasing hormone deficient adrenal insufficiency
Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.
Corticotropin-releasing hormone receptor (CRHR) resistance
Corticotropin-releasing hormone receptor defect
A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.
Familial primary hyperaldosteronism type 1
Glucocorticoid-remediable familial primary aldosteronism
Dexamethasone-suppressible primary hyperaldosteronism
A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.
Familial primary hyperaldosteronism type 2
Glucocortocoid-insensitive primary hyperaldosteronism
A form of hyperaldosteronism caused by abnormally increased renin levels.
Abnormal anatomical location of the adrenal gland.
Absent development of the adrenal gland.
Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.
An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.
An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.
An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.
Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.
This term refers to increased production of ACTH. If additionally hypercorticolism is present, this should be coded separated with HP:0011744.
A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.
An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.
Abnormal development of the neurohypophysis during embryonic growth and development.
A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.
An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.
Absence of the neurohypophysis owing to a developmental defect.
Underdevelopment of the neurohypophysis.
A type of pituitary adenoma that produces gonadotropins.
A type of pituitary adenoma that produces growth hormone.
A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.
A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).
A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.
A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.
A structural abnormality of the parathyroid gland.
Abnormality of the parathyroid morphology
A functional abnormality of the parathyroid gland.
Abnormality of the parathyroid physiology
Abnormal embryonic development of the parathyroid gland.
An abnormal anatomical location of the parathyroid gland.
A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.
A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.
A structural abnormality of the thyroid gland.
Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.
Absence of a lobe of the thyroid gland related to a failure of its embryologic development.
An abnormal growth of parafollicular (C-cells) cells.
Thyroid C cell hyperplasia usually occurs before the development of familial forms of medullary thyroid cancer and is considered a pre-cancerous condition.
Thyrotoxicosis from ectopic thyroid tissue
Thyrotoxicosis with toxic multinodular goitre
Thyrotoxicosis with toxic single thyroid nodule
A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.
An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
Thyroid-stimulating hormone receptor defect
Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.
Activating thyroid-stimulating hormone receptor defect
Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.
Inactivating thyroid-stimulating hormone receptor defect
Neoplasm categorized according to type of histological abnormality.
Neoplasm categorized according to the anatomical site of origin of the neoplasm.
The presence of an embryonal neoplasm of the kidney that primarily affects children.
Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).
Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).
A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.
A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.
Renal oncocytoma is seen in Birt-Hogg-Dube syndrome (OMIM 135150).
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
This is a bundled term, but as it is useful in practice it is kept here. If it is only an indentation or cleft of the nasal tip, this should be coded as Bifid nasal tip.
A functional abnormality of a skeletal muscle.
A structural abnormality of a skeletal muscle.
Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.
Decreased intensity of the patellar reflex (also known as the knee jerk reflex).
A type of myotonia that worsens with repeated muscle contractions.
In classic myotonia the myotonia improves as muscles warm up, whereas in paradoxical myotonia (paramyotonia) it worsens with repeated muscle contractions.
A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.
A normal individual can sense about a 3 mm separation of points on the fingertips.
A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.
Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).
Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.
An increased level of hypoxanthine in the urine.
A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.
A cephalocele is a rare birth defect that is characterized by a sac-like mass protruding through a defective opening in the skull. The sac varies in size that typically consists of herniated meninges and brain tissue (meningoencephalocele or encephalocele) or fragments of disorganized neural tissue. Alternatively, the sac may contain only the meninges (cranial meningocele) or it may include part of the ventricle filled with CSF (encephalocystocele) covered by skin (from PMID:24931720).
An encephalocele located between bregma and lambda.
Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.
The skull base is made up of the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae.
A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.
Often, submucous cleft palate is associated with bifid uvula, but this should be coded separately. The muscles of the soft palate may not function properly, leading to speech problems, middle ear disease, and swallowing difficulties.
Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.
An abnormality of one or more of the set of bones that make up the facial skeleton.
The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer.
Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.
Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.
H-shaped crease in the fat pad of the chin.
The H-shape must be distinguished from Vertical crease of the chin.
Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.
A tented philtrum may accompany a Smooth philtrum. If present this should be coded separately.
Narrow ridge in the midline of the philtral groove.
Absence of the usual parallel position of philtral ridges.
Hajnis [1972] has described downwards convergent, downwards divergent (trapezoid or triangular), convex (ovoid), and concave philtral configurations. Any of these findings may be coded using this term.
Pit in the midline of the philtral groove.
Although congenital sinuses of the lips generally occur in the lower lip, in rare instances they may appear in the philtrum of the upper lip, commonly close to the insertion of the columella.
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.
Decreased horizontal dimension of philtrum
Decreased transverse dimension of philtrum
Nasal tip positioned to one side of the midline.
There is no specific minimal angle before the tip can be determined to be deviated. The assessment of a mild degree of deviation is highly dependant on the experience of the observer. A deviated nasal septum can accompany a deviated nasal tip.
Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available.
Positioning of the nasal tip inferior to the nasal base.
This finding is often associated with a long nasal ridge. It is best appreciated in profile. This may also coexist with a Depressed nasal tip and Low insertion of the columella and should be coded separately.
A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.
Cerebral angiography shows puff-of-smoke (moyamoya) collaterals at the base of the brain.
Delayed maturation and calcification of the talus.
Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.
Localized thickening and tightness of the skin of the fingers or toes.
A deviation from the normal count of T cells.
A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.
If untreated, ventricular flutter typically progresses to ventricular fibrillation.
An abnormality of the form, structure, or size of the skeletal system.
An abnormality of the function of the skeletal system.
An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.
Abnormal appendicular skeleton morphology
Short (hypoplastic) second metatarsal bone.
A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.
A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.
A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.
Colicky abdominal pain can be caused by kidney stones and gallstones, among other etiologies. This type of pain is thought to be caused by spasm, obstruction, or distension of any of the hollow viscera of the gastrointestinal system.
Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification.
Accumulation of blood within the pericardial sac.
Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.
Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.
Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.
Abnormal accumulation of fluid leading to swelling of the pharynx.
An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.
A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.
Plasmacytoma often generalizes to multiple myeloma over the course of several years.
Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.
Severe deficiency of factor IX underlies hemophilia B.
A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.
This finding is characteristic of Strudwick type of spondyloepimetaphyseal dysplasia.
Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.
Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.
Abnormal bone collagen fibril morphology
Any anomaly in the formation of the bony substance of the sternum.
Sternal ossification center abnormalities
The sternum develops from two cartilaginous bars, situated one on either side of the median plane and connected with the cartilages of the upper nine ribs of its own side. During development, the two cartilaginous bars fuse with each other to form the cartilaginous sternum. This in turn is ossified from six centers: one in the manubrium, four in the body of the sternum, and one in the xiphoid process.
An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.
An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.
Pain in the lower back and hip radiating in the distribution of the sciatic nerve.
Any anomaly in the function of thrombocytes.
Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.
Impaired arachidonic acid-induced platelet aggregation
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
Impaired ristocetin-induced platelet aggregation
Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).
Impaired thrombin-induced platelet aggregation
Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.
Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.
A delay of 5-10 days following administration of heparin is common in patients with no previous (or remote) exposure to heparin, but the drop in platelet count may be precipitous in patients with recent exposure. Heparin-induced thrombocytopenia is caused by antibodies against platelet factor 4.
An anomaly in platelet form, ultrastructure, or intracellular organelles.
Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
Average platelet volume above the upper limit of the normal reference interval.
Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.
Abnormal platelet membrane protein expression
Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.
The glycoprotein Ib-IX-V complex forms a specific platelet membrane adhesion receptor, which binds the adhesive glycoprotein, von Willebrand factor (vWF), in the vessel wall or plasma.
An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.
Acute disseminated intravascular coagulation
Decreased cell membrane concentration of glycoprotein VI.
The glycoprotein VI is a glycoprotein receptor for collagen.
Decreased cell membrane concentration of P2Y12 receptor.
The P2Y12 receptor is activated by ADP and plays a central role in platelet activation.
An anomaly of alpha or dense granules or platelet lysosomes.
Platelets contain two classes of granule: the alpha granules and the dense granules. During platelet activation, the contents of the granules are discharged into the lumen of the open canalicular system, from which they are then released to the extracellular space.
Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.
Bleeding from vessels of the various tissues of the eye.
Bleeding in the anterior chamber of the eye.
Hemorrhage from the vessels of the choroid.
Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).
Significant bleeding or hemorrhage without significant precipitating factor.
Prolonged or protracted bleeding following an invasive procedure or intervention.
Significant maternal haemorrhage/blood loss following deilvery of a child.
Number of leukocytes per volume of blood beyond normal limits.
Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.
Impaired thromboxane A2 agonist-induced platelet aggregation
A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.
Anaemia due to reduced life span of red cells
Anemia due to reduced life span of red cells
Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.
Increased number of neutrophils circulating in blood.
An abnormality of the level of activity of circulating fibrinogen.
Fibrinogen is an essential hemostatic factor that is converted to fibrin (a final product of the hemostatic pathway) by activated thrombin.
Increased concentration of fibrinogen in the blood.
Decreased concentration of fibrinogen in the blood.
Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.
Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.
Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.
Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.
A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.
A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.
Missing radius bone on one side only associated with congenital failure of development.
Abnormally flat shape of the heads of the metacarpal bones.
The metacarpal heads articulate with the proximal phalanges of the fingers.
Abnormal reduction in length affecting all phalanges.
An anomaly of a metacarpophalangeal joint.
Abnormality of metacarpophalangeal joint
An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.
Excessive, increased hair growth located in the lumbar region.
Excessive, increased hair growth located in the thoracic region.
Abnormal calcification in the cardiovascular system.
Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.
Underdevelopment (hypoplasia) of the fifth toe.
Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).
Accumulation of pus in the pleural cavity.
A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.
Transudates result from imbalances in hydrostatic and oncotic forces and are caused by a limited number of recognized clinical conditions such as heart failure and cirrhosis. Less common causes include nephrotic syndrome, atelectasis, peritoneal dialysis, constrictive pericarditis, superior vena caval obstruction, and urinothorax.
A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.
Transudates result from pneumonia, malignancy, thromboembolism, and other causes.
An increased or decreased activity of the mitochondrial respiratory chain.
Abnormal activity of mitochondrial respiratory chain
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex I
A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex III
A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.
Respiratory complex deficiency, ATPase deficiency
Decreased activity of mitochondrial ATP synthase complex
Proximal mislocalization of the big toe from its normal position.
One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.
Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156.
Developmental hypoplasia (shortening) of proximal phalanx of toe.
Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.
Hypersegmentation of proximal phalanx of third finger
An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.
An anomaly of the superior cerebellar peduncle.
Abnormality of the superior cerebellar peduncle
Increased length of the superior cerebellar peduncle.
Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .
Decreased concentration of urate in the urine.
Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism.
A decreased concentration of total carnitine in the blood.
A soft tissue continuity in the A/P axis between fingers 3 and 4.
An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).
Anterior wedging of the 12th thoracic vertebra
An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).
Increased concentration of SO3(2-), i.e., sulfite, in the urine.
Increased concentration of thiosulfate(2-) in the urine.
A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.
Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.
Bronchiolitis obliterans organizing pneumonia
Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.
Note that Bronchiolitis obliterans is not to be confused with the similarly named feature Bronchiolitis obliterans organizing pneumonia.
An infection of the upper or lower respiratory tract.
A history of repeated acute infections of the upper or lower respiratory tract.
Recurrent acute respiratory tract infection
Acute inflammation of the lung due to an infection.
Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.
Lung parenchymal involvement with lymphoma.
Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.
Nodular regenerative hyperplasia of liver
The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.
A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centres are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centres; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.
An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.
A small hole through the whole thickness of the retina.
Retinal perforations can be cause by inflammation, trauma, degeneration, or other factors, and comprise retinal breaks, tears, dialyses, and holes.
Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.
Unilateral hypoplasia of pectoralis major muscle
Focal proliferation of glial cells in the substantia nigra.
Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy.
Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.
History of repeated intermittent involuntary muscle contractions that were painful.
Any deviation from the normal concentration of citrulline in the blood circulation.
Citrulline is an alpha-amino acid that is a key intermediate in the urea cycle.
Abnormal circulating citrulline concentration
An increased concentration of citrulline in the blood.
A reduced concentration of copper in the blood.
Decreased circulating copper concentration
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
An elevated concentration of luteinizing hormone in the blood.
Increased circulating luteinizing hormone level
Elevated circulating luteinizing hormone level
Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.
Vascular beta-amyloid deposition in the walls of small to medium-sized, blood vessels (mostly arterial) of the central nervous system. Cerebral amyloid angiopathy mostly occurs in the sporadic form in the elderly, while rare familial forms occur in younger patients and are generally lead to more severe clinical manifestations. Extracellular deposition of the amyloid protein in the brain is associated with neurologic and physiological disease progression.
An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).
Abnormally low glucose concentration in the cerebrospinal fluid.
Low glucose levels in cerebral spinal fluid
Repeated episodes of sudden-onset and transient lethargy.
Replacement of bone marrow by fibrous tissue.
Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.
The ototoxicity of aminoglycoside antibiotics is related to the destruction of sensory hair cells in the cochlea and vestibular labyrinth.
An increased concentration of catecholamine in the urine.
An increased concentration of homovanillic acid in the urine.
An increased concentration of vanillylmandelic acid in the urine.
An increased concentration of dopamine in the urine.
Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.
Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.
A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.
A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.
Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.
Clay colored stools lacking bile pigment.
Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.
Formation of abnormal bony tissue within muscle tissue.
Formation of abnormal bony tissue within tendon tissue.
Formation of abnormal bony tissue within ligament tissue.
A functional abnormality of neutrophils.
A deviation from the normal range of neutrophil cell counts in the circulation.
An abnormal form or size of neutrophils.
A reduction in the ability of neutrophils to kill bacteria.
Impaired neutrophil bactericidal activity
An abnormality of the interatrial septum.
A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.
Atrial septal aneurysm formation may be secondary to raised interatrial pressure gradients, producing a bulging septal shift toward the low-pressure side. However, it has been also found in patients with normal atrial pressures, suggesting a primary (congenital) malformation.
Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.
Abnormally increased level of blood lactate following a meal.
An increased concentration of glucose in the blood following a meal.
A persecutory delusion of supposed hostility of others.
EEG with generalized sharp transient waves of a duration less than 80 msec.
EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.
Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
See the Glossary of Descriptive Terminology for Ictal Semiology at http://www.ilae.org.
Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.
Auras which reflect ictal dysmnesia such as: feelings as familiarity (deja-vu) and unfamiliarity (jamais-vu).
A subjective feeling that an experience which is occurring for the first time has been experienced before.
A subjective feeling that an experience which has occurred before is being experienced for the first time.
Auras with creation of composite perceptions without corresponding external stimuli involving visual, auditory, somatosensory, olfactory and/or gustatory phenomena.
Auras with an alteration of actual percepts involving the visual, auditory, somatosensory, olfactory or gustatory systems.
EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with focal sharp transient waves of a duration less than 80 msec in the central region.
EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.
EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.
EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.
EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.
Complete dislocation of the lens of the eye.
Aorta descends on right instead of on the left.
The are several types of right aortic arch (RAA). RAA can recognized radiographically by leftward displacement of barium-filled esophagus or of an air-filled trachea. The aortic knob is absent from left side, and the para-aortic stripe returns to left side of spine just above diaphragm.
Persistence of blood flow through the ductus venosus for longer than the normal time after birth.
The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetus. The blood flow through this bypass decreases immediately after birth. Functional closure, which is followed by anatomic closure, is virtually complete within a few weeks of birth.
A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).
Elevated concentration of galactose in the urine.
Elevated concentration of galactose in the blood.
Hypergalactosemia is used here to mean the increased concentration of galactose in the blood. Note that the word galactosemia is occasionally used with the same meaning but more commonly denotes the disease entity called galactosemia caused by mutations in the galactose-1-phosphate uridyltransferase gene (MIM:230400).
Deviation from the normal concentration of ornithine in the blood circulation.
Ornithine is an amino acid produced in the urea cycle by the splitting off of urea from arginine. Ornithine is a naturally occurring, non-proteinogenic amino acid found in meat, fish, dairy and eggs.
Abnormal circulating ornithine concentration
Increased concentration of ornithine in the blood.
An abnormal accumulation of fluid and swelling in the tissues of the larynx.
A benign tumor of the liver of presumably epithelial origin.
An abnormal concentration of a hormone in the urine.
Abnormally increased concentration of cortisol in the urine.
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Presence of a lipoma in the region of the sacrum.
Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.
Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).
Steatocystoma multiplex can present with localized, generalized, facial, acral, or suppurative involvement.
Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.
Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
Corneal guttata are often observed in elderly people and are known to be associated with Fuchs corneal endothelial dystrophy, and also with trauma, congenital glaucoma, and macular dystrophy.
Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.
Abnormal accumulation of fluid and swelling of the stroma of cornea.
A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.
Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.
Seesaw nystagmus can be a manifestation of lesions of the optic chiasma.
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
Inability to elicit tendon reflexes in the upper limbs.
A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.
A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.
A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.
An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.
Hypoglycermia following a meal (or more generally, after intake of glucose).
Reactive hypoglycemia may be the result of an exaggerated insulin response.
A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.
Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).
Malignant tumor of melanocytes of the ciliary body.
The phenotypic presentation of melanomas is often described using the ABCDE mnemomic: A) Asymmetry; B) Borders of the lesion are irregular; C) Color changes from one area of the lesion to another, with shades of tan, brown, or black, and sometimes white, red, or blue; D) Diameter of the lesionis usually larger than 6 mm; E) Evolution of the appearance of the lesion with time. These rules do not, however, apply to every melanoma.
A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.
A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.
A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.
A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.
Excretion of oligosaccharides conjugated to sialic acid in the urine.
Increased urinary sialyloligosaccharides
Urinary excretion of sialylated oligosaccharides
A fluid filled cavity that develops with a bone.
Many bone cysts are asymptomatic. However, larger cysts can make the bone more susceptible to fracture.
Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.
A benign fluid filled simple cyst of bone filled with serous fluid.
Presence of multiple cystic changes in multiple areas or multiple bones.
Increased concentration of disaccharide in the urine.
Excess amount of disaccharides such as mannosyl-N-acetylglucosamine excreted in the urine.
Increased urinary disaccharide excretion
Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.
This feature is often the result of a defect in glycosidase activate. Glycosidases catalyze the release of sugar moieties.
Excretion of excess amounts of aspartylglucosamine in the urine.
An increased concentration of keratan sulfate in the urine.
Keratan sulfate is a a glycosaminoglycan.
An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.
Chondroitin sulfate refers to a class of 10-60 kDa glycosaminoglycan sulfates, which are widely distributed in cartilage.
Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.
Carnitine fundergoes reversible esterification of its 3-hydroxyl group producing acylcarnitine, which can enter the mitochondria with the assistance of specific translocases.
Abnormal circulating acetylcarnitine concentration
An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.
N-acylglycines result from glycine conjugation with exogenous compounds to enhance their excretion in urine. Glycine conjugation is also an effective detoxification system for preventing accumulation of acyl-CoA esters in several inherited metabolic disorders.
An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.
An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder.
A Personality disorder is generally associated with significant problems and limitations in relationships, social encounters, work and school. It is usually manifest since childhood or adolescence and continues throughout adulthood.
A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions.
A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.
Blockade of impulses at a focal site along the course of a motor axon.
Any anomaly of the conduction of motor nerve impulses in the central nervous system.
Nerve conduction velocity in the central motor pathways of the brain and spinal cord can be studied by methods including transcutaneous electrical stimulation of the cortex, cervical cord, thoracic cord and conus medullaris and determination of motor latencies to various muscles. This measure is thought to represent conduction in large diameter fibres in the corticospinal tracts.
Atrophy of the cerebellum affecting primarily the granular cell layer.
An abnormally increased size of the cerebellum compared to other brain structures.
Atrophy of the cerebellum affecting primarily the Purkinje cell layer.
Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.
Ubiquitin-positive cerebral inclusion bodies
Any abnormality of the size of the skeletal muscle cell.
Abnormality of skeletal muscle fiber size
Presence of an increased number of neutrophils in the urine.
An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.
An anomaly in the surface contour of mitochondria.
A deviation from the normal odor of the urine.
Urine does not usually have a strong smell, but the odor may be altered by a number of factors including some diseases. Foul-smelling urine may be due to bacteria that have caused a urinary tract infection. Sweet-smelling urine may be a sign of uncontrolled diabetes or more rarely a disease of metabolism. Liver disease and certain metabolic disorders may cause musty-smelling urine.
An anomaly of the function of the pancreas.
A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.
Abnormality of exocrine pancreas physiology
A function abnormality of the endocrine pancreas.
Abnormality of endocrine pancreas physiology
A deviation from the normal size of the pancreas.
A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.
See Figure 8 in pmid:16714456. Epidermoid cysts arise from ectodermal inclusion during neural tube closure in the 3rd-5th week of embryogenesis. The microscopic cyst lining consists of stratified squamous epithelium supported by an outer layer of collagenous connective tissue. Cystic contents usually include debris, keratin, water, and cholesterol laid down in a lamellar fashion. Epidermoid cysts do not contain dermal appendages.
A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.
See Figure 9 in pmid:16714456. These cysts increase in size by means of glandular secretion and epithelial desquamation. Growth can lead to rupture of the cyst contents, causing a chemical meningitis that may lead to vasospasm, infarction, and even death.
An abnormal accumulation of fluid beneath the skin on the back of the feet.
An abnormal catecholamine concentration in the blood.
Abnormality of circulating catecholamine level
An abnormal concentration of creatinine in the blood.
An abnormally reduced amount of creatinine in the blood.
A deviation from the normal number of mitochondria per cell.
An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.
Disproportionate shortening of the proximal segment of the leg (i.e. the femur).
Increased width of the cross sectional diameter of the fibula.
A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,
Evidence of optic nerve damage can include s optic disc abnormalities (Vertical cup:disc ratio over the 97. 5th percentile in the normal population), visual field defects. The role of increased intraocular pressure (IOP) in glaucoma is debated, but an IOP exceeding the 99. 5th percentile of the normal population may be considered to support the diagnosis.
A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).
An abnormality of the concentration of a glucocorticoid in the blood.
Abnormality of circulating glucocorticoid level
An abnormality of the concentration of corticosterone in the blood.
Abnormality of circulating corticosterone level
Abnormal circulating corticosterone level
A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.
Abnormal circulating creatine concentration
A carcinoma of the endometrium, the mucous lining of the uterus.
Deviation from normal concentration of albumin in the blood.
Elevation in the concentration of albumin in the blood.
Laryngeal carcinoma often is related to a history of smoking and may manifest by hoarseness, a lump in the neck, persistent cough, stridor and other symptoms.
Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.
Increased concentration of methylmalonic acid in the urine.
Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.
Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.
Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.
A cancer arising in any part of the stomach.
Increased concentration of uracil in the urine.
Abnormality of bone marrow stromal cells
An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.
Abnormality of cells of the erythroid lineage
Abnormal erythroid lineage cell morphology
A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Bone marrow biopsy shows erythroid hyperplasia
Bone marrow smear shows erythroid hyperplasia
Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.
Abnormality of cells of the granulocytic lineage
Abnormal granulocytopoietic cell morphology
Abnormal number of granulocyte precursors
Decreased number of granulocyte precursors in the bone marrow.
obsolete Abnormality of cells of the lymphoid lineage
A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.
Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.
Abnormality of cells of the megakaryocyte lineage
Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
Abnormality of multiple cell lineages in the bone marrow
Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.
Decreased quantity of von Willebrand factor.
Reduced quantity of Von Willebrand factor
Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.
Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).
The presence of blood in the pleural space.
Hemothorax may result from hemorrhage in the chest wall, lung parenchyma, heart, or great vessels.
Splitting of the retinal layers in the macula.
An decrease in the level of triglycerides in the blood.
Inability to experience pleasure activities usually found enjoyable.
Reduced ability of the cornea to respond to stimulation.
Corneal sensitivity to touch can be assessed by an aesthesiometer, which measures the corneal touch threshold. Decreased corneal sensation is associated with a decreased corneal reflex (HP:0008000); however, impairment of the corneal reflex can have other causes such as trigeminal nerve compression or a cerebellopontine angle lesion. Well known causes of decreased corneal sensation include Herpes simplex keratitis, neuroparalytic keratitis, leprosy, acoustic neuroma, and absolute glaucoma.
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Hemophagocytosis is a nonspecific phenotypic feature observed in several conditions including hemolytic anemia, malignant disease, infections, and hemophagocytic syndrome (also known as hemophagocytic lymphohistiocytosis, a rare hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated but ineffective immune process).
Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.
A separation (dissection) of the layers of the carotid artery wall.
A separation (dissection) of the layers of the internal carotid artery wall.
The internal carotid begins at the bifurcation of the common carotid, opposite the upper border of the thyroid cartilage, and runs perpendicularly upward. It supplies the anterior part of the brain, the eye and its appendages, and sends branches to the forehead and nose. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation.
A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.
Intracranial internal carotid artery dissection
A separation (dissection) of the layers of the external carotid artery wall.
A separation (dissection) of the layers of the common carotid artery wall.
A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.
A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.
The examiner can test for asterixis by asking the patient to extend the arms, spread the fingers, dorsiflex the wrist and observe for the abnormal "flapping" tremor at the wrist. Asterixis represents the failure to actively maintain a position and is caused by the abnormal function of diencephalic motor centers that regulate the tone of the agonist and antagonist muscles involved in maintaining posture.
A developmental defect resulting in the presence of fewer than the normal number of digits.
Repetitive and compulsive picking of skin which results in tissue damage.
A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.
Habitual striking of one's own head against a surface such as a mattress or wall of a crib.
Biting of one's own arms, lip, check, finger etc.
Habitual biting of one's own fingernails.
Habitual clasping and squeezing of the hands.
Habitual repetitive movement of the body.
An increase in heart rate with standing of 30 beats per minute or more.
A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.
Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.
The protein C pathway is a major anticoagulant mechanism that down-regulates the prothrombin- and intrinsic factor X (FX)-activating complexes via inactivation of their respective cofactors, activated factors V (FVa) and VIII (FVIIIa). Cofactor inactivation occurs by limited proteolysis at certain amino acid positions in FVa and in FVIIIa. These reactions are catalyzed by the serine protease activated protein C (APC) and stimulated by the APC cofactor protein S. Functional defects of the protein C pathway determine a plasma phenotype known as APC resistance, which is a prevalent and important risk factor for venous thrombosis. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time (aPTT) assay.
An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.
A functional anomaly of the natural killer cell.
Reduced ability of the natural killer cell to function in the adaptive immune response.
A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.
The lesions of cystic medial necrosis are not true cysts.
Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.
An entrapment neuropathy is an isolated peripheral nerve injury due to mechanical contriction in a fibrous or fibro-osseous tunnel or to deformation of the nerve by a fibrous band.
A squamous cell carcinoma that originates in the oropharnyx.
Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.
An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.
Increased circulating high-density lipoprotein levels
The major apolipoproteins of HDL are apolipoprotein (apo) A-I and apo A-II, also known as the alpha lipoproteins. Thus, hyperalphalipoproteinemia refers to an elevated concentration of apo A-I and apo A-II.
Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.
Constrictive median neuropathy is the major clinical feature of carpal tunnel syndrome.
An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.
Entrapment neuropathy of the ulnar nerve at elbow
An increased concentration of protoporphyrins in erythrocytes.
Increased erythrocyte protoporphyrin concentration
Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.
A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.
A type of lymphoma that originates in T-cells.
A type of lymphoma that originates in B-cells.
A type of T-cell lymphoma that exhibits malignant infiltration of the skin.
A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.
Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.
An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.
A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.
The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.
A juvenile polyp is a hamartomatous growth that projects from the lining of the intestine. It does not arise from the colonocytes themselves but from the tissues underneath the lining cells.
A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.
According to the International Classification of Headache Disorders (ICHD-II), the diagnosis of cluster headache can be made with at least five attacks fulfilling criteria B-D: B) Severe or very severe unilateral orbital, supraorbital and/or temporal pain lasting 15-180 minutes if untreated. C) Headache is accompanied by at least 1 of the following: (i) Ipsilateral conjunctival injection and/or lacrimation. (ii) Ipsilateral nasal congestion and/or rhinorrhea. (iii) Ipsilateral eyelid edema. (iv) Ipsilateral forehead and facial sweating. (v) Ipsilateral miosis and/or ptosis. (vi) A sense of restlessness or agitation. D) Attacks have a frequency from 1 every other day to 8/day. Additionally, the headaches cannot attributed to another disorder.
An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.
An increase in the concentration of bile acid in the blood.
A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.
Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.
Any structural anomaly of the acrosome resulting in a round sperm head.
An anomaly of the mobility of ejaculated sperm.
An abnormal reduction in the mobility of ejaculated sperm.
Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.
An abnormal functionality of the kidney.
An anomaly in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
An abnormal reduction in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream.
An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.
The deposition of calcium phosphate microliths within the seminiferous tubules.
An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.
Entrapment neuropathy of suprascapular nerve
Increased concentration of porphobilinogen in the urine.
Increased porphobilinogen (PBG) in urine is pathognomonic of an attack of acute porphyria (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria); the absence of increased urinary PBG in a suspected attack excludes the diagnosis.
A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.
An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.
The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy.
The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).
This feature is a hallmark of sarcoidosis.
Non-caseating epithelioid cell granulomatosis
A type of blistering that affects the skin of the tibial region.
The presence of multiple hemangiomas in the arachnoid.
Persistence of immune complexes in the blood circulation.
Immune complexes are formed of interlocking antigens and antibodies and are normally are rapidly removed from the bloodstream by macrophages in the spleen and Kupffer cells in the liver. If they persist abnormally in the circulation, they may become trapped in various tissues and induce inflammatory reactions.
Failure of development of some deciduous teeth
Failure of development of some primary teeth
The presence of a teratoma in the ovary.
Narrowing of the urethra associated with inflammation or scar tissue.
A urethral stricture may result from surgery, disease, or injury. The term should not be used for a congenital narrowing of the urethra (Consider the term Urethral stenosis, HP:0008661).
A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.
An increased white blood cell count in the cerebrospinal fluid.
A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Blood clot formed within muscle tissue following leakage of blood into the tissue.
Marked decrease in the number of granulocytes.
Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter.
A type of agranulocytosis related to ingestion of a specific medication.
An increased concentration of chloride in the sweat.
Sweat chloride is notably increased in cystic fibrosis, but also in some other diseases.
An increased concentration of urocanic acid in the urine.
Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
Increased circulating chylomicron levels
Increased circulating chylomicron concentration
Absence of transferrin, a protein that transports iron, in the blood.
An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images.
In normal muscle cells, lipid content takes the aspect of small droplets which concentration and size are usually higher in type 1 fibres than in type 2 fibres.
Increased intramyocellular lipid droplets
Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.
Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.
A structural or developmental anomaly of any of the tissues involved in the genital system.
Anomaly of primary or secondary sexual development or characteristics.
Development of the reproductive system is inconsistent with the chromosomal sex.
Sex reversal is present if an XX individual develops phenotypically as a male or if an XY individual develops as a female.
Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
In adults, normal values are 120 to 200 ms long.
An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.
An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.
An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.
ST segment elevation may have multiple causes including myocardial infaction, left ventricular aneurysm, and hyperkalemia.
A structural anomaly of the respiratory system.
Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.
Abnormal respiratory epithelium morphology
A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.
Histologically, Ewing's sarcoma is composed of a homogeneous population of small round cells with high nuclear to cytoplasmic ratios that are arrayed in sheets. There is scant cytoplasms, which is pale, vacuolated and characterized by faded boundaries. In contrast, the nuclei are clearly visualized by their intense color. Mitotic activity is typically low.
An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.
The peripheral microtubules in the canonical 9 + 2 microtubular pattern of motile cilia are studded with dynein arms that contain adenosine triphosphatases and act as molecular motors to effect the sliding of the peripheral microtubular pairs relative to one another.
Dynein arm defect of respiratory motile cilia
Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Absence of the outer dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9 + 2 microtubular pattern of motile cilia studded with dynein arms.
Abnormal axonemal organization comprises anomalies such as an eccentric central pair of microtubuli, abnormal radial spokes and nexin links, reduced number of inner dynein arms, and displacement of the outer doublet.
Abnormal axonemal organization of respiratory motile cilia
Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.
A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
The central microtubular pair is referred to as the central part of axoneme of cilium.
Abnormal central microtubular pair morphology of respiratory motile cilia
Any functional anomaly of the respiratory motile cilia.
Abnormal respiratory motile cilium physiology may include alterations in ciliary beating pattern or frequency.
Abnormal respiratory motile cilium physiology
Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.
Ciliated epithelial cells bear approximately 200 motile (9 + 2) cilia that move with both intracellular and intercellular synchrony. The pattern of beat in 9 + 2 motile cilia occurs in a waveform having a forward effective stroke followed by a return stroke. The direction of stroke is a function of the directional orientation of the central microtubules. In addition to moving in synchrony, individual cilia in normal cells are very plastic and move fluidly, sometimes deforming briefly upon encountering resistance and/or particles being transported over the mucosal surface. Cilia are embedded in a watery periciliary fluid of low viscosity, which facilitates the rapid beat cycle to move the more viscous overlying layer of mucus. Ciliary beat frequency ranges from approximately 8-20 Hz under normal conditions but may be accelerated by exposure to irritants such as tobacco smoke.
Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.
Absent central microtubular pair morphology of respiratory motile cilia
A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.
Typically, but not always, dyskinesia is characterized by markedly attenuated ciliary beat frequency.
A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.
Absence of the radial spokes of the axoneme of the respiratory cilium.
Absent respiratory ciliary axoneme radial spokes
A liposarcoma that contains myxomatous tissue.
Any anomaly in the amount of glycogen in muscle tissue.
Glycogen functions as a secondary short term energy storage in muscle.
A decreased amount of glycogen in muscle tissue.
Intermittent episodes of increased resistance to the passage of air in the upper airway.
The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.
J waves can be seen in hypothermia when the core body temperature falls below 32 degrees C. Then, they occur most prominently in the inferior leads: II, III, and aVF and the precordial leads: V5-V6. J waves can also be observed in other conditions such as some forms of Brugada syndrome.
An increase in the combined thickness of the intima and media of the carotid artery.
This feature can be measured by ultrasonography and is thought to be a risk foctor for myocardial infarction and stroke.
Increased carotid artery intimal medial thickness
A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.
Since the paternally inherited copy of such genes is silenced normally, only a maternally transmitted mutation leads to disease in this kind of inheritance.
Autosomal dominant inheritance with paternal imprinting
A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.
Since the maternally inherited copy of such genes is silenced normally, only a paternally transmitted mutation leads to disease in this kind of inheritance.
Autosomal dominant inheritance with maternal imprinting
Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.
Tenosynovitis refers to inflammation of the protective sheath that surrounds a tendon. Stenosing tenosynovitis, or trigger finger, is diagnosed when a patient presents with a symptomatic locking or clicking of a finger or the thumb. It is caused by a mismatch between the volume of the flexor tendon sheath and its contents. As the flexor tendon attempts to glide through a relatively stenotic sheath, it catches, producing an inability to flex or extend the digit smoothly.
An abnormally reduced concentration of glycine in the blood.
Any deviation from the normal concentration of serine in the blood circulation.
Abnormal circulating serine concentration
Reduced concentration of serine in the blood.
A form of amyloidosis that affects the liver.
Extravasation of chyle into the peritoneal cavity.
An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.
A morbilliform rash is said to resemble the rash of measles, rubella or scarlet fever, thus mimicking viral and bacterial exanthemas.
Reduced size of the Distal epiphysis of femur.
Reduced size of the proximal epiphysis of the tibia.
An abnormal functionality of the hypothalamus.
The hypothalamus is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
Any structural anomaly of the hypothalamus.
The hypothalamus is a cone-shaped cerebral structure that projects downward, ending in the pituitary (infundibular) stalk, a tubular connection to the pituitary gland. It is linked vascularly with the anterior lobe of the pituitary gland and thereby controls the secretion of pituitary hormones.
Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.
Hypothalamic luteinizing hormone-releasing hormone deficiency
A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.
A tumor (abnormal growth of tissue) of the face.
A tumor (abnormal growth of tissue) of the mouth.
A congenital defect with an abnormal joining of the gums of the upper and lower jaw.
An abnormal pigmentation pattern of the external genitalia.
Abnormality of the occipital bone of the skull.
Reduced diameter of the middle phalanx of finger.
Reduced diameter of the distal phalanx of finger.
Reduced diameter of the proximal phalanx of finger.
Increased length of the middle phalanx of finger.
Increased length of the distal phalanx of finger.
Failure of the ureter to undergo development.
Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.
Abnormal isoelectric focusing of serum transferrin, type II pattern
Isoelectric focusing of serum transferrin consistent with CDG type II
Abnormal isoelectric focusing of serum transferrin, type 2 pattern
There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal.
A severe virus infection of the central nervous system by the herpes simplex virus (HSV).
Although infection with HSV is very common in the population, only a miniscule proportion of infected persons develop encephalitis, so that an occurrence of HSV encephalitis is interpreted as a sign of increased susceptibility to HSV.
Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.
Coarctation of the descending aortic arch
An anomaly of the process of rib bone formation.
Ribs that are increased in width and taper to the posterior ends.
This morphological anomaly of the rib has been compared to a canoe panel or a spatula, whence the name.
A reduced level of the complement component C9 in circulation.
The presence of amyloid deposition in the superficial dermis.
An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.
An increased number of circulating monocytes.
An decreased number of circulating monocytes.
Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
Heberden's nodes are nodular deformities at the distal interphalangeal joint of the fingers (usually the middle and index) and are commonly seen in the elderly. The deformity is created by osteophyte formation and synovial thickening at the margin ofan osteoarthritic joint. Significant functional problems are rarely encountered though patients may suffer with stiffness and pain. Surgical intervention is seldom indicated unless there is severe pain or instability. In such cases, a joint fusion may be appropriate.
Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
Heberden's nodes are generally a sign of osteoarthritis.
Any neoplasm composed of fibrous tissue.
Inflammation of the sacroiliac joint, generally accompanied by lower back pain.
A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.
Typically, the pain of occipital neuralgia begins at the base of the head and spreads upward within the distribution of the greater and lesser occipital nerves. Characteristically, it is neuropathic, with paroxysmal episodes of shooting electric shock-like symptoms.
Lack of skin pigmentation (coloring) of the abdomen.
Lack of skin pigmentation (coloring) of the arms and legs.
An increased concentration of 2-hydroxyglutaric acid in the urine.
Inflammation surrounding hair follicles.
Myoclonus that occurs during the initial phases of sleep.
A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.
A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
The celiac artery (celiac trunk or truncus coeliacus) is the first major branch of the abdominal aorta.
This feature may be characterized by abdominal pain related to compression of the celiac artery by fibers of the median arcuate ligament.
An odontogenic tumor of the cementum of tooth.
A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.
An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.
Pyelonephritis may be unilateral or bilateral and is often characterized by abdominal pain, fever, nausea, and vomiting.
A structural abnormality of the autonomic nervous system.
Abnormal autonomic nervous system morphology
A functional abnormality of the autonomic nervous system.
Abnormal autonomic nervous system physiology
An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.
Normally, the cholinergic innervation via the sympathetic nervous system activates muscarinic acetylcholine receptors in sweat glands, thereby leading to perspiration. This terms refers to an abnormally increased or decreased activity of this system.
Impairment of bile flow due to obstruction in large bile ducts outside the liver.
An abnormality of the metabolism of folic acid, which is also known as vitamin B9.
A decreased concentration of 5-methyltetrahydrofolate in the cerebrospinal fluid.
Reduced CSF 5-methyltetrahydrofolate concentration
Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
An anomaly in the processes involved in the maintenance of an internal equilibrium.
Any anomaly in the utilization of energy (calories).
An increase in the number of calories used per unit time.
A reduction in the number of calories used per unit time.
A pituitary prolactin cell adenoma of less than 10 mm diameter.
A pituitary prolactin cell adenoma of more than 10 mm diameter.
Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.
Isolated patches of hardened skin (scleroderma).
An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.
An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.
Essentially, all proteins (except albumin) that travel through the ER-Golgi network undergo N-linked glycosylation. Glycans promote protein folding, stability, trafficking, localisation, and oligomerisation. They play vital parts in cell-cell interactions and intracellular signalling.
A reduction in the amount of galactose residues of N-glycans.
The majority of complex and hybrid N-glycans have elongated branches that are made by the addition of a beta-linked galactose residue to the initiating N-acetylglucosamine to produce the ubiquitous building block Gal-beta-linked1-4GlcNAc, referred to as a type-2 N-acetyllactosamine (LacNAc) sequence.
Decreased galactosylation of N-linked protein glycosylation
An anomaly of the addition of sialic acids to N-linked glycans.
The most common sialic acids is N-acetylneuraminic acid (Neu5Ac).
Abnormal sialylation of N-linked protein glycosylation
Decreased addition of sialic acids to N-linked glycans.
Decreased sialylation of N-linked protein glycosylation
Increased addition of sialic acids to N-linked glycans.
Increased sialylation of N-linked protein glycosylation
An anomaly of the addition of fucose sugar units to N-linked glycans.
Abnormal fucosylation of protein N-linked glycosylation
Decreased addition of fucose sugar units to N-linked glycans.
Decreased fucosylation of N-linked protein glycosylation
Increased addition of fucose sugar units to N-linked glycans.
Increased fucosylation of N-linked protein glycosylation
An anomaly of the addition of mannose to N-linked glycans.
Abnormal mannosylation of N-linked protein glycosylation
Reduced addition of mannose to N-linked glycans.
Decreased mannosylation of N-linked protein glycosylation
Increased addition of mannose to N-linked glycans.
Increased mannosylation of N-linked protein glycosylation
An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.
An anomaly of the addition of fucose sugar units to O-linked glycans.
Abnormal fucosylation of O-linked protein glycosylation
A reduction of the addition of fucose sugar units to O-linked glycans.
Decreased fucosylation of O-linked protein glycosylation
Increased addition of fucose sugar units to O-linked glycans.
Increased fucosylation of O-linked protein glycosylation
An anomaly of the addition of sialic acids to O-linked glycans.
Abnormal sialylation of O-linked protein glycosylation
An reduced addition of sialic acids to O-linked glycans.
Decreased sialylation of O-linked protein glycosylation
A decreased concentration of potassium(1+) in the urine.
An abnormally decreased phosphate concentration in the urine.
Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).
Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.
Extra fontanelles include glabellar, metopic, sagittal (parietal) and cerebellar fontanelles.
Absence of concavity or convexity of the face when viewed in profile.
A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave.
An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla.
The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge.
Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.
Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face
This term represents increased size of the maxilla (upper jaw) in length (increased midface height) or anterior-posterior projection (midface prominence). In the presence of normal mandible size, maxillary prominence may give the appearance of retrognathia.
A structural anomaly of the globe of the eye, or bulbus oculi.
Edema (swelling) of the bulbar conjunctiva.
Partial or complete loss of vision in one half of the visual field of one or both eyes.
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Fatigue is distinct from muscle weakness.
An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme.
Reduced carnitine O-palmitoyltransferase activity, i.e., reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.
Reduced carnitine O-palmitoyltransferase activity
A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).
Delayed self-feeding during toddler years
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.
Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.
Inflammation of the nasal mucosa with nasal congestion.
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.
Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.
Muscular hypotonia of one or more limbs.
A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.
Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.
Reduced intensity of muscle tendon reflexes in jaw.
The jaw jerk is elicited by the examiner placing the tip of the index finger on a relaxed jaw, one that is about one-third open. One then taps briskly on the index finger with the other hand and notes the speed as the mandible is flexed.
An allergy is an immune response or reaction to substances that are usually not harmful.
Allergy to iodine contrast media used in radiological studies.
An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.
A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.
The presence of atheromas or atherosclerotic plaques in the aorta.
An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.
A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.
Pressure ulcers tend to affect persons with reduced mobility who are bedridden or wheelchair-bound.
An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
The reaction catalyzed by aldolase is a component of the glycolysis pathway.
A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.
Abnormality of urine alpha ketoglutarate concentration
Note that alpha-ketoglutaric acid is also known as 2-ketoglutaric acid, alpha-ketoglutaric acid, 2-xxoglutaric acid, and oxoglutaric acid.
Abnormal urine alpha-ketoglutarate concentration
A greater than normal concentration of 2-oxoglutaric acid in the urine.
Increased urine alpha-ketoglutarate concentration
A lower than normal concentration of 2-oxoglutaric acid in the urine.
Decreased urine alpha-ketoglutarate concentration
A deviation from normal of the concentration of citrate(3-) in the urine.
Abnormal urine citric acid concentration
A lower than normal concentration of citrate(3-) in the urine.
A greater than normal concentration of citrate(3-) in the urine.
A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.
Scissor gait is a form of gait abnormality primarily associated with spastic cerebral palsy.
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).
A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.
Pure red cell aplasia results from a maturation arrest occurs in the formation of erythrocytes.
The onset of growth of pubic hair at an earlier age than normal.
Onset of adrenarche at an earlier age than usual.
Adrenarche is an early sexual maturation stage that typically occurs at around 6 to 8 years of age, during which the adrenal cortex begins to secrete increased levels of androgens resulting from the development of the zona reticularis in the adrenal cortex. Note that pubarche refers to the development of pubic hair, axillary hair, and adult sweat gland (apocrine) odor. The physical features associated with pubarche reflect the onset of adrenarche, which refers to the pubertal maturation of the adrenal and is associated with increased secretion of an adrenal hormone called dehydroepiandrosterone sulfate (DHEAS).
The presence of a V-shaped indentation (notch) in the primary central incisor.
Wasting or decrease in size of all or part of the duodenum.
An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.
Abnormally elevated blood carbon dioxide (CO2) level.
Abnormally reduced blood carbon dioxide (CO2) level.
An abnormally low level of blood oxygen.
Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value.
An abnormally high level of blood oxygen.
Note that hyperoxemia is defined as a condition where arterial oxygen tension is above normal (80-100mmHg). Hyperoxia is defined as increased oxygen tension at the tissue level. Hyperoxia is not measured directly by a standard laboratory value.
Amniotic fluid containing the earliest stools of a mammalian infant.
Meconium may be expelled into the amniotic fluid before birth in response to fetal distress. If meconium is aspirated by the fetus, it may lead to meconium aspiration syndrome.
Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.
Absence of the foreskin can be accompanied by Cryptorchidism and Hypospadias, which should be coded separately.
Diffuse villous hypertrophy of choroid plexus
The most common location for overgrowth is the lateral ventricles. The choroid plexus folds into many villi around capillaries, creating frond-like processes that project into the ventricles. The terms choroid plexus hypertrophy or choroid plexus hyperplasia are used interchangeably to refer to an increase in size of these structures. Diffuse villous hyperplasia of choroid plexus (DVHCP) is a rare condition which is characterized by the presence of diffuse enlargement of the entire choroid plexus throughout the length of the choroidal fissure and overproduction of CSF.
The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.
An inflammation of the choroid and retina.
Chorioretinitis is a form of posterior uveitis. Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina.
An ulcer of the colon due to pressure and irritation from retained fecal masses.
Stercoral ulceration is the loss of bowel integrity from the pressure effects of inspissated feces. The lesion usually occurs in constipated, bedridden patients and presents as an isolated lesion in the rectosigmoid area.
Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.
Optic disc drusen can lead to an elevated disc and thus mimic disc swelling (pseudopapilledema).
An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.
Excessive femoral anteversion is a common cause of in-toeing that first presents in early childhood.
Absence or underdevelopment of the cerebral white matter.
Absent/underdeveloped cerebral white matter
Aplasia/Hypoplasia of the cerebral white matter
Underdevelopment of the cerebral white matter.
Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.
Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.
Note that chronic fatigue can be a symptom of chronic fatigue syndrome (CFS), which is characterized by profound fatigue that is not improved by bed rest and that may be worsened by physical or mental activity. Symptoms of CFS may include weakness, muscle pain, impaired memory, impaired mental concentration, and insomnia, which can result in reduced participation in daily activities.
An abnormality of actions or reactions of a person taking place during interactions with others.
A failure to meet one or more age-related milestones of social behavior.
This term should be applied to describe a child whose social development is delayed compared to age-related norms. For instance, at the age of 3 months, a child smiles in response to social interaction, at the age of 7 months, a child responds to the facial expressions of others, and at the age of 12 months a child is shy around strangers.
Reduction in length of the ventral (lower) skin of prepuce of penis.
Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.
Nonocclusive coronary artery atherosclerosis
A structural anomaly of the gallbladder.
A functional anomaly of the gallbladder.
A functional abnormality of the biliary tree.
A structural abnormality of the biliary tree.
Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.
The sphincter of Oddi (also known as sphincter of ampulla) is a muscular valve that controls the flow of bile and pancreatic juice through the ampulla of Vater into the second part of the duodenum. Increased tone of the sphincter or disturbance in the coordination of contraction of the biliary ducts prevents normal emptying of the biliary tree. This may result in biliary pain, common bile duct dilation and episodes of pancreatitis.
Reduced motility of the gallbladder with reduced emptying fraction.
Patients with this gallbladder dyskinesia present with biliary-type pain but no evidence of gallstones in the gallbladder. The diagnosis is made by performing a radionuclide investigation of the gallbladder ejection fraction. An abnormal gallbladder ejection fraction has a value less than 40 percent.
A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.
Partial or complete wasting (loss) of brain tissue that was once present.
A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.
Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.
Inflammation of the synovial membrane of the sacroiliac joint.
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Constipation of sudden onset and lasting for less than three months.
A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).
Restless legs syndrome is a disorder characterized by aching or burning sensations in the legs that occur prior to sleep or may awaken the affected persons. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence.
A chronic loss of wrist joint motion on the right and left sides.
A chronic loss of wrist joint motion on one side only.
Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.
Medial arterial calcification causes stiffening and decreased compliance of the affected arteries.
Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.
Medial calcification of medium-sized arteries
Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.
The general construction of small arteries is very similar to that of muscular arteries. The media is still muscular and has up to 8-10 layers of smooth muscle cells.
A headache disorder that occurs exclusively at night, waking the affected individual from sleep.
Hypnic headache can be unilateral or bilateral, and is often but not always described as throbbing. The pain begins abruptly and can last from 15 minutes to 6 hours, although typically it is about 30-60 minutes.
A structural anomaly of the inferior portion of the vermis of cerebellum.
The urine is normally bacteria-free. The term refers to bacteria from the urinary tract and not to bacteria found in the urine because of contamination from the surrounding tissues. Significant bacteriuria is a sign of urinary tract infection.
Involuntary and irregular twitches of the chin.
An above normal level of saturation of serum transferrin with iron.
Transferrins are iron-binding blood plasma glycoproteins that control the level of free iron in biological fluids. The transferrin saturation test (TSAT) refers to the ratio of serum iron to total iron-binding capacity, expressed as a percentage. Transferrin saturations of less than 20% indicate iron deficiency, while transferrin saturations of more than 50% suggest iron overload. Note that the results of the TSAT can be influenced by inflammation.
A below normal level of saturation of serum transferrin with iron.
An increased level of iron in liver tissues.
This abnormality can be measured by liver biopsy or by hepatic magnetic resonance imaging.
Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).
Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).
Longstanding abnormal acid accumulation or depletion of base.
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.
Setting-sun eye phenomenon can also be transiently elicited in healthy infants up to 7 months of age by changes of position or removal of light (benign setting-sun phenomenon). When persistent, this sign is one of the most frequent markers of elevated intracranial pressure.
Increased width of the skin of vermilion border region of upper lip.
A turning outward of the lip or lips, that is, eversion of the lips.
Complete obstruction of a carotid artery.
Carotid artery occlusion is usually caused by caused by atherosclerosis.
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.
Decreased circulating level of specific antibody
The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.
Specific pneumococcal antibody deficiency
A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.
Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.
Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.
A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.
DVA is characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.
A venous angioma of the frontal lobe of the brain.
Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.
This feature can be observed by electron microscopy. Alpha granules normally contain a number of proteins including von Willebrand factor, and fibrinogen.
Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium , histamine and serotonin.
This feature can be observed by electron microscopy.
An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.
Abnormal surface-connected open canalicular system
An arachnoid cyst located at the margin of the cerebellum and pons.
An arachnoid cyst located within the ventricular system.
Arachnoid cysts very rarely occur within the ventricular system, where no arachnoid tissue exists.
An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.
As the cyst increases in size it fills and occludes the third ventricle, and distorts and blocks the aqueduct, which finally results in hydrocephalus.
Panniculitis most commonly affects the skin and characterized by reddened subcutaneous nodules.
An anomaly of the intracellular membrane complexes known as the dense tubular system.
The dense tubular system (DTS) functions to regulate platelet activation by sequestering or releasing calcium, similar to the sarcotubules of skeletal muscle. In resting platelets, the DTS exists as thin elongated membranes. Within 10 seconds of the addition of thrombin, platelets show a major ultrastructural change in their DTS: from the thin elongated form to a rounded vesicular form.
Narrowing or constriction of the inner surface (lumen) of a cerebral artery.
Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.
Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.
Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.
A decrease in the maximum amount of negative pressure a person can generate during an inhalation.
A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.
A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
According to the Stanford classification, type B aortic dissection begins beyond brachiocephalic vessels (begins distal to the left subclavian artery).
A wartlike (with multiple small elevated projections) papule.
An anomaly of the white matter of brainstem.
Abnormality of the brainstem white matter
An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.
A deviation from the normal size of the pituitary gland.
An abnormally increased size of the pituitary gland.
An abnormally decreased size of the pituitary gland.
Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.
A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.
Thyroxin-binding globulin is known as serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), Entrez Gene ID 6906. Individuals with TBG deficiency are euthyroid.
An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.
Extra-axial cerebrospinal fluid accumulation
A pale yellow discoloration of the temporal (lateral) portion of the optic disc.
Temporal pallor is seen in conditions that selectively affect the papillo-macular bundle. The word temporal refers to the temporal bone at the side of the head.
A pale yellow discoloration of the entire optic disc.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.
Reduced ability to flex the femur, that is, to pull the knee upward.
Hip flexion is mediated by multiple muscles including the iliopsoas, the rectus femoris, the sartorius, and several muscles from the medial compartment of thigh.
An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.
Tetralogy of Fallot with Pulmonary Atresia (TOF/PA) is a complex lesion with many different anatomic variants. The primary source of variability in this lesion is in the anatomy of the pulmonary arteries, with the spectrum ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries and major aorto-pulmonary collaterals (MAPCA's) providing all the pulmonary blood flow. The majority of cases fall somewhere in between these two ends of the spectrum, with the total pulmonary blood flow provided by a combination of diminutive native pulmonary arteries and multiple MAPCA.
Tetralogy of Fallot with pulmonary atresia
An abnormally decreased amount of catalase activity.
Catalase catalyzes the decomposition of hydrogen peroxide to water and oxygen.
An anomaly of the circle of Willis, also known as the cerebral arterial circle.
Abnormality of the cerebral arterial circle
The circle of Willis is a circulatory anastomosis in the brain comprised of the anterior cerebral arteries, the anterior communicating artery, the internal carotid arteries, the posterior cerebral arteries, and the posterior communicating arteries.
Underdeveloped posterior communicating artery.
Hypoplastic posterior communicating arteries
The posterior communicating arteries connect the internal carotid artery just proximal to its bifurcation into the anterior cerebral artery and middle cerebral artery with the posterior cerebral artery. The posterior communicating artery is part of the circle of Willis.
Hypoplastic posterior communicating artery
Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.
Virchow-Robin spaces are commonly seen at magnetic resonance imaging. These perivascular spaces as fluid-filled spaces that follow the typical course of a vessel as it goes through grey or white matter. The spaces have signal intensity similar to that of cerebrospinal fluid (CSF) on all magnetic resonance sequences.
A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.
Spider hemangiomas are up to a few centimeters in diameter.
Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).
A deviation from the normal discoid platelet shape.
An anomalous location and arrangement of platelet alpha granules.
A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears.
A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.
The alpha granules contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.
A deviation from the normal count of alpha granules per thrombocyte.
A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.
A deviation from the normal count of dense granules per thrombocyte.
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.
Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing.
Pain due to a stimulus that does not normally provoke pain.
Abnormal sensations with no apparent physical cause that are painful or unpleasant.
Dysesthesia is a subclass of paresthesia in which the sensations are unpleasant or disagreeable.
An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.
Abnormality of neurotransmitter metabolism
The presence of circulating autoantibodies to anticardiolipin in the mother.
There have been reports of cerebral infarction in a newborns in association with elevated maternal anticardiolipin antibodies.
Maternal anticardiolipin antibody positive
A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.
A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.
A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.
Cephalohematoma is generally caused by trauma during labor.
The presence of hemosiderin in the urine.
Hemosiderinuria leads to a brown color of urine. It is a marker of chronic intravascular hemolysis, in which hemoglobin is released from RBCs into the bloodstream in excess of the binding capacity of haptoglobin.
An increased concentration of fructose 1,6-bisphosphate aldolase in the serum.
Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.
An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum.
A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.
X chromosome inactivation (XCI) is the process by which one of the two copies of the X chromosome present in females is inactivated in order to achieves dosage equivalency for X-linked genes between XY males and XX females. An individual cell's decision to inactivate either the paternal or maternal X is made early in development, at approximately the time of implantation, such that normally there is a roughly equal distribution of either X being active. A deviation from equality is known as skewing, with common criteria for "skewed" inactivation being arbitrarily defined as the observation of inactivation of the same allele in 75% or 80% of cells (and very skewed inactivation resulting in 90% or 95% of cells with the same allele inactive). For some X-linked diseases there is strong selection in the heterozygous carrier in favor of cells bearing the mutation on the silenced inactive X, and thus, assessment of XCI skewing in female family members can be suggestive of carrier status.
Anomalous movements of the eyes that occur without the subject wanting them to happen.
Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers
Fatty infiltration of muscle tissue can be observed on muscle biopsy as well as through imaging by computed tomography and magnetic resonance tomography.
A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.
Conjunctival lipoma displays yellowish-pink stromal mass, histologically with large lipid vacuoles surrounded by stellate cells.
The presence of varices (enlarged and convoluted blood vessels) in the colon.
Colonic varices are a rare cause of lower gastrointestinal bleeding, most commonly associated with portal hypertension nd more rarely with congestive heart failure, mesenteric vein thrombosis, pancreatitis with splenic vein thrombosis and adhesions, and mesenteric vein compression. Colonic varices are usually located in the rectosigmoid region and the cecum.
Lack of specific granules in neutrophils.
Neutrophil polymorphonuclear leukocytes (PMNs) contain two principal types of granules. Azurophil granules appear early in neutrophil development and contain lysosomal enzymes, lysozyme, and myeloperoxidase (MPO). Specific granules are formed later, lack MPO and hydrolases, but contain lactoferrin and the remainder of the cell's complement of lysozyme. Consequently, specific granules may be conveniently detected at the electron-microscopic (EM) level by the cytochemical demonstration of their lack of MPO, while at the optical level their presence can be inferred from their positive immunocytochemical staining for lactoferrin with the use of specific antiserums.
Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.
Increased neutrophil nuclear projections
A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.
Increased concentration of beta-alanine in the blood.
EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.
EEG with centrotemporal focal spike waves
A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.
A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.
A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.
The presence of an aortic valve with one instead of the normal three cusps (flaps).
The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. Unicuspid aortic valve (UAV) shares many of the features of bicuspid aortic valve, including valvular dysfunction, aortic dilatation, aortic dissection, and dystrophic calcification, although these conditions develop at an earlier age and progress at a faster pace in UAV.
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Premature epimetaphyseal fusion in tibia
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Premature epimetaphyseal fusion in fibula
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Premature epimetaphyseal fusion in radius
Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.
Edema in the region of the Lower eyelid.
A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.
Synovial sarcoma is a high-grade tumor that is associated with poor prognosis.
A partial duplication of the ureter such that the duplicated ureters fuse to a single ureter before their insertion into the bladder.
This anomaly is only seen in the presence of renal duplication.
A complete duplication of the ureter such that the duplicated ureters with separate insertions into the bladder.
A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.
Increased numbers of mesangial cells per glomerulus, defined as four or more nuclei in a peripheral mesangial segment.
The presence of complement 3 deposits in the glomerulus.
Reduction in thickness of the basal lamina of the glomerulus of the kidney.
A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.
The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.
The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.
A bilateral form of developmental dysplasia of the kidney.
A two-sided form of atrophy of the kidney.
Hematuria that is visible upon inspection of the urine.
A form of nephrotic syndrome that does not respond to treatment with steroid medication.
A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.
Abnormal urinary electrolyte concentration
Increased concentration of albumin in the urine.
Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.
The presence of mildly increased concentrations of albumin in the urine (in adults, 30-150 mg per day).
Mildly increased levels of protein in the urine (150-500 mg per day in adults).
Moderately increased levels of protein in the urine (500-1000 mg per day in adults).
Severely increased levels of protein in the urine (1000-3000 mg per day in adults).
An abnormal concentration of potassium(1+) in the urine.
An abnormal phosphate concentration in the urine.
An abnormal concentration of chloride in the urine.
An decreased concentration of chloride in the urine.
High urine chloride in the presence of hypochloridemia.
An abnormal concentration of sodium in the urine.
An abnormally decreased sodium concentration in the urine.
An increased concentration of sodium(1+) in the urine.
An abnormally increased sodium concentration in the urine in the presence of hyponatremia.
An abnormal concentration of magnesium the urine.
An increased concentration of magnesium the urine.
An decreased concentration of magnesium the urine.
Abnormal concentration of urate in the urine.
Abnormality of urinary uric acid concentration
Elevated concentration of urate in the urine.
Abnormal concentration of sulfate in the urine.
Elevated concentration of SO4(2-), i.e., sulfate, in the urine.
An anomalous finding in the examination of the urine for cells.
The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.
Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. The casts are suibsequently eliminated via the urine and may be seen by microscopy of the urine sediment. A large number of casts can indicate kidney disease. Urinary casts are composed of Tamm-Horsfall protein, which is a mucoprotein that is secreted by the distal loop of Henle.
Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.
A cyst located along the allantois canal.
Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.
A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.
Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.
Functional anomaly of the kidney persisting for at least three months.
A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).
Proteinuria is commonly seen in stage 1 chronic kidney disease.
A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).
Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.
In the eye, pseudoexfoliation syndrome is characterized by the deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. PXM can be observed in vivo during slit lamp examination. It appears as 'dandruff-like' material in the anterior chamber or most characteristically on the anterior lens capsule deposited in a double concentric ring pattern. The rings are separated by a clear zone presumably created because of the movement of the iris on the anterior lens surface. The central ring is located at the area of the iris sphincter, while the peripheral ring is only visible after pupil dilation. PXM is also often observed by slit lamp examination at the pupillary margin, on the lens zonules and on the trabecular meshwork. The site of production of this material which is a complex of various glycoproteins is unclear, but PXM can potentially originate from the iris, lens epithelium, ciliary body, or the trabecular meshwork.
An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.
Abnormality of the suspensory ligament of lens
Abnormal suspensory ligament of lens morphology
Tremulousness (trembling) of the lens of the eye.
Phacodonesis results from lesions of some or most of the zonular fibres are broken.
An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.
Accumulation of abnormal amounts of pigment within the trabecular meshwork.
Gonioscopy can be used to reveal pigment deposition on the trabecular meshwork.
Pigment deposition in the trabecular meshwork
An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.
A difference in the amount of intraocular pressure in the right and left eye.
Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.
These pigment granules can accumulate in the trabucular meshwork and lead to increased intraocular pressure. That is coded separately as HP:001263.
Reduction in the amount of blood flow to the iris.
This feature can be diagnosed by iris angiography.
Retinal vein occlusion can lead to edema and ischemia of the retina.
High urine calcium in the presence of hypocalcemia.
A functional anomaly of the nervous system.
Abnormality of nervous system physiology
A structural anomaly of the nervous system.
Abnormality of nervous system morphology
A deviation from the norm of the intracranial pressure.
Intracranial pressure (i.e., the pressure inside the skull) represents the pressue in the brain tissue and in the cerebrospinal fluid (CSF). Deviations from normal are generally identified by measuring the pressure of the CSF.
A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.
Usually, small remnants of the cerebellum are present; therefore the term subtotal cerebellar agenesis is also used in the literature.
Decreased amount of pigmentation in the fovea centralis.
An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.
Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.
This feature can be appreciated by imaging studies (magnetic resonancy tomography), by palpation along the axis of a nerve, and by biopsy, and may be caused by axonal swelling or by myelin thickening. The differential diagnosis of enlarged peripheral nerves includes leprosy, hereditary motor and sensory neuropathy type 1 (about 30% of patients), but not type 2 (the axonal form), some other polyneuropathies, neurofibromatosis, and nerve tumors. A good review is available in Practical Neurology, 2003,3:40-45 by Michael Donaghy (no pubmed id).
A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.
Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
An abnormal reduction in the inflammatory response to injury or infection.
A abnormal increase in the inflammatory response to injury or infection.
Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.
The Sylvian fissure (also known as the lateral sulcus) separates the frontal and parietal lobes superiorly from the temporal lobe inferiorly.
A severe form of gait ataxia such that an affected person cannot walk at all.
Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.
Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).
Increased concentration of dopamine in the cerebrospinal fluid (CSF).
Decreased concentration of dopamine in the cerebrospinal fluid (CSF).
A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.
Note that while structural brain anomalies can cause abnormal brain PET scan results, structural abnormalities are detectable by multiple neuroimaging modalities and should be coded using terms from the hierarchy under 'Abnormality of nervous system morphology' (HP:0012639).
Abnormal brain positron emission tomography
An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.
Abnormal brain FDG positron emission tomography
Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.
Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the prefrontal cortex.
Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.
Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the thalamus.
Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.
Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the hypothalamus.
Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.
Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity, thus this sign indicates reduced metabolic activity in the parietal cortex.
A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a mild reduction is defined as 45-54 percent.
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.
The normal range is at least 55 percent.
A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as 30-44 percent.
A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 55 percent, and a moderate reduction is defined as less than 30 percent.
An abnormal motion of a segment of the left ventricle during the cardiac cycle.
This feature can be appreciated using color kinesis, which tracks the motion of the endocardium in real time throughout systole and results in color-encoded images reflecting the magnitude and timing of endocardial motion.
Regional left ventricular wall motion abnormality
An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.
Carotid sinus syncope cam be elicited mechanical manipulation of the carotid sinuses (eg, taking pulses in the neck, shaving).
Syncope following a quick change in position from lying down to standing.
Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.
Abulia is less severe thana kinetic mutism, and more so than apathy.
Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking.
A failure to develop of the upper vagina.
The female reproductive tract primarily develops from the Mullerian ducts (MD), which form as an invagination of the coelomic epithelium and further develop into the upper two-thirds of the vagina, the uterus and the Fallopian tubes. Complete aplasia of the uterus, cervix, and upper vagina is termed Mullerian aplasia. This term refers to the aplasia of the upper roughly two thirds of the vagina that is characteristic of Mullerian aplasia.
A failure to develop of the lower part of the vagina.
An abnormal build up of iron (Fe) in brain tissue.
An anomalous build up of copper (Cu) in the brain.
An abnormal build up of iron (Fe) in the globus pallidus.
An anomalous build up of iron (Fe) in the substantia nigra.
An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.
An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.
A structural abnormality of the pineal gland.
The pineal gland typically measures 7 x 6 x 3mm in size and is located in a groove between the laterally placed thalamic bodies.
Accumulation of calcium salts in the pineal gland.
This feature can be appreciated on skull radiography.
A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.
Pineal cysts are benign and often asymptomatic lesions. They are typically visualized by computed tomography or magnetic resonance imaging.
An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.
This feature is typically assessed by magnetic resonance tomography of the brain.
An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.
An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.
Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.
A functional abnormality of the pineal gland.
An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.
The rhythm of melatonin synthesized in and released from the pineal gland is characterized by a prominent nocturnal peak, which also contains temporal information that had originated in the suprachiasmatic nucleus. Strong reductions of circulating melatonin are also observed in numerous disorders and diseases, including Alzheimer's disease, various other neurological and stressful conditions, pain, cardiovascular diseases, cases of cancer, endocrine and metabolic disorders, in particular diabetes type 2.
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.
A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.
The term "unidentified bright object" has been used to describe T2 hyperintense lesions in the thalamus and elsewhere in patients with neurofibromatosis.
Deviation from the normal range of size of the thalamus.
An increase in the quantity of space occupied by the thalamus.
A reduction in the quantity of space occupied by the thalamus.
A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.
Focal proliferation of glial cells in the cerebellum.
A structural abnormality of a diaphysis of the leg.
Anomaly of shaft of long bone of lower limb
A functional anomaly of the large intestine.
A sudden, irresistible need to have a bowel movement.
A repeated, painful urge to defecate without excreting stool.
Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.
An increase in size of the anatomic space between the arachnoid membrane and pia mater.
An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).
MRS can only detect a few metabolites as least millimolar concentrations are necessary for the metabolites to be detected. The major brain metabolites detected are choline (Cho), creatine (Cr), N-acetyl aspartate (NAA), lactate, myo-inositol, glutamine and glutamate, lipids, and the amino acids leucine and alanine.
An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
The Choline (Cho) peak is a heterogeneous peak representing various choline-containing compounds such as acetylcholine, phosphocholine (lecithin), glycerophosphocholine, and various other intermediates of phospholipids metabolism. It is an indicator of cell density and cell wall turnover. Elevated levels are found in tumors, especially malignant ones, and in certain demyelinating diseases. Choline resonance presents at 3.22 ppm. Studies have shown there is also a direct association between Cho and levels of Ki-67, a protein expressed in all phases of the cell cycle except GO that serves as a good marker for cellular proliferation. This observation makes Cho a reliable predictor of cellular activity in tumor tissue.
An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Lactate (Lac) is absent in normal brain tissue and its presence is indicative of anerobic glycolysis at the cellular level. Elevated levels are associated with ischemic conditions or metabolic disorders (where anerobic glycolysis predominates) but is also noted at the edges of large brain tumours. The peak is very sensitive to the technique employed and unless the correct echo time is employed, it may be artifactually suppressed. The spectral peak lies at 1:33 ppm. The peak is often inverted or bifid.
A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy
N-Acetyl Aspartate (NAA) is an amino acid found exclusively in neurons. It is regarded as a non-specific marker and is thought to be involved in Coenzyme A interactions and lipogenesis within the brain. It is a marker of neuronal viability. Normal NAA concentration is in the range of 8-9 mmol/kg in healthy adult brain. Concentrations are decreased in conditions leading to axonal injury or neuronal loss. NAA is also decreased in other conditions such as neoplasm, infarction, and inflammatory conditions such as multiple sclerosis. NAA peak is seen at 2.0 ppm (parts per million) on MR spectra.
Reduced brain N-acetyl aspartate level by MRS
A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).
Creatine (Cr) is related to cell energy pathways, being both the substrate and product of creatine kinase. Creatine reflects the energy potential available in brain tissue. Its concentration in normal brain remains very high and stable due to high metabolic energy needs of brain cells. Its peak is noticed at 3.0 ppm. Creatine-Choline ratios are an important indicator of disease states such as demyelization.
Abnormal brain choline/creatine ratio by MRS
Excessive growth of a nail laterally into the nail fold.
A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.
Delayed maturation of the end part of the vertebral bone
Delayed ossification of vertebral epiphysis
The presence of a mild form of hearing impairment.
The presence of a moderate form of hearing impairment.
A profound (essentially complete) form of hearing impairment.
The presence of a moderate form of conductive hearing impairment.
A severe form of conductive hearing impairment.
Abnormal structure of the gastrointestinal tract.
Morphological abnormality of the GI tract
Morphological anomaly of the digestive system
Morphological abnormality of the gastrointestinal tract
Abnormal functionality of the gastrointestinal tract.
Functional abnormality of the gastrointestinal tract
Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.
A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.
Venous malformations are always present at birth, and usually involve the skin of the face, limbs, or trunk.
Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.
Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.
Sinoatrial block is characterized by a delayed in heartbeat and pauses between P waves as demonstrated by electrocardiography.
Edema in the region of the upper eyelid.
A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.
An abnormal localized widening (dilatation) of the thoracic aorta.
A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall
Dilatation of the fusiform descending thoracic aorta
Fusiform descending thoracic aortic aneurysm
An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall
Dilatation of the saccular descending thoracic aorta
Saccular descending thoracic aortic aneurysm
Absence of the tongue owing to a developmental abnormality.
Abnormal anatomic location of the anterior pituitary gland.
A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Low blood glucose is accompanied by elevated levels of ketone bodies in the body.
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.
The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). There is agreement that an actue cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks.
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.
Failure to develop of the small intestine.
A tumor of the skin or mucous membrane with finger-like projections.
The vast majority of papillomas are benign. Papillomas on the skin (cutaneous papillomas) are commonly referred to as warts.
Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Fingernail that appears thin when viewed on end.
No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males (http://www.emedicine.com/orthoped/topic421.htm). Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it include other characteristics besides thin nails, it should not be used to indicate this. The affected digits should be specified.
Excessive fat around the stomach and abdomen.
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Toenail that appears thin when viewed on end.
A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.
A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.
A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
Abnormal basal ganglia MRI signal intensity
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.
Focal T2 hypointense basal ganglia lesion
A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.
Increased amount of myelin in the central nervous system.
Abnormal increase in size of the brainstem.
An enlarged brainstem may be observed with diffuse infiltrating tumor, PNET (primitive neuroectodermal tumor), ganglionoma, hamartoma, vascular malformation, or inflammatory process.
An increased polymorphonuclear cell count in the cerebrospinal fluid.
A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
This term should be used to describe abnormalities with onset in the developmental period.
A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first.
A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.
The presence of atrophy (wasting) of the cerebral white matter.
A sudden attack of dyspnea that occurs while the affected person is at rest.
Paroxysmal nocturnal dyspnea (PND) is a sensation of shortness of breath that awakens the patient, often after 1 or 2 hours of sleep, and is usually relieved in the upright position.
A sensation of breathlessness in the recumbent position, relieved by sitting or standing.
An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.
An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.
A deviation from normal size of the placenta.
A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)
Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).
Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).
A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
A ratio of less than 0.86 (or according to other sources 0.89) is considered abnormally reduced.
Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.
A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.
A structural anomaly of the ciliary body.
A tumor (abnormal growth of tissue) of the retina.
A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.
Classically retinal astrocytic hamartomas appear as a cream-white, well-circumscribed, elevated lesions that may present as multiple or solitary sites. A lesion is commonly seen with a multilobulated, "mulberry" appearance, but can also appear flat and semitranslucent. It is most frequently associated with tuberous sclerosis but may also be found rarely in patients with neurofibromatosis. Although the finding may point toward a systemic association, it can also be found incidentally on retinal examination as an isolated presentation.
Hearing loss that occurs acutely and resolves completely.
Transient hearing loss is particularly common in childhood as a result of inadequate ventilation of the middle ear.
A tumor (abnormal growth of tissue) of the ear.
A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).
A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.
Perilobar nephrogenic rests are associated with Beckwith-Wiedemann syndrome (BWS) and hemi-hyperplasia.
A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.
Intralobar nephrogenic rests are associated WAGR (Wilms tumor-aniridia-genital anomalies-retardation) syndrome and Denys-Drash syndrome (DDS).
Inflammation of the connective and adipose tissues surrounding the kidney.
Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.
Note that the term camptodactyly refers to a painless flexion contracture of the proximal interphalangeal (PIP) joint and not to a finger joint contracture in general.
Repeated infections of the urinary bladder.
One definition of recurrent cystitis involves 3 or more diagnosed cystitis episodes (ICD-9 codes 595.0, 595.9, 597.81, 599.0 with episodes separated by 30 days or more) within a 12-month period or 2 episodes within 6 months.
A net-like pattern of increased pigmentation of the oral cavity.
Reticulate pigmentation of oral mucous membrane
An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.
Abnormal intramembranous bone ossification
An anomaly of the process of formation of bone in the humerus.
Abnormal maturation of long bone in upper arm
A lack of bone mineralization of one or more body of thoracic vertebra.
Absent ossification of thoracic vertebral bodies
A kinked appearance of the brainstem, i.e., an exaggerated flexure.
Kinked brainstem is an indicator of severe neurodysgenesis arising early in gestation. This sign can be appreciated in prenatal magnetic resonance imaging.
Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
Periventricular cerebral white matter hypodensities
See also defintion for "Deep white matter hypodensities". These two entities are in contra-distinction to each other.
Periventricular white matter hypodensities
A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.
The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination.
An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefoy may indicate a decrease in the quantity of healthy neuroretinal cells.
A cup to disc ratio of 0.3 is generally considered normal. Note that the ratio is measured in the vertical orientation unless otherwise specified.
A benign or malignant neoplasm arising from the lymphatic vessels.
Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.
Pulmonary lymphangiomyomatosis is a manifestation of lymphangioleiomyomatosis, which may also affect extrapulmonary locations. It can be seen in tuberous sclerosis.
One-sided weakness of the muscles of facial expression and eye closure.
A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.
The parietal and occipital bones in particular are common regions for accessory sutures because of their multiple ossification centers. Accessory sutures can be explained on the basis of incomplete union of the two separate ossification centers. Accessory sutures usually will show a zigzag pattern with interdigitations and sclerotic borders similar to major calvarial sutures.
Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).
The width of the jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards.
Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).
The lower jaw is measured from the right gonion to the left gonion using spreading calipers. The gonion is the point at the angle of the bony mandible where the ramus changes direction to become the body of the mandible. It faces inferiorly and medially and is best found by placing a finger over the outward facing angle and rolling the finger downwards and inwards. When a broad jaw is accompanied by a broad upper face the term Square face is used.
Inequality of refractive power of the two eyes.
Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.
Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.
Initially, transillumination defects are usually slit-like, but if pigment loss increases, the defects may be become larger and irregularly shaped.
A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.
A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares.
Insertion of the posterior columella superior to the nasal base.
An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.
Decreased distance between the attachments of the alae nasi to the face.
There is a marked difference in width of the nasal base depending on ethnic background.
Increased distance between the attachments of the alae nasi to the face.
This feature should be assessed in a frontal view. There is no objective measure of width. This may give the impression of a Depressed nasal ridge, but this should be assessed in profile and separately coded. Marked widening of the nasal ridge may be difficult to distinguish from a Bifid nose.
Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.
This feature is distinct from Wide nasal ridge and Wide nasal bridge.
Underdevelopment of the breast on one side only.
Underdevelopment of the breast on both sides.
Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).
Underdeveloped female external genitalia
A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.
Right ventricular noncompaction cardiomyopathy
A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.
Noncompaction of the ventricular myocardium
Noncompaction of the ventricular myocardium is a cardiomyopathy thought to be caused by arrest of normal embryogenesis of the endocardium and myocardium. This abnormality is often associated with other congenital cardiac defects, but it is also seen in the absence of other cardiac anomalies. During early embryonic development, the myocardium is a loose network of interwoven fibers separated by deep recesses that link the myocardium with the left ventricular cavity. Gradual compaction of this spongy meshwork of fibers and intertrabecular recesses, or sinusoids, occurs between weeks 5 and 8 of embryonic life, proceeding from the epicardium to endocardium and from the base of the heart to the apex. Noncompaction of the ventricular myocardium (NVM) is an uncommon finding. It is thought to be caused by arrest of the normal process of endomyocardial morphogenesis. The left ventricle is uniformly affected, but biventricular noncompaction has been reported, with right ventricular noncompaction described in less than one-half of patients. Because of difficulty in distinguishing normal variants in the highly trabeculated right ventricle from the pathological noncompacted ventricle, several authors dispute the existence of right ventricular noncompaction [pmid:15210614].
Noncompaction cardiomyopathy that affects both ventricles.
Biventricular noncompaction cardiomyopathy
Myocarditis can be caused by a variety of bacterial and viral infections. Enteroviruses, especially coxsackievirus B, are often associated with acute myocarditis. However, with the advent of genetic analysis, adenovirus and parvovirus B19 have also been found to be frequent causes of myocarditis. Exposure to drug treatment, physical stimuli such as radiation and heat, metabolic disorders, immune disorders, and pregnancy are also causes of myocarditis. Many cases of myocarditis are idiopathic. Myocarditis presents with non-specific symptoms including chest pain, dyspnoea, and palpitations, and thus often mimics more common disorders such as coronary artery disease. In some patients, cardiac MRI and endomyocardial biopsy can help identify myocarditis, predict risk of cardiovascular events, and guide treatment.
A loss of the ability to move the vocal fold on both sides.
Decreased strength of the vocal fold on one side.
Decreased strength of the vocal fold on both sides.
This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.
Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term.
The intensity or degree of a manifestation.
Synonymous with PATO:0000049, intensity.
Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.
Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.
Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.
Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.
Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.
The anatomical localization of the specified phenotypic abnormality.
The localization with respect to the side of the body of the specified phenotypic abnormality.
Being present on both sides of the body.
Being present on only the left or only the right side of the body.
Being located on the right side of the body.
Being located on the left side of the body.
The pattern by which a phenotype affects one or more regions of the body.
Affecting all regions without specificity of distribution.
Being confined or restricted to a particular location.
Localized away from the central point of the body.
Localized close to the central point of the body.
The presence of an increased number of twists and turns of the retinal blood vessels.
A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.
An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.
A benign tumour originating from the outer root sheath of the hair follicle.
Presence of a unitary trichilemmoma, a benign tumour originating from the outer root sheath of the hair follicle.
Presence of multiple trichilemmomata, a benign tumour originating from the outer root sheath of the hair follicle.
A form of partial status epilepticus with simple motor manifestations that are maintained for over one hour, with clonic activity restricted to one body part and recurring at fairly regular intervals.
The narrowing or partial blockage of a portion of the small intestine.
Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.
A narrowing of a segment of colon whereby bowel continuity is maintained.
Hepatic fibrosis that reaches from a portal area to another portal area.
Hypospadias with location of the urethral meatus in the scrotum.
Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.
Increased pigmentation (skin color) of the scrotum.
This finding may be normal variation but can also be seen with congenital adrenal hyperplasia and other causes of excessive adrenocorticotrophic hormone (ACTH) stimulation.
Anomaly of the folded ridges (wrinkles) of skin of the scrotum.
Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.
Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.
A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.
Formation of excess connective tissue in the testicle.
A gonad that contains both ovarian follicles and testicular tubular elements.
An ovotestis is usually observed to have connective tissue separating the ovarian components from the testicular components, but ovarian and testicular elements may be intermixed.
Any structural anomaly of a reproductive cell.
A structural anomaly of a male reproductive cell.
A structural abnormality of the sperm head.
A structural abnormality of the sperm neck.
The neck of spermatozoa is the site of articulation between the head and tail, and comprises the sperm centriole and connecting piece.
A structural abnormality of the sperm mid-piece.
A structural abnormality of the sperm tail.
Defective sperm flagella are the principal cause of sperm motility disorders.
Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.
A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.
A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
"vaginal" refers to the tunica vaginalis of the testis, not to the vagina.
A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.
Aplasia (congenital absence) of the vas deferens.
An abnormal functionality of the male genital system.
Abnormal male reproductive system physiology
Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.
The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.
The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.
Difficulty of a male in achieving orgasm.
An anomaly of the labia minora, the folds of skin between the outer labia.
A fluid filled sac located in the Fallopian tube.
A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.
Fallopian tube torsion, though rare, should be considered in women of reproductive age with unilateral pelvic pain. Early diagnostic laparoscopy is important for an accurate diagnosis and could salvage the tube.
The presence of a supernumerary Fallopian tube.
Accessory fallopian tube is the congenital anomaly attached to the ampullary part of main tube. This accessory tube is common site of pyosalpinx, hydrosalpinx, cystic swelling and torsion.
An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.
The clinical signs and symptoms of hemorrhagic ovarian cyst (HOC) are variable and include such patients as asymptomatic cases or patients showing symptoms of acute abdomen. HOC is detected as pelvic masses by ultrasonography, but it is often misdiagnosed with other organic masses because of its variable clinical and sonographic findings, and in some cases may lead to laparotomy.
A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.
Ovarian serous cystadenoma HAS a malignant potential several times greater than that of mucinous cystadenoma. It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size.
An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.
Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.
Hair on the neck extends less inferiorly than usual.
Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Muscle hypertrophy affecting the muscles of the neck.
Muscle hypertrophy affecting the paraspinal muscles.
Muscle hypertrophy affecting the scapular muscles.
An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.
An anomaly identified by motor evoked potentials (MEPs) in the arm.
Abnormal motor evoked potentials in the upper limb
Abnormal upper-limb motor evoked potentials
An anomaly identified by motor evoked potentials (MEPs) in the leg.
Abnormal motor evoked potentials in the lower limb
Abnormal lower-limb motor evoked potentials
Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
Slowed relaxation of muscles in the face.
Slowed relaxation of muscles in the jaw.
Slowed relaxation of muscles in the leg.
Slowed relaxation of muscles in the arm.
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.
Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.
The palpebral fissure length may be increased with an enlargement of the palpebral aperture. The lateral part is usually more everted defining euryblepharon. The whole length eversion of the lower lid defines congenital ectropion. Euryblepharon is characteristic of the Kabuki syndrome.
A `coloboma` (HP:0000589) of the ciliary body.
A spatial pattern that is spread out, i.e., not localized.
A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.
A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.
A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.
Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.
The basilar artery arises from the confluence of the two vertebral arteries.
A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.
An ocular movement abnormality characterised by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.
A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.
A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts horizontally.
A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.
Accommodative esotropia refers to strabismus (cross of the eyes) that occurs with focusing efforts of the eyes.
Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.
A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.
A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.
The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.
Anti-granulocyte macrophage-colony stimulating factor (GM-CSF) autoantibodies have been shown to cause acquired pulmonary alveolar proteinosis (PAP)(1, 2), a chronic lung disease characterized by abnormalities of surfactant metabolism.
Anti-granulocyte-macrophage colony stimulating factor antibody positivity
Any functional abnormality of erythrocytes (red-blood cells).
Any deviation from the normal number of red blood cells per volume in the circulation.
An abnormal elevation above the normal number of red blood cells per volume in the circulation.
An abnormal reduction below the normal number of red blood cells per volume in the circulation.
Any deviation from the normal concentration of hemoglobin in the blood.
An abnormal reduction below normal hemoglobin concentration in the circulation.
An abnormal elevation above normal hemoglobin concentration in the circulation.
Any deviation from the normal number of eosinophils per volume in the blood circulation.
Persistent presence of Epstein-Barr virus in the blood.
Primary EBV infection is often asymptomatic in the immunocompetent host. In immunodeficient patients, however, primary EBV infection or secondary reactivation may result in persistent symptomatic EBV viremia, a clinical condition with a prolonged (over 6 months) and distinct symptomatic phase with fever, lymphadenophathy and several other possible features such as hepatitis and pneumonia. Persistent symptomatic EBV viremia can be associated with lymphoma, lymphoproliferative disease, hemophagocyticlymphohistiocytosis (HLH) and aplastic anemia, but most typically goes into spontaneous remission.
A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.
A reduction in skin pigmentation can be the result of factors such as decreased melanin content or anomalous melanin distribution. In diagnosing pigmentary disorders, Wood's light examination plays an important role, distinguishing hypo- and depigmentation. While a decreased pigment production is reported as hypopigmentation, depigmentation has been defined as loss of pigment. In a similar way, partial lack of melanin is known as hypomelanosis while amelanosis is the total absence of melanin.
Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. The main urinary crystalline categories include: calcium oxalates, calcium phosphates, uric acids and urates, struvite, aminoacids (cystine), purines (2,8-dihydroxyadenine and xanthine) and drugs (e.g. sulfamethoxazole, amoxycillin, ceftriaxone, atazanavir).
The presence of leuucine crystals in the urine.
A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.
Thirteen to twenty percent of ganglia are found on the volar aspect of the wrist, arising via a pedicle from the radio scaphoid/scapholunate interval, scaphotrapezial joint, or the metacarpotrapezial joint, in that order of frequency.
An elevated level of carnitine in the urine.
An increased level of alanine in the urine.
An increased level of beta-alanine in the urine.
Beta-alanine is a component of carnosine, anserine and pantothenic acid. It is comprised of propionic acid with the amino group in the 3-position.
Nuclear or cytoplasmic aggregates of substances in red blood cells.
A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).
A type of erythrocyte inclusion composed of denatured hemoglobin.
An infection of a hair follicle that extends subcutaneously, forming an abscess.
A group of infected hair follicles, larger and deeper than a furuncle.
An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.
Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.
The Bacillus Calmette-Guerin (BCG) vaccine has existed for 80 years and is one of the most widely used of all current vaccines. The BCG vaccine has a protective effect against meningitis and disseminated tuberculosis in children. or most children, BCG vaccination is harmless. However, infection, even disseminated infection, caused by BCG has occasionally been reported. The incidence of BCG infection is approximately one in ten thousand to a million. The BCG-induced disease phenotypes were designated as local, regional, distant, or disseminated pattern. The former two patterns were conventionally termed as BCGitis and the latter two as BCGosis.
Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination.
Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.
Infection with the rubella virus of the live-attenuated vaccine.
Infection with live attenuated polio vaccine following vaccination. This is an extreemely rare event that may indicate immunocompromise.
Infection with live attenuated rotavirus vaccine following vaccination.
Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.
Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.
Prolonged need of intravenous antibiotic therapy
Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.
An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.
Encapsulated bacteria have been responsible for the majority of bacteremia and meningitis in children for many decades. In children aged over 3 months, Streptococcus pneumoniae (pneumococcus), Neisseria meningitidis (meningococcus), and Haemophilus influenzae have been the predominant pathogens, with H. influenzae being a less significant problem since the introduction of vaccines against type b organisms. Disease is most common in young children less than 5 years of age and older adults aged over 65 years. In neonates and young infants, Group B Streptococcus (GBS) is the major cause of bacteremia and meningitis. These organisms have the shared characteristic of being surrounded by a polysaccharide capsule, which is a key virulence factor because it helps the bacteria evade complement deposition and subsequent phagocytosis and killing. These polysaccharides have also been the basis for successful vaccines against all except GBS, because immune responses against the polysaccharide capsule are the primary mechanism of protection for the human host. Each species can be encapsulated by polysaccharides of different biochemical compositions, which has been used for categorization into capsular groups or serotypes.
Infection of the brain parenchyma with herpes simplex virus, resukting in inflammation of the brain parenchyma with neurologic dysfunction.
Herpes encephalitis may occur in mmunocompromised patients, but HSV-1 is consistently the single most common cause of sporadic encephalitis worldwide.
An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.
An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.
Fungal infection characterized by invasion of host tissues.
Invasive fungal infections are a significant health problem in immunocompromised patients. Major risk factors for IFI include neutropenia less than 500 neutrophils/ml for more than 10 days, haematological malignancies, bone marrow transplantation, prolonged (over 4 wk) treatment with corticosteroids; prolonged (over 7 days) stays in intensive care, chemotherapy, HIV infection, invasive medical procedures, and the newer immune suppressive agents.
An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.
Pneumocystis, initially considered to be a protozoan, later has been assigned to the kingdom of fungi.
Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.
Invasive pulmonary aspergillosis usually occurs in severely immunocompromised patients. Classic at-risk patients are those with prolonged neutropenia, either due to chemotherapy or immunosuppressive therapy, post hematopoietic stem cell transplant (SCT), or solid organ transplant.
An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.
Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).
An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.
Several reports of giardiasis in immunocompromised patients exist.
An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).
An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.
A partial or complete breakage of the continuity of a bone.
A deviation from the normal proportion of natural T regulatory cells (Treg) in the blood circulation. Natural Treg are characterised as expressing both the CD4 T cell co-receptor and CD25, which is a component of the IL-2 receptor. Treg are thus CD4+ CD25+. Expression of the nuclear transcription factor Forkhead box P3 (FoxP3) is the defining property which determines natural Treg development and function.
Identification of Treg cells remains problematic, because accumulating evidence suggests that all the presently-used Treg markers (CD25, CTLA-4, GITR, LAG-3, CD127 and Foxp3) represent general T-cell activation markers, rather than being truly Treg-specific.
Abnormal CD4+CD25+ regulatory T cell proportion
An abnormally increased proportion of natural T regulatory cells (Treg) in the blood circulation.
Elevated proportion of CD4+CD25+ regulatory T cells
An abnormally decreased proportion of natural T regulatory cells (Treg) in the blood circulation.
Reduced proportion of CD4+CD25+ regulatory T cells
Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.
Persistent human papillomavirus infection
Osteoarthritis of the metatarsophalangeal joint of the first toe.
Hallux rigidus is characterised by arthralgia, which is usually worsened by walking. With time the joint enlarges and the symptoms become more pronounced with pain at the dorsal bony prominence of the first metatarsophalengeal joint (MTPJ) and decreased range of motion, especially dorsiflexion. In this process the destruction of the cartilage commonly starts at the dorsal portion of the metatarsal head and the bony prominence might impinge against the proximal phalanx.. Physical examination usually shows a painful, tender and swollen first MTPJ with limited motion and pain usually when dorsiflexed. Typical radiographic findings are asymmetric joint narrowing and a flattened metatarsal head. With advancement of the disease more of the joint surface is involved and subchondral cysts, sclerosis and bony proliferation at the joint margins occur and the joint narrowing progresses [PMID:24649409].
Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.
A structural anomaly of the capillary blood vessels in the renal glomerulus.
Abnormal glomerular capillary morphology
An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.
Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.
The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.
Partial or complete loss of foveal tissue that was once present.
Loss of foveal tissue (atrophy) may be inferred by a medical history of loss of vision and the observation of a foveal lesion such as reduced foveal thickness on optical coherence tomography (OCT).
Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.
Congenital nasal pyriform aperture stenosis (CNPAS) is a rare cause of nasal airway obstruction that clinically mimics choanal atresia, but needs to be differentiated from the latter because of the widely divergent modes of management [PMID:21423901].
Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.
A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.
Decerebrate rigidity results from release of vestibular nuclei from cerebral control because of a brainstem lesion (i.e., decerebration).
Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.
This feature can be observed in individuals with the classic type of Ehlers Danlos syndrome.
A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).
The formation of petechiae distal to a tourniquet or sphygmomanometer on release of pressure is known as the Rumpel-Leede sign. This sign was reported in 1909 by Theodor Rumpel, and again independently in 1911 by Carl Stockbridge Leede. Historically, the tourniquet test (or Rumpel-Leede Capillary-Fragility Test) was used to assess patients for thrombocytopenia and capillary fragility. Today, the Rumpel-Leede sign may be observed iatrogenically in the context of continuous blood-pressure monitoring [PMID:24382085].
A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.
Sudden breakage of an artery leading to leakage of blood from the circulation.
An increased concentration of prostate specific antigen (PSA) in the circulation.
Prostate-specific antigen (PSA) screening for prostate cancer has been common practice although the utility of general PSA screening has been called into question.
Elevated prostate-specific antigen level
A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.
A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.
Decreased erythrocyte sedimentation rate
A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.
An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.
Patients with idiopathic megarectum have a dilated rectum but the proximal colon is usually of normal diameter. The condition usually starts in childhood or adolescence, and faecal impaction is common. By contrast, patients with idiopathic megacolon usually do not experience impaction, and the symptoms often begin in adult life [PMID:9301507].
A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.
The condition can cause feces and gas to exit the vaginal vestibule.
Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.
The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.
A structural anomaly of nerves of the enteric nervous system.
The enteric nervous system represents a collection of about 500 million neurons that control virtually all gut functions (including motility), largely independent from the central nervous system. The enteric nervous system is located in the gut wall and extends throughout its length from the esophagus to the internal anal sphincter.
Abnormality of enteric nervous system morphology
Abnormality of enteric neuron morphology
Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.
Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus.
A functional anomaly of the digestive system.
Abnormality of digestive system physiology
A structural anomaly of the digestive system.
Abnormality of digestive system morphology
Abnormal form of the progenitor cells committed to the erythroid lineage.
Abnormal morphology of erythroid progenitor cell
Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.
Focal proliferation of glial cells in the hypothalamus.
A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.
Swelling within the basal ganglia due to the accumulation of fluid.
Swelling within the thalamus due to the accumulation of fluid.
A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.
Increase in size of one or more mesenteric lymph nodes.
Mesenteric lymph nodes measured by CT as being larger than 10 mm are considered enlarged.
A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.
A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Abnormal lactate level by magnetic resonance spectroscopy
A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Reduced brain lactate level by magnetic resonance spectroscopy
A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
Abnormal brain choline level by magnetic resonance spectroscopy
An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).
Reduced brain choline level by magnetic resonance spectroscopy
Abnormal brain creatine level by magnetic resonance spectroscopy
A deviation from normal in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
Elevated brain creatine level by magnetic resonance spectroscopy
A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).
Reduced brain creatine level by magnetic resonance spectroscopy
A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy
Abnormal brain N-acetyl aspartate level by MRS
An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).
Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy
Elevated brain N-acetyl aspartate level by MRS
A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.
Abnormality of olfactory lobe morphology
Partial or complete wasting (loss) of hypothalamus tissue that was once present.
A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.
Splenic abscesses generally occur in patients with neoplasia, immunodeficiency, trauma, metastatic infection, splenic infarct or diabetes.
Single (solitary) abscess in the spleen.
The practice of eating earth or soil-like substrates such as clay or chalk.
The anterior abdominal wall is sunken and presents a concave rather than a convex contour.
Scaphoid abdomen can be observed in diseases such as congenital diaphragmatic hernia (since the abdominal contents can be in the thorax).
Thalamic hemorrhage may be observed in individuals with hypertension. In both the acute and chronic phases of bleeding, prominent susceptibility effect, seen as hypointense blooming on sequences, is typically seen upon magnetic resonance imaging.
A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.
Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.
An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.
U waves represent prolonged repolarisation of myocardial M cells. Under normal conditions the M cells are electrically coupled to adjacent cell layers. However, in conditions that produce electrical uncoupling, these M cells have significant effects on repolarisation producing prolonged rounded ST-T waves or U waves. The finding of U wave inversion on an ECG at rest or baseline is a non-specific finding. It is significant when observed post exercise, being originally described in early 1940s. Subsequent studies in the late 1970s, demonstrated a significant correlation of U wave inversion with either left main or LAD disease.
Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.
Inverted U wave may be a sign of coronary artery disease, hypertension, valvular heart disease, congenital heart disease, cardiomyopathy, or hyperthyroidism. In individuals with acute chest pain, it may be a sign of myocardial ischemia.
Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave.
U wave inversion that is induced by exercise stress testing.
An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.
Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).
Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).
Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.
The QRS complexes of the electrocardiogram alternate in height.
A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.
A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.
Hyperkeratosis is most commonly orthokeratotic.
A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.
Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.
Elastic fibers help the skin return to its normal configuration after being stretched or deformed. The elastic fibers consist of two components: microfibrils and matrix elastin. The microfibrillar component amounts to only 15% of the elastic fiber, whereas the amorphous, electron-lucid elastin makes up 85% of the fiber. In light microscope sections that are routinely stained, elastic fibers are inconspicuous. With special elastic tissue stains, such as orcein or resorcin-fuchisin, or in plastic-embedded sections they are found entwined among the collagen bundles [PMID:21738362].
Abnormal cutaneous elastic fiber morphology
An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.
Disorders of elastosis may show an increased content of desmosines, whereas elastolytic disordersmay show a reduced content of desmosine.
Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
In contrast to folliculitis, perifolliculitis refers to inflammatory cells, usually lymphocytes, within the perifollicular tissues with focal extension into the adjacent reticular dermis. Folliculitis and perifolliculitis can occur independently or incombination owing to follicular disruption and irritation.
Passage of many stools containing blood.
Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea.
Passage of many stools containing blood and mucus.
Area of skin requiring an increased amount of time to return to its original shape after being stretched.
Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.
Onychomadesis is defined as proximal nail plate separation from the nail matrix and nail bed caused by a temporary arrest in nail matrix activity, and may present as a Beau's line.
Vomiting of material that is of fecal origin.
Feculent vomiting is usually due to mechanical intestinal obstruction but it can be due to paralytic obstruction (adynamic ileus).
A structural anomaly of the mucous lining of the large intestine.
Abnormal large intestinal mucosa morphology
Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).
Note that we use the prefered label 'Epidermal acanthocytosis' to distinguish this term from acanthocytosis of red blood cells.
A retinal exudate in the area surrounding the optic nerve head.
A subretinal scar with a disc-like shape in the region of the macula.
A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.
Unprovoked explosive pathological sneezing.
Marked, involuntary jerking of the eyelids.
Some literature refers to eyelid myoclonia as a disease entity (Jeavons syndrome) that is characterized by episodes of eyelid myoclonus with absences.
Structural abnormality of the hypothalamus related to defective development.
Note that the term hypothalamic dysgenesis is generally used to refer to a morphological abnormality of the hypothalamus that is of presumed developmental (rather than acquired) origin.
Structural abnormality of the thalamus related to defective development.
Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin.
Any structural anomaly of the hippocampus,
The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.
Structural abnormality of the hippocampus related to defective development.
Note that the term hippocampal dysgenesis is generally used to refer to a morphological abnormality of the hippocampus that is of presumed developmental (rather than acquired) origin.
Structural abnormality of the basal ganglia related to defective development.
Note that the term basal ganglia dysgenesis is generally used to refer to a morphological abnormality of the basal ganglia that is of presumed developmental (rather than acquired) origin.
A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).
A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a cpillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).
There are many different classifications, and some authors treat the term capillary malformation as being synonymous with port wine stain (nevus flammeus). We refer to the detailed classification of Happle (PMID:25864701), which we do not completely follow.
A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots/
A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.
A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.
Cutis marmorata telangiectatica congenita
Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.
Two different forms can be distinguished. Diffuse, non-segmental angioma serpiginosum occurs as a hereditary trait, and autosomal dominant transmission is presently assumed.
Decrease in the activity of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.
Reduced erythrocyte pyruvate kinase activity
Reduced red cell pyruvate kinase activity
Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.
Sound sensitivity impliees a difficulty tolerating sounds which do not seem loud or unpleasant to others.
An adverse response (dislike) to sound no matter what volume the sound is, characterized by a strong negative reaction to soft sounds that can sometimes be further triggered by seeing the source of the offending sound.
Hypergranulosis is an increased thickness of the stratum granulosum.
Note that the epidermis includes five main layers: the stratum corneum, stratum lucidium, stratum granulosum, stratum spinosum, and stratum germinativum. This term refers to thickening that primarily affects the stratum granulosum.
Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant
The presence of numerous civatte bodies (CBs) in biopsies is a characteristic finding in skin lesions of patients with various dermatoses, particularly lichen planus (LP) and discoid lupus erythematosus (DLE). Achille Civatte (1877-1956) was a French dermatologist.
An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.
Fetal distress in itself is a non-specific term as the various parameters characterizing the type and degree of distress are themselves ill defined. Nonethless the term is in broad clinical use and thus is included as an HPO term. It is preferable to annotate with more precise terms if possible.
Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.
Lightening or darkening of the lips from their usual coloring.
An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.
This feature may be seen rarely as a paraneoplastic manifestation.
A type of focal seizure (i.e., affecting initially only one hemisphere of the brain) that is simple (not resulting in alteration of consciousness) that originates in the occipital lobe. Visual hallucinations are the hallmark of occipital seizures, but are not invariably present. Hallucinations typically commence in the visual field contralateral to the affected visual cortex and then spread to involve the entire visual field. Elementary visual seizures are characterized by fleeting visual manifestations which may be either positive (flashes, phosphenes) or, less commonly, negative (scotoma, hemianopia, amaurosis). Positive phenomena are usually flashes of colour or light, which are simple in shape and may be static or mobile.
The major differential diagnosis is migraine. In occipital seizures, stereotyped visual hallucinations manifest as multiple bright coloured balls or circles which multiply, change in size, move horizontally, may flash, and last for seconds. In migraine, visual symptoms manifest as black and white, flickering, linear, zigzag patterns in the central field, gradually expanding and lasting for minutes
A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.
Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.
A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.
White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps od surface ulcerations and collapsed bullae can appear white.
A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.
A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.
Up to ten percent of untreated actinic keratoses develop into squamous cell carcinoma of the skin.
An abnormally reduced amount of adipose tissue in the abdominal cavity.
A structural anomaly of the mucous lining of the small intestine.
Abnormal small intestinal mucosa morphology
Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.
Decreased small intestinal mucosa lactase activity
Enlargement of the soft tissues of one or more fingers.
A deviation from normal concentration of the hormone estrogen in the blood circulation.
Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3).
A deviation from normal concentrations of estradiol in the circulation.
Estradiol is the most biologically prevalent and active compound of a class of steroids called estrogens
An elevation above normal limits of the concentration of estradiol in the circulation.
A deviation from normal concentration of estriol in the circulation.
An elevation above normal limits of estriol concentration in the circulation.
A reduction below normal limits of estriol in the circulation.
A deviation from the normal concentration of circulating estrone.
An elevation above normal limits of the concentration of estrone in the circulation.
A reduction below normal limits of the concentration of estrone in the circulation.
Ectopic deposition of calcium salts found in the gingiva.
A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.
Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting.
The word chills can also refer to an episode of shivering, accompanied by paleness and feeling cold.
Involuntary contraction or twitching of the muscles.
Shivering is a physiologic method of heat production in man and other mammals. Shivering is a bodily function in response to fever, early hypothermia or feeling cold.
Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.
A sudden attack of severe shivering accompanied by chills (a feeling of coldness) is called a rigor and may be associated with a marked rise in body temperature. Patients often describe rigors as an attack of uncontrollable shaking. Rigors are often a sign of infection, particularly bacterial infection.
Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.
A shiny appearance of the macula, which is often called a beaten bronze appearance.
This feature may be seen in Stargardt disease.
A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).
The cause of dark choroid is thought to relate to the deposition of an abnormal material (lipofuscin) in the retinal pigment epithelial cells.
Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.
Enteric ganglia are the nerve cell clusters (groups of nerve cell bodies) that are involved in mediating the muscular activity of the intestines.
Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.
Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.
A failure to meet age-related milestones in areas such as (i) focusing ability, (ii) eye coordinationg and tracking of objects in the visual field, (iii) depth perception, (iv) color perception, and (v) object and face recognition. These milestones are generally met in the first three months of life, and failure to meet them may indicate abnormal visual development or function.
Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.
Presence of biliary veins that serve as a collateral channel to the systemic circulation
Venous blood returning from the small intestine, stomach, pancreas and spleen converges into the portal vein. The terminal branches of the hepatic portal vein and hepatic artery empty together and mix as they enter sinusoids in the liver. Conditions such as liver cirrhosis, in which scar tissue partially blocks the normal flow of blood, may increases the pressure in the portal vein (portal hypertension).When blood flow through a vessel or a vascular bed is obstructed due to occlusion, collateral pathways open up as blood bypasses the occlusion or obstruction, and this can lead to portosystemic collateral veins in the case of cirrhosis and some other hepatobiliary diseases.
A functional anomaly of the hepatobiliary system
Abnormality of hepatobiliary system physiology
Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.
Total parenteral nutrition (TPN) refers to the application of an intravenous nutritional solution in individuals with gastrointestinal disorders that prevent them from absorbing a sufficient amount of nutrients from the gut to maintain health. The solution contains protein, carbohydrates (in the form of glucose), glucose, fat, vitamins, and minerals. Dependency on TPN is essentially a manifestation of the continued severity of a gastrointestinal disorder.
An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.
Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual.
Temper tantrums that occur more frequently than usual.
Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes.
A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.
An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.
Increased number of elastic fibers in the dermis
Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).
Clumping of elastic fibers in the dermis
An increase of the diameter of elastic fibers in the dermis.
Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.
Abnormal function of the left ventricule during left ventricular relaxation and filling.
Diastolic left ventricular disease can cause of limitation of exercise tolerance, whether or not ejection fraction is normal. This feature can be assessed by cardiac imaging.
Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.
A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.
Neuronal/glioneuronal neoplasm of the CNS
Neuronal/glioneuronal neoplasm of the central nervous system
A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumour predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.
Rosette-forming glioneuronal tumor of the fourth ventricle
Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.
Smooth septal thickening on pulmonary HRCT
Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.
Nodular septal thickening on pulmonary HRCT
Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.
Irregular septal thickening on pulmonary HRCT
Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis.
Pathologically, honeycombing is manifested as small air-containing cystic spaces that are lined by bronchiolar epithelium and have thickened walls of dense fibrous tissue. On high-resolution CT, honeycombing presents with a characteristic cystic appearance. The cystic spaces range from 3 mm to 1 cm in diameter, although they can be larger. The cystic spaces are characterized by well delineated walls 1 to 3 mm in thickness. The cysts are air-filled and appear lucent in comparison to normal lung parenchyma. Honeycombing is a manifestation of end-stage lung fibrosis.
A fine reticular pattern on high-resolution computeed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.
Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.
Peribronchovascular interstitial thickening
Increase in thickness of the subpleural interstitium.
Subpleural interstitial thickening can be difficult to recognize where the lung contacts the chest wall or mediastinum but is easy to delineate adjacent to the major fissure. Thickening of the fissure visible on high-resolution computer tomography may represent subpleural interstitial thickening.
A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings.
Ground-glass opacification is a non-specific sign and can be observed with many conditions including infection, chronic interstitial disease and acute alveolar disease.
Ground-glass opacification on pulmonary HRCT
A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.
Centrilobular ground-glass opacification on pulmonary HRCT
An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.
A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.
Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing.
Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.
This term refers to the appearance of the retinal vessels on fundoscopy or other investigations. Retinal vasculitis may be associated with other manifestations such as visual impairment.
A type of generalized tonic-clonic seizure that occurs in and rapidly engages bilaterally distributed networks.
Generalised tonic-clonic seizures without focal onset
Primarily generalised tonic-clonic seizures
Primarily generalized tonic-clonic seizures
Primary generalised tonic-clonic seizures
Primary generalized tonic-clonic seizures
Generalized tonic-clonic seizures without focal onset
Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).
Subtentorial periventricular white matter hyperdensity
A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.
An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.
Morgagni hernias are generally accompanied by a hernia sac, and often do not cause symptoms in the newborn period.
A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.
An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.
Iron is transported to body tissues by a protein, transferrin, in plasma. This protein has two high-affinity binding sites for iron. Determination of total iron-binding capacity (TIBC) of the plasma therefore gives a measure of transferrin, although it can also be directly determined. Virtually all plasma iron (P1) normally is bound to transferrin, and measurement of P1 is assumed to reflect the amount of transferrin iron. The expression transferrin saturation, expressed as percent [(P1/TIBC) x 100], indicates the availability of iron to tissues. As transferrin saturation increases, there is an increase in the amount of diferric transferrin, which has a greater capacity to deliver iron than does monoferric transferrin. Measurements of P1, TIBC, and transferrin saturation have served several purposes in clinical medicine. The P1 concentration and (particularly) transferrin saturation relect the adequacy of iron supply. A saturation of less than 16% indicates a deficient iron supply, whereas a saturation of over 60% as measured on more than one occasion represents excessive iron loading owing to increased iron absorption or liver disease. An increased transferrmn concentration as reflected in the TIBC indicates iron depletion if the effects of estrogen and pregnancyare excluded. Other characteristic changes inboth P1 and TIBC are useful in the differential diagnosis of various diseases, for example, the decrease in transferrin saturations associated with a decreased transferrin concentration in inflammatory states.
A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.
A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.
The condition inflammatory cap polyposis is characterized by the presence of multiple inflammatory cap polyps in the large intestine.
Accumulation in muscle cells of filaments composed of actin.
Muscle fiber actin filament accumulation
A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.
An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.
Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.
Caput medusae is a sign of severe portal hypertension with portal-systemic shunting through the umbilical veins. The name refers to Medusa's hair once Minerva had turned it into snakes. Caput Medusae can be distinguished from inferior vena cava obstruction by determining the direction of flow in the veins below the umbilicus; it is towards the legs in caput medusae, and towards the head with inferior vena cava obstruction.
A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.
Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.
Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.
Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.
Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.
Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.
Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.
Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.
Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).
Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.
Triggered by ingestion of lactose-containing milk
Applies to a sign or symptom that is provoked or brought about by exposure to heat.
Applies to a sign or symptom that is provoked or brought about by febrile illness.
Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.
Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.
Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.
Applies to a sign or symptom that is provoked or brought about by a vaccination.
Applies to a sign or symptom that is provoked or brought about by menstruation in a female.
Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.
Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.
Applies to a sign or symptom that is provoked or brought about by smoking.
Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.
Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.
For instance, seizures associated with autosomal dominant partial epilepsy with auditory features may be triggered by certain sounds such as telephone ringing or speech.
Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.
Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.
Applies to a sign or symptom that is provoked or brought about by a sudden movement.
Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.
A structural anomaly of a synovial bursa.
A synovial bursa is a small fluid-filled saclike cavity that facilitates the gliding of muscles or tendons over bony or ligamentous surfaces. There are numerous synovial bursae in the body, for instance at the shoulder, elbow, knee, and hip.
Abnormality of synovial bursa morphology
An inability to move the body at sleep onset or upon awakening from sleep lasting seconds to a few minutes.
An undesirable physical event or experience that occur during entry into sleep, during sleep, or during arousal from sleep.
A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).
NREM parasomnias usually occur within a few hours after sleep onset, episodes last from a few minutes to as long as 30-40 min, and are characterised by amnesia for the event.
Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated.
During an episode of sleepwalking, the sonambulating child typically appears clumsy and might perform unusual actions such as urinating in a closet. Injuries can occur during sleepwalking, including falling downstairs or after leaving the house.
A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.
A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.
Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians use the terms inter-changeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.
Clinically speaking, distinguishing between preretinal and subhyaloid hemorrhages is difficult. Therefore, clinicians often use the terms interchangeably. A D-shaped or boat-shaped appearance may be observed, because the blood accumulates within loosely adherent tissue of the superficial retina and can spread and settle inferiorly with gravity. A sharp demarcation line is usually evident.
A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).
Flame-shaped hemorrhages are typically located in the posterior pole and tend to resolve within around six weeks. THeir pathophysiology is thought to reflect ischemic leakage from arterioles or veins that are ischemic or, in the case of veins, under high pressure.
Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.
Dot-ant-blot Intraretinal hemorrhages take longer to resolve than superficial hemorrhages because they're deeper than flame-shaped hemorrhages.
Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.
Subretinal hemorrhages are located deep in the retina, displaying a dark coloration with the retinal vessels clearly visible above. Subretinal hemorrhages tend not to be well delineated because of the lack of firm attachments between the neurosensory retina and the retinal pigment epithelium, allowing the blood to spread.
An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.
Subretinal pigment epithelium haemorrhage
Subretinal pigment epithelium hemorrhage
A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.
In contrast to cysts, vesicles, pustules and bullae do not have a complete epithelial lining and are therefore less well demarcated.
Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.
Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts.
A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.
A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.
Eruptive vellus hair cysts result from occlusion and cystic dilation of vellus hair follicles.
A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.
A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.
An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.
An abnormal fear of being in a closed or narrow space with no escape.
An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable
Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.
Applies to a sign or symptom that is improved or made more bearable by heat (including fever).
Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).
A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.
A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.
A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.
Degeneration (wear and tear) of the articular cartilage of the neck joints.
Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping.
Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.
A sudden episode of intense fear in a situation in which there is no danger or apparent cause. The panic attack is accompanied by symptoms such as palpitations, sweating and chills or hot flushes. There may be a sensation of dyspnea (being out of breath), chest pain, or abdominal distress. Some indiviudals with panic attacks may experience depersonalization, a fear of going crazy, or a fear of dying.
Any physiological abnormality of the esophagus.
Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.
Symmetrical, blotchy, brownish facial pigmentation.
Melasma can be seen in individuals who have had substantial exposure to the sun, in pregnant women, with hormone treatments or as a side effect of certain medications, or with hypothyroidism, among other causes.
An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.
Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.
Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.
Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).
Sweating provoked by cold temperature rather than by heat.
A pain characteristic is defined as a subjective category or type of pain.
Applied to pain that is described as sharp, i.e., sudden and severe.
Applied to pain that is dull, i.e., not severe but that continues over a long period of time.
Applied to pain that is tender, i.e., elicited by touching the affected body part.
Applied to pain that wakes the affecting individual from sleep.
An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.
Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.
Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.
Applies to an abnormality that affects the arms, trunk, head more than the legs.
Applies to an abnormality that affects the legs more than the arms, trunk, head.
Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).
Applies to an abnormality whose localization corresponds to the lines of Blashko, which are thought to reflect the pathways of epidermal cell migration and proliferation during the development of the fetus.
Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.
This distribution can be seen with certain skin findings such as shingles. The term radicular is used to describe a dermatomal distribution of nerve root pain.
Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.
Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.
Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).
An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.
This type of rash is seen in lupus erythematosus, but also in other diseases such as rosacea and seborrheic dermatitis.
Applies to an abnormality that occurs in or is exacerbated during the night.
Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.
Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurences are separated by an interval in which the sign, symptom, or manifestation is not present.
In our definition, episodic is synonymous with intermittent and recurrent. The term does not imply any particular temporal pattern of the recurrence.
Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.
Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).
Acute appearance of disease manifestations in a period of minutes.
Acute appearance of disease manifestations in a period of hours.
Acute appearance of disease manifestations in a period of days.
A deviation from the normal circular shape of the pupil
An abnormal pupil shape that is elliptical, i.e., egg-like.
A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.
A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.
A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.
A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.
Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease is an autosomal recessive disorder characterized by ataxia, spasticity, and variable optic atrophy. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma.
A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.
Normally, if the arm is held in full extension, the forearm is aligned in valgus with respect to the arm. A decrease in valgus with neutral alignment (loss of angulation) is called cubitus rectus, and a further decreases is called varus. Cubitus varus may be congenital (often progressive), or may be a complication of humerus fracture, trochlear osteonecrosis, and malunited intercondylar fracture. Radiographically, the metaphyseo-diaphyseal angle is normally 90 degrees. With cubitus varus, the angle is larger, with cubitus valgus, the angle is smaller.
A malignant neoplasm originating from the surface ovarian epithelium.
Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.
Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.
Leakage can be caused by incompetent blood vessels such as with choroidal or diabetic neovascularization. Alternatively, leakage can be associated with a diseased retinal pigment epithelium resulting in leakage of fluorescein from the choroid.
Leakage of dye on fundus fluorescein angiography
An anomalous build up of copper (Cu) in the liver.
Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.
Blockage of blood flow through an artery.
Decreased density/number and/or decreased diameter of medial eyebrow hairs.
Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.
Retinal artery occlusion can manifest as painless loss of monocular vision.
Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.
The thickness of the renal parenchyma decreases with age. The thickness of the renal parenchyma is correlated with renal function.
Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.
The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.
The enzyme called glutamate decarboxylase or glutamic acid decarboxylase (GAD) catalyyzes the conversion of glutamate to gamma aminobutyric acid (g-Amino butyric acid, GABA). Autoantibodies against GAD this antibody may block the conversion of glutamate to GABA. and lead to a reduction in the amount of GABA in the nervous system.
Anti-glutamic acid decarboxylase antibody positivity
A limitation of the ability to direct one's gaze below the horizontal meridian.
A limitation of the ability to direct one's gaze above the horizontal meridian.
An anomaly of the outer shell (cortex) of a foot bone.
A reduction in the thickness of the outer shell (cortex) of foot bones.
Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).
A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
A ring of redness at the limbus of the eye, the border between the cornea and the sclera.
Prominence of blood vessels of the superficial episcleral tissues.
The episclera is a fibroelastic structure with two loosely joined layers. The superficial layer contains vessels of the superficial episcleral capillary plexus that appear straight and are arranged in a radial fashion. The deeper layer contains a highly anastomotic network of blood vessels. The episclera and sclera have a separate blood supply from that of the conjunctiva. Conjunctival hyperemia can be distinguished from episceral hyperemia because conjunctival hyperemia is characterized by finer, less tortuous vessels but deeper episcleral hyperemia maybe violaceous. The conjunctival vessels but not the deeper vessels can be moved by massaging with a cotton swab.
Prominence of blood vessels of the deep episcleral tissues.
An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.
Keratic precipitates may collect in a triangular pattern called Arit triangle with the base down on the lower part of theendothelial surface or may be distributed diffusely accross the endothelium. If they are greasy in appearance, the term mutton fat keratic precipitate is used.
Blockage of blood flow in the central retinal artery.
Central retinal artery occlusion canmanifest as sudden, acute, and painless loss of vision in one eye.
Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.
Most individuals with lupus anticoagulant do not have lupus erythematosus or other systemic autoimmune disorders. One of the tests for lupus anticoagulant is the dilute Russell's viper venom time (dRVVT).
Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).
In primary biliary cirrhosis, interlobular bile duct destruction is immune mediated.
A deviation from the normal concentration of beta-2-microglobulin in the blood.
Abnormality of circulating beta2 microglobulin level
Abnormality of circulating beta2-m level
Abnormality of circulating beta-2-microglobulin level
Elevated concentration of beta-2-microglobulin in the blood.
Elevated circulating beta-2-microglobulin level
Increased circulating beta-2-microglobulin level
Reduced concentration of beta-2-microglobulin in the blood.
Reduced circulating beta-2-microglobulin level
Decreased circulating beta-2-microglobulin level
An anomaly of the margin of the cornea overlapped by the sclera.
Swelling of the margin of the cornea overlapped by the sclera.
Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.
A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.
Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation.
Autosomal dominant germline de novo mutation
A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.
Sp100 is the main antigenic target of MND reactivity. Anti-MND activity can be seen in primary biliary cirrhosis and in other conditions.
Anti-multiple nuclear dots antibody positivity
An anomaly of cellular morphology or physiology.
Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative.
Retinal arterial macroaneurysms can be visualized on fundoscopy and by fluorescein angiography or spectral-domain optical coherence tomography.
A behavioral anomaly characterized by reduced mental and motor activity. Psychomotor retardation is a compound anomaly of behavior characterized by abnormalities of speech (Increased pauses, decreased volume, reduced articulation, reduced tone and infection, delayed response), eye movent (fized ganze and poor eye contact), gross movement (Decreased and/or slowed movement of hands, legs, torso, head), slumped posture, flat facial expression, and increased self-touching.
A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.
Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599.
Presence of iris pigment epithelium on the anterior surface of the iris.
An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).
Increased number of calices of the kidney.
A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.
Abnormality of medullary pyramid morphology
Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.
Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.
The endocapillary compartment of the glomerulus includes the endothelial cells, mesangial cells, and any leukocytes in the capillary lumens or mesangium.
Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.
Extracapillary glomerular hypercellularity
A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.
A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).
Increased thickness (dimension along the axis of the bone) of the growth plate.
Abnormal bone tissue formation (ossification) affecting the sacrum.
Formation of the sacrum bone tissue occurs later than age-adjusted norms.
Particularly loud snoring, snoring at high volume.
Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.
The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.
The odontoid process forms from different ossification centers. Two centers normally appear on each side of the midline around the fifth or sixth month of fetal life. These two centers usually fuse by one year of age. When there is a delay in fusion, a longitudinal midline cleft may be seen. Duplication of the odontoid process most likely is the result of a lack of fusion of these two centers of ossification [from PMID:9367321].
Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.
An increased concentration of glutamine in the urine.
Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.
For convenience, several HPO terms exist with the phrase 'Exercise-induced' in their label. This is meant to be logically equvalent to the combination of the basis term and this modifier.
The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.
Thyroid peroxidase (TPO) antibody positivity is found in most patients with chronic lymphocytic thyroiditis (Hashimoto disease) and over half of patients with Graves disease.
Anti-thyroid peroxidase antibody positivity
Increased level of circulating 4-androstenedione.
4-Androstenedione is the common precursor of the androgen and estrogen sex hormones and is produced in the adrenal glands and the gonads.
Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.
The presence of autoantibodies (immunoglobulins) in the serum that react against pituitary tissue.
Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.
An area of fat accumulation at the back of the neck in the form of a hump.
Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.
In certain diseases such as multiple symmetric lipomatosis, lipedema and Dercum's disease, accumulation of subcutaneous adipose tissue may result from growth of an abnormal brown stem cell population or from vascular or lymphatic dysfunction, with the result that the subcutaneous adipose tissue is difficult or impossible to reduce by caloric limitation and increased energy expenditure.
Diet-resistant subcutaneous adipose tissue
Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.
Diet-resistant subcutaneous adipose tissue below waist
Depression of profile in both temporal regions.
A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.
The name pill rolling derives from the movements that pharmacists made in earlier times when making pills by rolling them together.
A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.
The vast majority of thyroid nodules are benign (noncancerous), but a small proportion of thyroid nodules do contain thyroid cancer.
High-resolution computed tomography (HRCT) can distinguish findings that characterize characterise interstitial lung diseases in a way not possible with other modalities.
Pulmonary interstitiatial HRCT abnormality
Pulmonary interstitial high-resolution computed tomography abnormality
On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh.
The constituents of the reticular pattern may be all or some of the following: interlobular septal thickening, intralobular interstitial thickening, wall cysts of honeycombing, peribronchovascular interstitial thickening and traction bronchiectasis/bronchiolectasis
The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones.
A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.
Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.
Reticulonodular pattern on pulmonary HRCT
On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.
Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,
Combined cystic and ground-glass pattern on pulmonary HRCT
Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.
Decreased attenuation pattern on pulmonary HRCT
A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.
Mosaic attenuation pattern may represent patchy interstitial disease, obliterative small airways disease, or occlusive small vascular disease.
Mosaic attenuation pattern on pulmonary HRCT
A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.
Nodular-perilymphatic pattern on pulmonary HRCT
A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.
The pattern reflects a spectrum of endobronchiolar and peribronchiolar disorders, including mucoid impaction, inflammation, fibrosis and occasionally endovascular disorders such as neoplastic processes.
Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT
A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.
Miliary tuberculosis and miliary metastasis are two diseases entities that can be characterized by a ranom nodular pattern on pulmonary HRCT.
Nodular-random pattern on pulmonary HRCT
An abnormality in which the eyes are held permanently wide open.
This is a neurological anomaly that can be observed in Parkinson and certain other diseases.
Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.
A habitual positioning of the body with the head and upper back bent forward.
Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.
A deficit in the ability to fixate eye movements in order to stabilize images on the retina
A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.
Asthenia is to be distinguished from fatigue, because asthenia refers to a sensation of exhaustion which occurs before any effort. Asthenia is to be distinguished from myasthenia, which means a specific weakness of one or more muscles.
An abnormal connection (fistula) between the rectum and the urethra.
Any anomaly of the structure of the spleen.
Any anomaly of the function of the spleen.
Joining of the spleen and a gonad during embryological development.
The spleen is located in close proximitiy to the gonads during early embryological development, which may facilitate fusion. Splenogonadal fusion may be divided into continuous or discontinuous types, with the gonad being directly attached to the spleen in the continuous type . The discontinuous type consists of gonadal fusion with an accessory spleen or ectopic splenic tissue.
A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.
The fossa navicularis is the small normal dilatation of the distal penile urethra.
A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.
A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.
A narrowing of the vagina owing to scar formation.
Urethra more open or expanded than normal.
Death of tissue in the outer part of the kidney.
Renal cortical necrosis is a type of actue kidney injury that results from insufficient perfusion of the renal cortex. The diagnosis can be confirmed by computed tomography angiography and in some cases biopsy.
An air-filled cystic space within a lung.
A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.
Diffuse alveolar hemorrhage is a life-threatening and medical emergency that can be caused by numerous disorders and presents with hemoptysis, anemia, and diffuse alveolar infiltrates.
The presence of free air in the mediastinum.
Spontaneous pneumomediastinum (SPM) is defined as the non-traumatic presence of free air in the mediastinum in a patient with no known underlying disease. The most common etiology for SPM is alveolar rupture, most commonly due to an asthma exacerbation, but also seen with barotrauma, intrathoracic pressure increase, the valsalva maneuver, and withdrawal symptoms of illicit drugs. Other causes of pneumomediastinum include coughing, mechanical ventilation, pneumonitis, emphysema, lung fibrosis, acute respiratory distress syndrome, heroin, marijuana, cocaine use, gas producing infections in the head and neck, tracheobronchial or esophageal rupture and facial fractures that lead to disruption of maxillary sinus walls.
A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.
Pleuropericardial cysts usually are congenital anomalies. after the third week of gestation, the mesoderm separates itself to form pleural, pericardial and peritoneal spaces. Incomplete partitioning can result in a pleuropericardial cyst.
Any anomaly of the structure of the larynx.
Any anomaly of the function of the larynx.
A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.
Any anomaly of the morphology of the bronchi.
Any anomaly of the function of the bronchi.
A spasm (sudden, involuntary constriction) of the bronchioles.
Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.
A type of crying in an abnormally high-pitched voice.
This type of cry may be observed with cerebral irritability due to factors such as meningitis, hydrocephalus, or kernicterus. High-pitched cry may also be observed with other conditions including Cornelia-de-Lange syndrome.
A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.
A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.
Reduced activity of the enzyme lecithin cholesterol acyl transferase.
Lecithin cholesterol acyl transferase (LCAT) is a plasma enzyme which esterifies cholesterol, and plays a key role in the metabolism of high-density lipoprotein cholesterol (HDL-C).
Decreased lecithin cholesterol acyl transferase activity
A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.
Individual complement components can be quantified however this does not provide any information as to the activity of the pathway. The CH50 is a screening assay for the activation of the classical complement pathway and it is sensitive to the reduction, absence and/or inactivity of any component of the pathway. The CH50 tests the functional capability of serum complement components of the classical pathway to lyse sheep red blood cells (SRBC) pre-coated with rabbit anti-sheep red blood cell antibody (haemolysin). When antibody-coated SRBC are incubated with test serum, the classical pathway of complement is activated and haemolysis results. If a complement component is absent, the CH50 level will be zero; if one or more components of the classical pathway are decreased, the CH50 will be decreased.
An elevated activity of the enzyme lactate dehydrogenase in serum.
Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate.
Increased lactate dehydrogenase activity
Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.
Inflammation (due to infection or irritation) of the pharynx.
Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.
Warm reactive antibodies react with the patients own RBCs and typically bind to all reagent or donor RBCs against which they are tested. However, they sometimes have specificity (absolute or relative) for a blood group antigen, most commonly a member of the Rh blood group system. Warm reactive autoantibodies are usually polyclonal IgG antibodies, although IgA or monomeric IgM antibodies are seen occasionally.
Ectopic deposition of calcium salts in the Achilles tendon.
An abnormality of the function of the cardiac atria.
A decrease in the volume (size) of the amygdyla.
Any structural anomaly of the papillary muscles of the left ventricle.
There are normally two papillary muscles. The antero-lateral papillary muscle is located in the apical third of the ventricular wall, and the postero-medial papillary muscle is located in the middle third of the ventricular wall. The antero-lateral papillary muscle is usually composed of one body or head, and the postero-medial papillary muscle usually with two bodies or heads. Each papillary muscle provides chordae to both leaflets of the mitral valve, with one of the major functions of the papillary muscles being to prevents prolapse of anterior and posterior cusps of mitral valve during systole.
Morphological abnormality of the papillary muscles
A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.
This malformation consists of a direct continuity between a hypertrophied papillary muscle and the anterior mitral leaflet (Normally, the papillary muscle is connected to the leaflet via the chordae tendinae). Themalformation can be identified echocardiographically. It results in a long rigid area of mid-cavity narrowing that in turn can cause left ventricular outflow tract obstruction.
Anomalous insertion of papillary muscle directly into anterior mitral leaflet
Abnormal location of the insertion of a papillary muscle into the left ventricular wall.
Abnormally anterior location of the papillary muscles of the left ventricle.
Possible mechanisms for systolic anterior motion with anterior displacement of the papillary muscles (PM): (1) the normal posterior component of PM tension is reduced by anterior displacement of the muscle tips; (2) interposing the leaflets into the streamlines of flow causes drag forces with an anterior component; and (3) pulling up the posterior leaflet so that it meets the anterior leaflet closer to its base creates a long, overlapping residual leaflet, as seen clinically. This leaflet portion is relatively free to move anteriorly, unlike the coapted leaflet bodies that are restrained by the balance of ventricular and atrial pressures acting across them. The angle between the posterior leaflet and posterior wall is increased [PMID:7850958].
Anterior displacement of the papillary muscles
Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,
Apically displaced anterolateral papillary muscle
Testicular adrenal rest tumor (TART) isa abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.
A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.
Pyoderma gangrenosum can occur on any skin surface, but is most commonly seen on the legs. Patients are often systemically unwell with symptoms such as fever, malaise, arthralgia, and myalgia. Lesions are usually painful and the pain can be severe. When the lesions heal the scars are often cribriform. About half of the cases are associated with underlying systemic conditions, such as inflammatory bowel disease, arthritis, and haematological malignancies.
Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.
Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.
CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal.
Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.
CSF total protein level is below the lower limit of normal.
Decreased cerebrospinal fluid total protein
CSF albumin level is below the lower limit of normal.
An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.
An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).
Myo-Inositol (MI) is one of the most abundant metabolites in the human brain located mainly in glial cells and functions as an osmolyte. The concentration of MI is altered in many brain disorders including Alzheimer's disease and brain tumors.
An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.
An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.
Increased reactive oxygen species production
A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.
The name beta globulin comes from the fact that protein electrophoresis of serum proteins results in a characteristic pattern of albumins, alpha, beta, and gamma globulins.
Abnormal circulating beta globulin level
Increased level of beta 2-microglobulins in the urine.
An abnormal loss of anagen (growth phase) hairs.
Anagen effluvium is the result of a disturbance of proliferative activity of hair follicle matrix cells, which leads to the narrowing and subsequent breakage of the proximal portion of hair shafts. This type of hair loss can be caused by systemic chemotherapy or by radiotherapy to the head.
A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.
A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.
A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.
A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.
A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.
A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.
Numerous tones of red ranging from pink to violaceous are subsumed under the category of erythematous.
Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.
Testicular lipomatosis may be a sign of Cowden disease.
Calcified deposits in soft tissue structures outside a joint.
Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.
Neglecting one's own needs and well-being.
A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.
Absence of one half of the vertebral body in the cervical spine.
An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate dischanrge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.
Individuals with Pendred syndrome may show a positive perchlorate discharge test.
A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.
Abnormal circulating thyroglobulin level
An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.
Increased circulating thyroglobulin level
Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.
Spontaneous vaginal adenosis appears to be a fairly common (present in about 10% of adult women) but mostly insignificant coincidental finding. In women prenatally exposed to diethylstilboestrol (DES), vaginal adenosis may arise in up to 90% and is associated with a high risk of vaginal carcinoma.
A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.
Detrusor sphincter dyssynergia (DSD) is associated with neurologic conditions such as spinal cord injury, multiple sclerosis, and spina bifida and some of these neurogenic bladder patients with DSD may be at risk for autonomic dysreflexia, recurrent urinary tract infections, or upper tract compromise if the condition is not followed and treated appropriately. It is diagnosed most commonly during the voiding phase of urodynamic studies using EMG recordings and voiding cystourethrograms, although urethral pressure monitoring could also potentially be used.
A congenital anomaly characterized by the presence of two bladders.
A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.
Myocardial bridging, in which a tunneled segment of the artery under the bridge of overlying myocardium frequently results in vessel compression during systole. While frequently asymptomatic, this condition in many cases may be responsible for adverse complications including angina, myocardial ischemia, acute coronary syndromes, left ventricular dysfunction, arrhythmias, and even sudden cardiac death.
Narrowing of a vein due to intimal hyperplasia and fibrosis.
Venous stenosis can be secondary to placement of central venous catheters, pacemaker leads, hemodialysis catheters, prior radiation, trauma, or extrinsic compression by musculoskeletal structures.
A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.
Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.
Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans
This feature is characteristic of Erdheim Chester disease.
Significant luminal narrowing of a long segment of the descending aorta.
Coarctation of the aorta is defined as significant luminal narrowing of the aorta that produces hemodynamically significant obstruction to the flow of blood. This process may affect a short isolated segment of the aorta or a longer and more diffuse segment. When longer segments of the aorta are narrowed, the term hypoplasia is often used. Much less common than segmental coarctation, aortic hypoplasia has been described in all portions of the thoracic and abdominal aorta.
Any anomaly of the function of a coronary artery.
A brief and sudden narrowing of a coronary artery.
Severe chest pain, usually without physical effort and with a concurrent ECG showing transient ST elevation, is the key for the diagnosis of coronary artery spasm.
Obesity with a body mass index of 30 to 34.9 kg per square meter.
Obesity with a body mass index of 35 to 39.9 kg per square meter.
Obesity with a body mass index of 40 kg per square meter or higher.
Increased body weight with a body mass index of 25-29.9 kg per square meter.
Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.
There are three sinus in the wall of the aorta just superior to the aortic semilunar valve. The right coronary artery normally arises from the right sinus of Valsalva (RSV) of the ascending aorta. The left main coronary artery (LMCA) normally arises from the left sinus of Valsava. The third sinus, the right posterior aortic sinus does not normally give rise to a coronary artery.
Anomalous coronary artery arising from the opposite sinus
The circumflex coronary artery originates from the right aortic sinus of Valsalva.
Anomalous origin of the circumflex artery from the right sinus of Valsalva
Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,
Anomalous coronary artery with aortic origin and course between the great arteries
Further synonyms include Anomalous origin of the coronary artery from the opposite sinus of Valsalva with an interarterial course and Anomalous origin of the coronary artery from the wrong sinus of Valsalva with a proximal course between the aorta and pulmonary artery
The yellow color may be related to lipid accumulation such as xanthomata or sebaceous gland lesions. This term additionally includes lesions described as yellow-orange.
Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.
Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.
A tan, regularly bordered patch with darker macules within the lesion.
A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.
A papule with the same color as the surrounding skin.
Scleral rupture may occur following trauma or may be observed with some types of Ehlers Danlos syndrome and other disorders. The rupture may be hidden by an intact conjunctiva.
An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.
The name of this anomaly derives from a perceived similarity of the anomaly to the morning glory flower.
Later than normal development of the breasts.
A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.
An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.
With visual gaze preference due to an acute supranuclear cerebral lesion, the oculocephalic reflex (which can be elicited by the so called Doll's head manoeuvre) is intact. The head is briskly turned from side to side with the head held briefly at the end of each turn. If the brainstem and infranuclear pathways are intact, then the eyes rotate to the opposite side to the direction of head rotation. Stroke is the most common etiology of this finding.
Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.
Multiple biliary hamartomas are part of the wider spectrum of ductal plate malformation where there is congenital malformation of the biliary duct. Multiple biliary hamartomas can be diagnosed using magnetic resonance imaging which shows multiple hyper-intense cystic nodules not communicating with the biliary tree. The diagnosis can be confirmed on liver histology. Multiple biliary hamartomas are usually an incidental finding without symptoms. There have been rare associations with development of cholangiocarcinoma.
The lesions observed incalcinosis cutis are firm papules, plaues, or nodules that have a whitish or yellowish color. Lesions may be solitary but it is more common to observe multiple lesions. The lesions may develop ulceration with a discharge of a chalk-like substance. The lesions can be painful, espcially if they are located on the fingertips. Lesions at other sites may limit joint mobility or stiffen the skin.
The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.
Abnormal increased in length of the chordae tendinae of the mitral valve.
Elongated chordae tendinae of the mitral valve
A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.
Abnormal morphology of the chordae tendinae of the mitral valve
Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.
Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.
A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.
A skin lesion with a snake- or serpent-like distribution.
A lesion of the skin with a ring-like distribution.
A nodule of the skin that exhibits an increased amount of pigmentation.
The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.
The Harlequin phenomenon consists of a sudden change in skin colour, resulting in two different body colours, one on each half of the body.
The Harlequin phenomenon (HF) is most common in the newborn and can be a generalized phenomenon or only involve a specific body area. The HF of the newborn is thought to be secondary to a relative hypothalamic control immaturity of the sympathetic peripheral vascular tonus, although it has also been described in other age groups, primarily located to the face and neck and mostly caused by a sympathetic disautonomy. While certainly peculiar, the HF is a benign event in the newborn.
With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.
A positive pathergy test indicates the immune system is overreacting to a minor injury. A positive test result can be seen in Behcet disease and other conditions.
A swelling of the skin in which the skin is tethered by the sweat ducts it contains producing tiny dimples. THe overall appearance is said to resemble the skin (peal) of an orange.
A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.
In ocular melanocytosis, Intraocular pigmentation is also increased, which contributes to a higher incidence of glaucoma and increases the risk of malignant melanoma.
Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.
This feature may be observed with dermatomyositis and polymyositis.
Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.
An abnormal accumulation of fluid beneath the skin on sole of the foot.
An abnormal accumulation of fluid beneath the skin on the palm of the hand.
Any abnormality in the proportion T cells subsets relative to the total number of T cells.
obsolete Decreased activity of complement receptor
A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.
Abnormal mean corpuscular Hb concentration
Abnormal mean corpuscular hemoglobin concentration
A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.
Decreased mean corpuscular Hb concentration
Decreased mean corpuscular hemoglobin concentration
An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).
Increased mean corpuscular Hb concentration
Increased mean corpuscular hemoglobin concentration
A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.
A anomaly in which a part of the retina other than the fovea is used for visual fixation. The fovea usually retains its straight ahead orientation. Eccentric fixation may be present under conditions of viewing with one or both eyes. However, it is more easily diagnosed monocularly (especially if the better eye is covered).
An increase above the normal concentration of ribitol in the blood.
Elevated circulating ribitol concentration
Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).
Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.
Subcutaneous bleeding with a diamter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.
Periorbital ecchymosis with tarsal plate sparing
A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).
Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.
Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.
A type of cataract characterised by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.
Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.
An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the centre of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.
The condition can be precipitated by psychosocial stress and hypercortisolism. Ophthalmoscopic signs of CSC range from mono- or paucifocal RPE lesions with prominent elevation of the neurosensory retina by clear fluid - typical of cases of recent onset - to shallow detachments overlying large patches of irregularly depigmented RPE. The spectrum of lesions includes RPE detachments. Granular or fibrinous material may accumulate in the subretinal cavity. Serous detachment often resolves spontaneously.
Abnormal morphology of the choroidal vasculature
The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.
The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation.
Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).
A type of cataract that shows a spectacular display of multiple colours that glitters with the change of incident light like an illuminated Christmas tree.
Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.
Epiphora is a common complaint encountered by ophthalmologists, with a broad differential diagnosis. One of the least discussed etiologies of epiphora is stenosis of the external lacrimal punctum. When it occurs, the most common presenting symptom is tearing, but patients may have vague complaints of ocular discomfort.
A mild form of myopia with up to -3.00 diopters.
Bleeding occurring within the macula lutea of the retina.
Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.
Any structural anomaly of the principal vein draining blood from the lower portion of the body.
Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.
Any structural abnormality of the left atrium.
Any structural abnormality of the right atrium.
Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.
Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.
This appearance is typically seen in female carriers of X-linked RP associated mutations.
A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.
Tendency for the visual axis of one eye to be higher than that of the other.
A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.
A type of strabismus in which the visual axis of one eye is higher than that of the other.
Hyperphoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypertropia is a manifest deviation in which the eyes are not aligned under binocular conditions.
A type of strabismus in which the visual axis of one eye is lower than that of the other.
Hypophoria is a latent deviation where the eyes remain aligned under normal binocular vision. Hypotropia is a manifest deviation in which the eyes are not aligned under binocular conditions.
Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.
Patients with torsional deviations rarely complain of torsional diplopia and thus, cyclotropia has largely not been of significant clinical concern.
A functional anomaly of the muscles of the eye.
A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.
A neurological examination includes assessment of the trochlear nerve (CN IV) which innervates the superior oblique muscle. The test for CN IV function is for the patient to depress and adduct the eye (ie. to look down and in). This movement is impaired in the presence of a trochlear nerve palsy.
Abnormal superior oblique muscle physiology
Decreased strength of the superior oblique muscle.
Mechanical limitation of the range of movement of the superior oblique muscle.
In contrast to deficits produced by primary muscle weakness, restriction means that the affected extraocular muscle cannot move passively any more than actively.
An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occuring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.
Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.
A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.
The major functions of the inferior oblique muscle are extorsion (external rotation), elevation, and abduction.
Abnormal inferior oblique muscle physiology
Mechanical limitation of the range of movement of the inferior oblique muscle.
In contrast to deficits produces by primary muscle weakness, extraocular muscle restriction cannot move passively any more than actively.
Decreased strength of the inferior oblique muscle.
A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.
A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.
Abnormal inferior rectus muscle physiology
Decreased strength of the inferior rectus muscle.
Mechanical limitation of the range of movement of the inferior rectus muscle.
A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.
Abnormal superior rectus muscle physiology
A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.
Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.
A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.
Abnormal medial rectus muscle physiology
An inward turning (inversion) of the margin of the upper eyelid.
An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.
Cicatricial ectropion may occur owing to burns, lacerations, or infection of the skin of the eyelid.
A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.
A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.
A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).
A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.
A type of focal-onset seizure characterized by alterations in mood or emotion, or the appearance of altered emotion without the subjective emotion, at seizure onset. These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.
An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.
An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.
An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.
Abnormal proportion of CD4+ central memory cells
An abnormally increased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.
Elevated proportion of CD4+ central memory cells
An abnormally decreased proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.
Reduced proportion of CD4+ central memory cells
An abnormal proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.
Abnormal proportion of CD4+ effector memory cells
An abnormally decreased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.
Reduced proportion of CD4+ effector memory T cells
An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.
Elevated proportion of CD4+ effector memory T cells
An abnormally high concentration of oleic acid (oleate) in the blood circulation.
An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).
Increased circulating octadecanoate level
An abnormally high concentration of myristoleate in the blood circulation.
Increased circulating myristoleate level
The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).
The anti-myelin-associated glycoprotein (MAG) neuropathy is an antibody-mediated demyelinating neuropathy. The clinical picture is characterized by a distal and symmetric, mostly sensory neuropathy. Monoclonal immunoglobulin M anti-MAG antibodies are uniquely found in this condition and are believed to be pathogenic.
Anti-myelin-associated glycoprotein antibody positivity
Increased amount of argininosuccinate in the urine.
rgininosuccinate lyase (ASL) belongs to the hepatic urea cycle detoxifying ammonia, and the citrulline-nitric oxide (NO) cycle producing NO. ASL-deficient patients present argininosuccinic aciduria characterised by hyperammonaemia, multiorgan disease and neurocognitive impairment.
Increased amount of alpha-aminobutyric acid in the urine.
An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.
Polymorphonuclear neutrophils comprise more than 60% ofthe circulating white blood cells in humans. They have a central role in innate immunity and they regulate adaptive immunity. In healthy individuals, circulating neutrophils are freely flowing in a resting, dormant state. Upon infection, neutrophils are the first circulating cells to arrive at the infection and inflammatory site. Phagocytosis triggers the activation program of the neutrophils, leading to the intraphagosomal release of antibacterial peptides, proteases, myeloperoxidase, and superoxide anion (O2-), which is produced via the activation of the NADPH oxidase. Superoxide anion is the initiating spark leading to the generation of reactive oxygen species (ROS), i.e., hydrogen peroxide (H2O2), hydroxylradical and hypochlorous acid (HOCl), all contributing to the death and destruction of the bacteria within the phagosome. ROS production by the phagocytes was first referred as the respiratory burst or oxidative burst due to the rapid and cyanide-insensitive increase in oxygen uptake, increase in glucose consumption, andimmediate ROS release. The enzyme system dedicated to superoxide anion production, i.e., the phagocyte NADPH oxidase, a member of the NOX family of proteins also referred as NOX2, is composed of six proteins, two trans-membrane proteins (p22phox and gp91phox) that form theflavocytochrome b558, and four soluble proteins (p47phox,p67phox, and p40phox and the small G-proteins, Rac1/2).
Reduced reactive oxygen species production in neutrophils
Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.
EMG: repetitive nerve stimulation abnormality
A condition in which the eyelids do not close to cover the eye completely.
Some common causes of lagophthalmos are Bell's palsy and other types of facial paralysis, stroke, infection, and trauma. The inability to blink and effectively close the eyes leads to corneal exposure and excessive evaporation of the tear film. The main purpose when treating lagophthalmos is to prevent exposure keratitis and reestablish eyelid function.
The inability to close the eyelids during sleep.
Lagophthalmos is associated with exposure keratopathy, poor sleep, and persistent exposure-related symptoms. There are a variety of causes of lagophthalmos, grouped as proptosis/eye exposure etiologies and palpebral insufficiency etiologies.
A type of lagophthalmos that occurs in association with facial nerve palsy.
Patients with facial nerve palsy have a characteristic facial asymmetry and drooping of the angle of mouth. The temporal and zygomatic branches of facial nerve supply the forehead and eyelid muscles. Their involvement in a disease leads to paralysis of orbicularis oculi muscle resulting in lagophthalmos and ectropion.
A type of lagophthalmos that occurs following trauma or surgery.
Inability to close the eyelids due to scarring
An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.
Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.
These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.
A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent
One of the known risk factors for preterm birth is cervical insufficiency.
Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.
Usually hydrometrocolpos manifests at puberty caused by an obstruction of the female genital tract.The most frequent cause of hydrometrocolpos is the presence of imperforate hymen due to failure of partial resorption of this membrane during the embryonic development.
A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.
Imperformate hymen is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It can be treated by surgical incision of the hymen.
Abnormal female reproductive system physiology
Abnormal female genital system physiology
The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.
Recurrent or persistent genital pain associated with sexual intercourse.
Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two.
Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.
Vaginismus usually develops as a conditioned response to painful penetration, or secondary to psychological/emotional factors.
The tag can be located on either side of the pinna.
Relatively few cases have been reported. Variation from a small notch to complete separation of the helix from the lobe is noted, there may be unilateral or bilateral involvement. The lobe is relatively laterally recessed compared to the upper portion of the ear and the scapha may be absent. This is distinct from a Cleft helix where the cleft is within the helix.
Small cartilaginous prominence on the posterior concha.
This feature is best visualized when the earlobe is tilted anteriorly.
Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.
Pretragal ectopia refers to structures that are frequently complex and should be distinguished from preauricular tags. They may be difficult to distinguish from striated muscle hamartomas or tragal duplications. Pretragal ectopias often appear helix-like, and in such cases may be called Polyotia.
Small indentation in the lower part of the ascending helix, concha, or in the crus helix.
The location of the pits is the plane of fusion of the first branchial cleft.
Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.
This is not to be confused with Lop ear or Satyr ear and may represent an underdevelopment of the upper third of the pinna. This is usually associated with a short ascending helix.
A morphological anomaly of the nasal cartilage.
Failure of development of cartilage of nose
Failure of development of nasal cartilage
This feature may be accompanied by a deficiency of the nasal bone. Absence of the nasal cartilage may lead to a Depressed nasal tip, which should be coded separately.
Divergence of digits along the A/P axis (in the plane of the palm).
This may be associated with Macrodactyly, but this should be assessed and coded separately. The affected digits should be specified.
The absence of all phalanges of a digit and the associated metacarpal /metatarsal.
This descriptor requires, in addition to the absence of the phalanges, absence of the metacarpal or metatarsal. Compare this to Absent thumb, Absent hallux, Absent toes, and Absent fingers. In most cases, the absent metacarpal or metatarsal can be assessed by palpation, but in some cases radiographs may be useful. This definition excludes Split hand and Split foot. If a patient meets the definition of either of those terms, they should be used and Absent ray should not.
Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.
This is an acknowledged bundled term. There are no standards for this finding, clinical judgment must be used. The affected toes should be numbered.
An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.
Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.
This is a bundled term, comprising Short finger and Slender digit, but it is so widely used that it is included. This term is only used if the finger has the normal number of phalangeal segments. An appropriate alternative term for the first digit is Small thumb, when it is the only digit affected. When a thumb and one or more fingers are affected, it may be more economical to specify Small fingers, F1-5 instead of separately specifying Small thumb and Small fingers F2-5.
Presence of abnormal additional layers of the basement membrane of the glomerulus.
Diffuse lamellation of the glomerular basement membrane
Diffuse glomerular basement membrane lamellation
Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).
Inability of the kidneys to produce either concentrated or dilute urine.
Isothenuria is seen in the final stages of renal failure. It reflects rapid flushing of fluid through the tubules in renal failure as the number of functioning nephrons decreases; the normal concentrating (particularly) and diluting mechanisms of the kidney do not have time to function. The consequence is that the specific gravity of the urine becomes approximately the same as that of the glomerular filtrate.
A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.
Most patients have no symptoms. Enchondromas are often identified as incidental findings on X-ray examinations. Enchondromas usually have a radiographic appearance that is long and oval with well-defined margins.
A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.
A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.
A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.
Schmorl's nodes (SN) are common findings on imaging, and although most SNs are asymptomatic, some have been shown to become painful lesions.
Failure to complete ossification (maturation and calcification) of the pubic bone.
Incomplete maturation of the public bone
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.
Alpha-dystroglycan is a component of the Dystrophin Associated Protein complex (DAP) which binds to various ligands in the extracellular matrix of muscle and other tissues, including laminin-alpha2, perlecan, neurexin and agrin. Disruption of the interaction between alpha-dystroglycan and its ligands has severe consequences for muscle and brain function and structure. The pathological hallmark is reduced immunolabeling of skeletal muscle with antibodies recognizing glycosylated epitopes on alpha-dystroglycan.
A morphological anomaly of the lateral ventricle.
There are two lateral ventricles, one on each side of the brain. The lateral ventricle resembles a C-shaped structure that begins at an inferior horn in the temporal lobe, travels through a body in the parietal lobe and frontal lobe, and ultimately terminates at the interventricular foramen of Monro where each lateral ventricle connects to the central third ventricle.
Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.
A collection of pus, immune cells, and other material in the brain.
Brain abscess usually results from a bacterial or fungal infection.
An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis.
There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy.
An abnormal gait pattern characterized by the failue of the heel to contact the floor at the onset of stance during gait.
Heel-to-toe gait is normally achieved in children around three years of age, after which tip-toe gait must be differentiated from habitual toe gait, congenital short tendo calcaneus, cerebral palsy, syringomyelia, spinal tumor, hematoma in a lower limb muscle, or neuromuscular diseases like muscular dystrophy, Charcot-Marie-Tooth disease and hereditary sensorimotor neuropathies. If the toe gait persists for 2-3 years, this gait pattern is not considered to be habitual. Therefore, the judgment of habitual toe gait should not be determined without evaluation for other diseases.
The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Presence of excess fibrous connective tissue surrounding hair follicules.
When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.
Hair that is disorderly, stands out from the scalp, and cannot be combed flat.
The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.
An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).
An abnormal reduction in mitochondrial DNA content of cells.
A neoplasm derived from nervous tissue (not necessarity a neoplasm located in the nervous system).
A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.
A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system.
Patients may present with bitemporal inferior quadrantanopia leading to bitemporal hemianopia, since the tumor may compress the optic chiasm.
A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.
A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.
Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles.
A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.
A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.
Ependymoblastoma is a rare tumor that occurs in infants and young children in the first two years of life. Both sexes are affected equally. Patients present with signs and symptoms of raised intracranial pressure and hydrocephalus. Focal neurological signs may be present in older children. On MRI, ependymoblastomas are large heterogeneously enhancing lesion with associated brain edema and mass effect. Ependymoblastomas are well-circumscribed lesions, with a distinct margin between tumor and normal brain, though focal microscopic extension and leptomeningeal invasion are common. Histologically, an ependymoblastoma is a primitive neuroectodermal tumor with tumor cell arranged in multilayered rosettes consisting of an outer rim of tumor cells merging with the surrounding undifferentiated neuroectodermal cells. The tumor cells are immunopositive for S100, vimentin, cytokeratin and GFAP, and show high mitotic activity.
A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.
Peripheral primitive neuroectodermal neoplasm
A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.
A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.
Primary central nervous system lymphoma (PCNSL) is defined as the involvement of brain, leptomeninges, cerebrospinal fluid, eyes or spinal cord by an extranodal non-Hodgkin lymphoma (NHL) without evidence of a systemic lymphoma at the time of diagnosis. It represents 0.8 to 6.6% of all primary CNS tumors
A primitive neuroectodermal neoplasm that occurs in the central nervous system.
A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.
Medulloepithelioma is a rare primitive neuroectodermal tumour of the central nervous system usually developing in childhood, displaying highly malignant behaviour, with early progression or recurrence.
A tumor that originates in the paranasal sinus.
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.
A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.
Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.
Punctate periventricular T2 hyperintense foci
Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.
Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder.
An excessive desire to eat salt (sodium chloride) or salty foods.
Salt craving can be a sign of low salt levels, Addison's disease, Gitelman syndrome, and other diseases.
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Abnormal concentration of lactate in the cerebrospinal fluid.
Decreased concentration of lactate in the cerebrospinal fluid.
An anomalous concentration of testosterone in the blood.
An elevated circulating testosterone level in the blood.
An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.
Abnormal muscle fiber protein expression
An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.
Abnormal muscle fiber merosin expression
Lack of merosin protein in the muscle biopsy.
Absent merosin staining in muscle biopsy
A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.
A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.
A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.
A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.
A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.
Abnormal muscle fiber dystrophin expression
Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.
A decreased amount of dystrophin in muscle fiber tissue.
Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.
Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.
A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.
Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.
Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.
Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.
Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.
Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.
Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.
A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.
Abnormal muscle fiber alpha dystroglycan
A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-KDa transmembrane protein involved in calcium-mediated sarcolemma resealing.
Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.
Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.
A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.
Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.
Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.
A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.
Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.
Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.
Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).
A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.
A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry of Western blotting of muscle tissue.
A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.
This anomaly is observed at about 3.5 percent of people and is usually bilateral.
Sacralization of the fifth lumbar vertebra
An anomaly of the inner mucous membrane of the uterus.
The growth of endometrial tissue outside the uterus.
The main manifestations of endometriosis are chronic upper abdominal pain and infertility. Endometriosis occurs primarily on the pelvic peritoneum, ovaries, and rectovaginal septum, and in rare cases on the diaphragm, pleura, and pericardium. Endometriosis affects 6 to 10% of women of reproductive age, 50 to 60% of women and teenage girls with pelvic pain, and up to 50% of women with infertility. Peritoneal disease, which is dependent on estrogen for growth, derives from retrograde menstruation of steroid hormone sensitive endometrial cells and tissues, which implant on peritoneal surfaces and elicit an inflammatory response. This response is accompanied by angiogenesis, adhesions, fibrosis, scarring, neuronal infiltration, and anatomical distortion resulting in pain and infertility.
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.
Ristocetin induced platelet agglutination (RIPA) is similar to the Ristocetin Cofactor Assay but RIPA measures platelet agglutination induced by Ristocetin-mediated VWF binding to the platelet Gp1b receptor. WITH RIPA, the ristocetin is added directly to the patient's platelet rich plasma and there are no serial dilutions of the plasma sample.
Impaired ristocetin cofactor assay activity
Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.
This abnormality may be seen in von Willibrand disease type 1, type 2A, type 2B, and type 3.
Impaired von Willibrand factor collagen binding activity
Deviation from the normal von Willebrand factor multimer pattern.
Abnormal von Willebrand factor multimer distribution
Absence of large von Willebrand Factor multimers on gel electrophoresis.
Type 2B von Willibrand disease is characterized by lack of large von Willibrand factor multimers with an otherwise normal von Willibrand factor multimer pattern.
Absence of large von Willibrand factor multimers
Detection of abnormal ultra-large von Willebrand factor multimers.
The type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers.
Abnormal presence of ultra-large von Willebrand factor multimers
Complete absence of all von Willebrand factor multimers.
Total absence von Willebrand factor multimers
Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.
Type 2A von Willibrand disease is characterized by the absence of large and intermediate von Willebrand Factor multimers on gel electrophoresis, with preservation of an otherwise normal multimer pattern.
Absence of intermediate von Willibrand factor multimers
Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.
This abnormality is characteristic of type 2B von Willibrand disease.
Enhanced ristocetin cofactor assay activity
Bleeding that persists for a longer than usual time following circumcision.
Prolonged bleeding following circumcision
An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.
Excessive bleeding from superficial cuts
An abnormal high amount of bleeding following the procedure of taking a blood sample.
Recurrent or excessive bleeding from the mouth.
An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair and that does not.
An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.
Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.
This feature reflects lack of intestinal activity.
A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.
Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.
An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.
Heart murmurs can be appreciated by auscultation of the heart by stethoscope. Murmurs can be further categorized by intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc).
Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.
Cardiogenic shock can result from a number of different of cardiac insults, the most common of which is acute myocardial infarction.
An abnormally increased number of plasma cells in tissues, exudates, or blood
A plasma cells (also known as plasma B cell, plasmocyte, or effector B cell), is a short-lived antibody-producing cell derived from a B lymphocyte.
Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Cholangitis is characterized by biliary epithelial damage with inflammatory cell infiltration. Some cholangitis is also associated with ductal and periductal fibrosis.
Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.
Clinical presentation of a ruptured gallbladder can range from an acute generalised peritonitis to benign non-specific abdominal symptom. Gallbladder perforation is a rare but life-threatening complication of acute cholecystitis, with a reported mortality rate of 12 to 42 percent. The bile leak from a ruptured gallbladder might be contained in the extra peritoneal gallbladder fossa, and hence might not produce symptoms of peritonitis immediately.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.
The presence of free monoclonal immunoglobulin light chains in the urine.
Bence Jones proteins are produced by neoplastic plasma cells and can be found in the context of multiple myeloma or Waldenstrom's macroglobulinemia.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.
The flank is the area on the side of the abdomen between the ribs and the hip.
Eversion of the endocervix with protrusion of the central (endocervical) columnar epithelium through the external os of the cervis into the vaginal milieu.
Abnormal growth of tissue projecting from a mucous membrane of the endocervix.
Cervicitis, which most commonly presents as vaginal discharge or postcoital bleeding, can be acute or chronic, with an infectious or noninfectious etiology.
Glomerulomegaly is a histologic finding that can be present in idiopathic pulmonary hypertension, congenital cyanotic heart disease, morbid obesity associated with sleep apnea syndrome, sickle cell disease, and polycythemic states.
Pain in the jaw or ear induced by chewing or otherwise moving the jaw.
The presence of an increased number of twists and turns of the temporal artery.
Occurence of excessive sweating during sleep.
Nighttime sweating is a symptom linked to menopause, malignancies, autoimmune diseases, and infections.
The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.
Increase in diameter of the veins located underneath the skin of the abdomen.
Dilatation of the superficial abdominal veins
There are two major causes of dilated superficial abdominal veins: (i) Liver cirrhosis and (ii) vena cava obstruction. With cirrhosis, the blood in the veins flows from umbilicus to periphery.
Extreme dilation of the submucusoal veins in the stomach.
Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.
A collection of clotted blood surrounding the kidney.
The causes of a spontaneous perirenal hematoma (SPH) include immunologic disorders, neoplasms (renal cell carcinomas and adenomas), and collagen vascular diseases, but the main cause of a secondary perirenal hematoma is traumatic injury.
Congenital absence of the myelin sheath on a nerve.
Increased amount of peripheral myelination.
Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.
The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).
Several mechanisms that may lead to the formation of a tomaculum-for example, hypermyelination, redundant loop formation, the presence of a second mesaxon, transnodal myelination, two Schwann cells forming one myelin sheath, and disruption of the myelin sheath. Sural nerve biopsies typically show regions of myelin thickening as well as features of demyelination and remyelination.
Loss of myelin from peripheral nerves in a pattern that differs between right and left.
This feature may be observed in hereditary neuropathy with liability to pressure palsies, but also in acquired inflammatory neuropathies.
An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.
Abnormality of peripheral nervous system electrophysiology
Abnormality of central nervous system electrophysiology
An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.
Abnormal peripheral action potential amplitude
Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).
This reflex can indicate affection of the corticospinal (pyramidal) tracts.
Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).
Gordon's reflex indicates a lesion of the pyramidal tract.
Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.
The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).
Visually enhanced vestibulo-ocular reflex impairment
Impaired visually enhanced vestibulo-ocular reflex
An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
Tremor classified by the affected body part.
Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affetc the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.
An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.
Abnormal peripheral nervous system synaptic transmission
A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Fatigable weakness of swallowing muscles
A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Fatigable weakness of respiratory muscles
A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Fatigable weakness of distal limb muscles
A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Fatiguable weakness of proximal limb muscles
Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.
Response to drugs acting on neuromuscular transmission
Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
An acetylcholinesterase inhibitor inhibits acetylcholinesterase from breaking down acetylcholine, thereby increasing both the level and duration of action of the neurotransmitter acetylcholine. For instance, edrophonium is a readily reversible acetylcholinesterase inhibitor that can be used to differentiate myasthenia gravis from cholinergic crisis. Edrophonium would improve muscle weakness in myasthenia gravis but not in cholinergic crisis.
Favorable response of weakness to acetylcholine esterase inhibitors
Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).
Increased jitter at single fibre electromyography
Increased jitter values are not pathogonomic for myasthenia, but indicate disturbed neuromuscular transmission.
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.
This feature may be observed with Lambert-Eaton Myasthenic Ssyndrome.
EMG: incremental response of compound muscle action potential to repetitive nerve stimulation
Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.
The presence of autoantibodies (immunoglobulins) in the serum that react against the acetylcholine receptor.
Acetylcholine receptor antibody positivity
The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.
This abnormality can be observed in patients with Lambert-Eaton syndrome and other paraneoplastic syndromes.
The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).
Muscle specific kinase antibody positivity
Reduced velocity and acceleration in the pupillary light response.
Excessive or pathological tendency to save and collect possessions.
Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.
Pathological persistent sexual disinhibiting behavior, directed at oneself or to others.
Uncontrolled episodes of crying, without apparent motivating stimuli.
Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).
Difficulty in performing the correct execution of limbs movements in absence of motor impairment.
Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.
A progressive loss of the ability to remember the meaning of words, faces and objects.
Behavior that is not in line with social norms.
Difficulty in recognizing objects by visual input in absence of sensorial visual impairment.
Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact.
A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-KDa protein.
Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.
Muscle fiber desmin-reactive inclusion bodies
A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein.
Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.
A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.
Abnormal muscle fiber valosin-containing protein
Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.
Accumulation of muscle fiber valosin-containing protein
The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.
An increased amount of glycogen in muscle tissue found specifically in lysosomes.
Glycogen accumulation in muscle fiber lysosomes
Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.
Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.
An increased CPK level between 4X and 50X above the upper normal level.
An increased creatine kinase level more than 50X above the upper normal level.
Extremely elevated creatine phosphokinase
Extremely elevated phospho-CK serum level
Abnormalities of the overall muscle bulk based on clinical observation.
Reduced strength of the musculature of the hand.
Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.
Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the sup-erior and inferior mesenteric veins.
Portal vein thrombosis (PVT) can occur within the main portal vein, or it can occur in the branches of the portal vein within the liver itself. It can be an occluding thrombus or nonoccluding, with a clot present but continued blood flow through the vessel. The sequela of a long-standing PVT is cavernous formation of the portal vein, which represents bridging collaterals around the occlusion.
An obstruction in the veins of the liver caused by a blood clot (thrombosis).
The occurence of an elevated body temperature of the mother during pregnancy.
There is evidence to suugest that maternal fever during pregnancy may negatively affect offspring healthneural tube defects, congenital heart defects, and oral clefts, in which meta-analyses suggested between a 1.5- and nearly 3-fold increased risk with fever exposure in the first trimester.
The occurence of maternal fever during labor.
Intrapartum fever may indicate chorioamnionitis. Intrapartum fever is an important predictor of neonatal morbidity and infection-related mortality.
The occurence of fever in a mother during the first trimester of pregnancy.
The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).
A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).
Mesenteric venous thrombosis may be associated with abdominal pain and bloating, diarrhea, fever, gastrointestinal bleeding, and vomiting.
A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.
The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.
Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.
Complete lack of mature B cells, that is, of B cells that have left the bone marrow.
A reduced ability of a T cell population to expand by cell division following T cell activation.
Small areas of bleeding (hemorrhage) under the fingernail or toenail.
The presence of multiple polyps in the large intestine.
The presence of multiple polyps in the small intestine.
One or more brown punctate macules on the skin of the genitalia.
This should be differentiated from Hyperpigmented genitalia in which an area larger than a freckle or the complete external genitalia are hyperpigmented. The description should be qualified by a description of the affected part(s).
Localized or generalized increased genital pigmentation.
This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hyperpigmentation can affect other parts of the body or be restricted to the genitalia. Genital hyperpigmentation can be generalized or localized. Localized areas of hyperpigmentation of the glans of the penis are especially common. This should be differentiated from Freckled genitalia in which one or more small, focal areas of hyperpigmentation are present. Localized hyperpigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hyperpigmentation may be more difficult to determine and is therefore a subjective manifestation. If the finding is localized, the description should be appended with a description of the affected part(s).
Localized or generalized decreased genital pigmentation.
This is an assessment of the relative pigmentation of the genitalia compared to the overall pigmentation of the individual. Hypopigmentation can affect other parts of the body or be restricted to the genitalia. Genital hypopigmentation can be generalized or localized. Localized hypopigmentation can be objectively determined due to the difference from the immediate surrounding tissue color, while generalized hypopigmentation may be more difficult to determine and is therefore a subjective manifestation.
Length of penis more than 2 SD below the mean for age accompanied by hypospadias.
Traditionally a distinction is made between a Short penis, a short penis with otherwise normal anatomy, versus microphallus, a short penis with hypospadias. Penile length is the distance between the midline attachment of the gently stretched, flaccid penis above the pubic symphysis and tip of the glans. A short penis should be differentiated from an inconspicuous penis, for instance due to excessive suprapubic fat ("buried"). We also recognize that shortness of a penis is defined by some subspecialists as penile length more than 2.5 SD below the mean.
Absence of the penis is always accompanied by abnormal position of the meatus (usually in the perineum, sometimes in the rectum), may be accompanied by Cryptorchidism, and is often associated with non-genital anomalies, which all should be coded separately. Absent penis should be differentiated from a penis concealed within pre-pubic fat tissue.
Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.
Penile width is the distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis.
Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.
Penile torsion is defined traditionally as being between 30 and 180 degrees rotation. Penile torsion is usually counter clockwise and is often associated with Chordee and Hypospadias, which should be coded separately.
Ventral skinfold extending from penis to scrotum.
The distal limit of the skinfold can be located on the penile shaft or the tip of the penis.
Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.
Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.
Calcification of the interosseus membrane of the forearm
Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.
An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Increased serum insulin-like growth factor 1
Growth hormone and IGF-I are important regulators of bone homeostasis throughout life. During the prepubertal period, GH and IGF-I are determinants of longitudinal bone growth, skeletal maturation, and acquisition of bone mass, whereas in adults they are important in the maintenance of bone mass.
Increase in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.
Elevated red cell adenosine deaminase activity
2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes.
Reduced erythrocyte 2,3-diphosphoglycerate concentration
An altered ability of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered levels of an enzyme.
Decrease in the activity of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.
Reduced red cell adenosine deaminase activity
Additional scrotum, or part of a scrotum in an abnormal location.
An accessory scrotum is typically located on the perineum, frequently associated with perineal lipoma, and occasionally with Hypospadias or Bifid penis, which should be coded separately.
Scrotum in a position other than the usual position inferior to the base of the penis.
This term is distinguished from Accessory scrotum, as there is no significant scrotal tissue in the normal position in ectopic scrotum. This definition excludes the finding of Penoscrotal transposition or Overriding scrotum. Usually the scrotum is split and there is unilateral ectopia. The ectopic scrotum is typically located supra-inguinally, but may be located elsewhere such as on the upper thigh. A testis is commonly present in the ectopic scrotum. Ectopic scrotum can be accompanied by Chordee or Bifid penis, which should be coded separately, and by renal and non-urogenital malformations.
A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum.
Abnormal morphology of a vertebral pedical.
The pedicle is part of the lumbar vertebrae - each lumbar vertebra consists of a vertebral body and a vertebral arch. The vertebral arch, consisting of a pair of pedicles and a pair of laminae, encloses the vertebral foramen.
Underdeveloped pedicle of the fifth lumbar vertebra.
Radiolucent focal defect of a rib shaft.
A rib gap can be congenital or acquired. If congenital this feature is nearly pathgnomonic for Cerebrocostomandibular syndrome (MIM:117650). Acquired rib gaps can be seen after surgical procedures or with fractures or infections.
Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.
Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.
Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.
Partial absence of the septum pellucidum
A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.
Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.
Atrophy of the superior cerebellar peduncle.
An abnormal flattening of an epiphysis of femur.
Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.
Irregularity of the normally smooth surface of a metaphysis of a tibia.
Irregularity of the normally smooth surface of a metaphysis of a fibula.
Irregularity of wide portion of calf bone
An anomaly of the metaphysis of the distal femur (close to the knee).
Abnormality of wide portion of outermost thighbone
Presence of only 10 (instead of the usual 12) pairs of ribs.
An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.
The human brain commissures comprise the corpus callosum, the anterior commissure, the fornix, and the posterior commissure.
Underdevelopment of the anterior commissure.
A deviation from the normal number of vertebrae in the spinal column.
The presence of 11 instead of the normal 12 thoracic vertebrae.
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.
The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.
Flared outermost metaphysis of shankbone
The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.
Flared outermost wide portion of of calf bone
Displacement or malalignment of one or more joints in the upper extremity (arm).
Displacement or malalignment of one or more joints in the lower extremity (leg).
Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).
An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.
A type of inflammation of the lips involving one or both of the corners of the mouth.
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.
An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.
Underdevelopment of the vertebral artery.
Underdevelopment of the vertebral artery on one side.
Underdevelopment of the vertebral artery on both sides.
Fissure within the spinal cord of the neck.
An anomaly in the number of macrophages.
An anomaly in the number of osteoclasts, bone-resorbing cells that develop from macrophages.
Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).
The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.
Multinucleated giant chondrocytes in epiphyseal cartilage
A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).
Impaired stimulus-induced skin wrinkling
A structuraly anomaly of T cells that express an alpha-beta T cell receptor.
Normally, most T cells express a T cell receptor (TCR) that consists of an alpha and a beta chain. A smaller subset of T cells express a TCR consisting of gamma and delta chains,
A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology
A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count
Absence of CD4-positive, CD25-positive regulatory T cells
An increased number of CD4-positive, CD25-positive regulatory T cells.
Elevated CD4-positive, CD25-positive regulatory T cell count
An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Decreased circulating gonadotropin level
obsolete Increased circulating gonadotropin level
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating follicle stimulating hormone level
A reduction in the circulating level of luteinizing hormone (LH).
Decreased circulating luteinising hormone level
Decreased circulating luteinizing hormone level
An anomaly of the circulating level of luteinizing hormone (LH).
Abnormal circulating luteinizing hormone level
An anomaly of the circulating level of follicle-stimulating hormone (FSH).
Abnormal circulating follicle-stimulating hormone level
An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.
A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.
A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.
An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Abnormal serum insulin-like growth factor 1 level
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Decreased serum insulin-like growth factor 1
Abnormal levels of interferon in the blood.
Abnormal levels of interferon gamma measured in the blood circulation.
An elevation in the concentration of interferon gamma measured in the blood circulation.
Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.
A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.
Four subtypes of squamous cell lung carcinoma exist: (i) papillary; (ii) clear cell; (iii) small cell (distinct from small cell lung cancer); and (iv) basaloid.
A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.
Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).
The icosanoids include the prostaglandins, prostacyclins, thromboxanes, leukotrienes, and epoxyeicosatrienoic acids. Icosanoids have various roles in processes that regulate inflammation, fever, blood pressure, blood clotting, immune system function, reproductive processes and tissue growth, and the sleep/wake cycle.
Abnormal circulating eicosanoid concentration
A reduction in the level of carnitine in muscle tissue.
Carnitine deficiency may be observed in a systemic form or be limited to skeletal muscle tissue. Carnitine levels can be measured by assays of muscle tissue (biopsy). Alternatively, 1H-NMR spectroscopy can be used for qualitative measurement of muscle carnitine levels.
Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.
Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.
Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.
The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.
Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.
An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.
Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.
A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.
A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
Memory B cells can be defined as CD19+/CD27+ or CD20+/CD27+ cells in flow cytometry.
A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).
A deviation from normal proportion immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
Abnormal proportion of CD19+/CD21low B cells
An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
Increased proportion of CD19+/CD21low B cells
Increased proportion of immature B cells
A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).
Decreased proportion of CD19+/CD21low B cells
Decreased proportion of immature B cells
A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
Abnormal proportion of CD19+CD38+IgM+ cells
Abnormal proportion of transitional B cells
A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
Decreased proportion of CD19+CD38+IgM+ cells
Decreased proportion of transitional B cells
An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.
Increased proportion of CD19+CD38+IgM+ cells
Increased proportion of transitional B cells
A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
Abnormal proportion of marginal zone B cells
A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
Decreased proportion of marginal zone B cells
An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.
Increased proportion of marginal zone B cells
A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Abnormal proportion of CD19+CD27+IgD- cells
Abnormal proportion of class-switched memory B cells
An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Increased proportion of CD19+CD27+IgD- cells
Increased proportion of class-switched memory B cells
A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.
Decreased proportion of CD19+CD27+IgD- cells
Decreased proportion of class-switched memory B cells
Any deivation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.
Abnormal circulating thromboxane concentration
An abnormally decreased concentration of leukotriene C4 in the blood circulation.
Cysteinyl leukotrienes including LTC4 are potent lipid mediators derived from arachidonic acid in the 5 lipoxygenase pathway.
Reduced circulating leukotriene C4 concentration
Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.
Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.
A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).
Low-grade adenocarcinoma of endolymphatic sac origin
Endolymphatic sac tumors (ELSTs) may arise sporadically or in von Hippel-Lindau (VHL) disease. The symptoms (hearing loss with or without tinnitus, vertigo, impairment of cranial nerve function) and the physical and neuro-otologic examination and imaging findings (computed tomography, magnetic resonance imaging) are not specific for tumors of the cerebellopontine angle (CPA). The final diagnosis can often only be reached through histopathological and immunohistochemical evaluation of the tumor specimen. The differential diagnosis in tumors of the CPA includes paraganglioma, chondroid tumor, atypical schwannoma, meningioma, and also rare entities such as aneurysm, hemangioblastoma, craniopharyngioma, and choroid plexus papilloma.
Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.
Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.
Abnormal release of dense granules from platelets.
Dense granules contain adenosine diphosphate, adenosine triphosphate, ionized calcium, histamine and serotonin.
Abnormal platelet dense granule secretion
Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).
Abnormal platelet ATP dense granule secretion
Abnormal release of alpha granule contents from platelets.
Abnormal platelet alpha granule secretion
Abnormal release of lysosome contents from platelets.
Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.
Abnormal platelet dense granule ATP/ADP ratio
An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.
Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.
An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.
The excessive glucagon secreted by a glucagonoma may lead to dermatitis (migratory necrolytic erythema), glucose intolerance, weight loss, anemia, diarrhea, and thromboembolism.
A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.
A type of cancer that originates in the peritoneam. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.
A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumour (WHO grade I).
Pineoblastoma is a rare primitive neuroectodermal tumour (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumour and comprise one-fourth to one-half of pineal parenchymal tumours. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.
Pineoblastomas are rare, malignant, pineal region lesions that account for <0.1% of all intracranial tumors. Pineoblastomas harbor a poor prognosis and can metastasize along the neuroaxis. Although they typically appear radiographically as a focal enhancing mass, pineoblastomas can be locally invasive and spread outside the pineal region through the subarachnoid space. Pineoblastomas are more common in children than in adults, and adults account for <10% of patients.
A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.
A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance.
A malignant epithelial tumor with a glandular organization that originates in the jejunum.
A malignant epithelial tumor with a glandular organization that originates in the ileum.
A carcinoma derived from a squamous epithelial cell of the tongue.
Squamous cell carcinoma of the tongue is often painless and may present as a non-healing ulcer that demonstrates growth over time.
A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.
Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.
A tumor (abnormal growth of tissue) of the female external genital tract (vulva).
A cancer that originates in the sqamous cells that line the surface of the vulva.
A type of vulvar cancer that originates from melanocytes of the vulva.
The first symptoms typically noticed by the patients are bleeding, pruritus, or a mass in the groin. Vulvar melanomas are mostly located at the labia minora.
A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.
Carcinomas of Bartholin's gland are rare tumors that account for less than 1% of all gynecological malignancies. Two major histological types, squamous cell carcinoma and adenocarcinoma, account for 80% to 90% of primary cases. The remainder are adenoid-cystic, transitional, or undifferentiated carcinomas.
A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.
obsolete Papillary cystadenoma of the epididymis
A smooth, extratesticular, spherical cyst in the head of the epididymis.
Diagnosis of epididymal cyst can be confirmed by scrotal ultrasound. Patients can present with scrotal mass or pain. Epididymal cysts are usually between 3-30 mm in diameter. In some cases they can resolve spontaneously.
A cyst of the ovary that exhibits deposition of calcium salts.
A benign central bone tumor composed of fibrous connective tissue within which bone is formed.
A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.
Cutaneous myxomas are sharply demarcated nodules of the dermis or subcutis that may occur as solitary lesions or in association with Carney complex. Microscopically, cutaneous myxomas in the Carney complex have sharp circumscription, hypocellularity, abundant myxoid stroma, prominent capillaries and an occasional epithelial component.
A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.
A tumor made up of nerve cells and nerve fibers.
A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.
Chondroblastomas of bone are rare benign bone tumours, arising at the cartilaginous growth plate, representing approximately 1-2% of all bone tumors. The most common sites are the proximal humerus and the proximal tibia, but the third most common site is the proximal femur. Histologically, the tumour consists predominantly of well-defined polygonal chondroblast-type cells similar to epiphyseal chondrocytes, with large nucleoli and benign-looking nuclei that have a tendency to be multilobulate and have a continuous dense band of substance along the inner nuclear membrane, intra-cytoplasmic inclusions of glycogen and lipids, numerous mitochondria and superficial secretion vesicles arising from a well developed rough endoplasmic reticulum. There are multi-nucleated giant cells, foci of chondroid matrix, with focal calcification that may acquire a "chicken wire" appearance. Aneurysmal bone cysts are associated with chondroblastoma in 14% of cases.
A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.
Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.
Pilomatricomas usually are asymptomatic (pain appears only with associated inflammation and ulceration); deeply seated, firm, nontender subcutaneous masses adherent to the skin but not fixed to the underlying tissue. Stretching of the skin over the tumor shows the "tent sign" with multiple facets and angles, a pathognomonic sign for pilomatricoma. In addition, pressing on one edge of the lesion causes the opposite edge to protrude from the skin like a "teeter-totter". Both these "tent sign" and "teeter-totter sign" are the most helpful clinical clues to the diagnosis of pilomatricoma.
Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.
A squamous cell carcinoma that originates in the anal canal.
Patients typically present with bright red bleeding, pain, and/or a palpable mass. When a clinically suspicious lesion is identified, diagnosis relies on cytologic or histologic confirmation.
An adenoma carcinoma that originates in the anal canal.
Differentiating true anal canal adenocarcinoma from low rectal adenocarcinoma can be challenging. Most anal canal adenocarcinomas originate from anal glands, but cases developing in chronic tracts from fistula in ano are described. Multiple factors, including infection with HPV and HIV, history of receptive anal intercourse, smoking, and immunosuppression have been identified as risk factors. Clinical features include anal pain, induration of the anal canal, or abscess formation and a palpable lump.
The anal canal is defined as the caudal part of the large intestine extending from the anorectal ring to the anal verge and is about 3 to 5 cm in length. Outside of the anal verge lies the anal margin, also referred to as the perianal skin, which commonly encompasses a radius of 5 cm. The anal verge can be identified visually as the part of the anal canal remaining closed when the buttocks are gently retracted. The upper anal canal is lined by columnar tissue that transitions into squamous epithelium at the dentate line. The dentate line, identified by the termination of the anal columns, lies 1 to 2 cm above the anal verge.
An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.
Macroscopically, anal margin Paget's disease presents as an erythematous and eczematous rash similar to benign skin conditions or other perianal diseases such as Bowen's disease, hydradenitis suppurativa, pruritus ani, or Crohn's disease.
A squamous cell carcinoma that originates in the skin of the anal margin.
Clinical presentations include pain, bleeding, palpable lump, and discharge. Typically, SCC of the anal margin appears as an ulcerated lesion with rolled everted edges. A significant number of patients are misdiagnosed with an anal fissure, fistula, eczema, or hemorrhoids; therefore a biopsy is recommended for any persistent anal margin lesion not responding to conservative therapy.
A basal cell carcinoma that originates in the anal margin.
A melanoma that originates in the anal margin.
A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.
A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.
Primary small cell carcinoma of the skin
Primary undifferentiated carcinoma of the skin
A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.
Soft tissue sarcomas can be found in any part of the body but most often originate in the arms or legs. They can also be found in the trunk, head and neck area, internal organs, and in the retroperitoneum.
Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.
A tumor that arises from an element of the autonomic nervous system.
Neuroplasm of the autonomic nervous system
A closed fluid filled sac originating from the mesentary.
A mesenteric cyst is defined as any cyst located in the mesentery; it may or may not extend into the retroperitoneum, which has a recognizable lining of endothelium or mesothelial cell. Mesenteric cyst can occur anywhere in the mesentery of gastrointestinal tract from duodenum to rectum. Mesenteric cysts can be simple or multiple, unilocular or multilocular, and they may contain hemorrhagic, serous, chylous, or infected fluid. They can range in size from a few millimetres to few cm in diameter, however, at times may be so large that it may mimic tubercular ascites.
A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.
The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.
Abnormality of pattern visual evoked potentials
Abnormality of pattern onset/offset visual evoked potentials
Abnormal amplitude of pattern onset/offset VEP
Abnormal amplitude of pattern onset/offset visual evoked potentials
Abnormal timing of pattern onset/offset visual evoked potentials
Abnormal timing of pattern reversal visual evoked potentials
Abnormal timing of flash visual evoked potentials
Abnormal amplitude of flash visual evoked potentials
Crossed asymmetry of flash visual evoked potentials
Asymmetrical distribution of flash visual evoked potentials
Crossed asymmetry of pattern reversal visual evoked potentials
Asymmetrical distribution of pattern reversal visual evoked potentials
No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.
Undetectable light-adapted electroretinogram
An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.
Abnormal dark-adapted bright flash electroretinogram
Abnormal dark-adapted dim flash electroretinogram
Abnormal light-adapted single flash electroretinogram
Abnormal light-adapted 30Hz flicker electroretinogram
Abnormal light-adapted flicker electroretinogram
Undetectable dark-adapted electroretinogram
Abnormal timing of dark-adapted dim flash electroretinogram
Abnormal amplitude of dark-adapted dim flash electroretinogram
Abnormal timing of dark-adapted bright flash electroretinogram
Abnormal amplitude of dark-adapted bright flash electroretinogram
Abnormal amplitude of light-adapted flicker electroretinogram
Abnormal timing of light-adapted flicker electroretinogram
Abnormal amplitude of light-adapted single flash electroretinogram
Abnormal timing of light-adapted single flash electroretinogram
An abnormal reduction in the amplitude of the a-wave.
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
Supernormal dark-adapted bright flash electroretinogram b-wave
Abnormal amplitude of pattern electroretinogram
Abnormal timing of pattern electroretinogram
Abnormal P50/N95 ratio of pattern electroretinogram
Abnormal central response of multifocal electroretinogram
Abnormal paracentral response of multifocal electroretinogram
Atrophy of the capillary lamina of choroid.
An anomaly of the pigmentation in the fovea centralis.
Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).
Any structural anomaly of the blood vessels of the macula.
Abnormality morphology of the macular vasculature
Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.
Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.
Cotton-wool spots (CWSs) are common retinal manifestations of many diseases including diabetes mellitus, systemic hypertension, and acquired immunodeficiency syndrome.
Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.
Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.
Splitting of the neuroretinal layers of the retina.
Bear track congenital hypertrophy of retinal pigment epithelium
Grouped congenital hypertrophy of retinal pigment epithelium
Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.
Crystalline deposits in the retina may be associated with a wide variety of systemic disorders such as oxalosis, cystinosis, hyperornithinaemia and Sjogren-Larsson syndrome. Refractile crystalline deposits may also be a manifestation of drug toxicity like the antineoplastic agent tamoxifen, the anesthetic methoxyflurane and the oral tanning agent canthaxanthine. Crystals may also occur in drug abusers who inject multiple crushed tablets of methadone or meperidine intravenously (talc retinopathy).
Combined hamartoma of the retinal pigment epithelium and retina
Difficulty adjusting to changes in luminance
Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation).
A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.
Mild constriction of peripheral visual field
obsolete Peripheral visual field constriction with 40-50 degrees central field preserved
obsolete Peripheral visual field constriction with 30-39 degrees central field preserved
Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.
Moderate constriction of peripheral visual field
Peripheral visual field constriction with 10-19 degrees central field preserved.
Severe constriction of peripheral visual field
Peripheral visual field constriction with <10 degrees central field preserved.
Very severe peripheral visual field loss
Very severe constriction of peripheral visual field
Abnormal best corrected visual acuity test
Visual acuity light perception with projection
Visual acuity light perception without projection
Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.
Abnormal confrontational visual field test
Abnormal automated kinetic perimetry test
Abnormal static automated perimetry test
Abnormal Humphrey SITA 30-2 perimetry test
Abnormal Humphrey SITA 24-2 perimetry test
Abnormal Humphrey SITA 10-2 perimetry test
Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.
Fundus autofluorescence imagine is used for evaluating age related macular degeneration, macular dystrophies, retinitis pigmentosa, white dot syndromes, retinal drug toxicities, and various other retinal disorders.
Abnormal fundus autofluorescence imaging
An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.
Increased OCT-measured macular thickness
Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.
Photoreceptor outer segment loss on macular OCT
Retinal pigment epithelial loss on macular OCT
Abnormal retinal morphology on macular OCT
Abnormal foveal morphology on macular OCT
Foveal photoreceptor layer loss on macular OCT
Foveal photoreceptor outer segment loss on macular OCT
Foveal retinal pigment epithelial loss on macular OCT
Foveal inner retinal layer loss on macular OCT
Intraretinal hyporeflective spaces on macular OCT
Subretinal hyporeflective spaces on macular OCT
Foveal intraretinal hyporeflective spaces on macular OCT
Foveal hyporeflective spaces on macular OCT
Foveal subretinal hyporeflective spaces on macular OCT
Perifoveal ring of hyperautofluorescence
Irregular central macular autofluorescence
Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
A large portion of hyper-autofluorescent lesions results from alterations in lipofuscin metabolism. Accumulation of lipofuscin in RPE cells, accumulation of bisretinoids in photoreceptor outer segments, and photooxidation of bisretinoids in lipofuscin can all contribute to enhanced autofluorescence.
Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.
Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
Retinal dystrophy with early macular involvement
Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electoretinogram (ERG), or fluorescein angiogram abnormalities.
Retinal phenotype characterised by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, colour vision abnormalities, nystagmus and photophobia.
Congenital stationary night blindness with normal fundus
Congenital stationary night blindness with abnormal fundus
Complete congenital stationary night blindness
Incomplete congenital stationary night blindness
Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.
Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.
Any cystic lesion associated with the umbilical cord.
Umbilical cord cysts can be single or multiple. Most usually, a solitary umbilical cyst is observed. They can be classified as (i) true cysts if they have an epithelial lining (allentoic cyst or omphalomesenteric duct cyst) or false cysts if they do not have an epithelial lining (umbilical cord pseudocyst).
An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.
When the true knot remains tight, it may impede the circulation of the fetus and may result to fetal death in utero especially in labor.
Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.
Insertion of the umbilical cord within 2 cm from the placental edge.
Marginal cord insertion has an ncidence of about 7 percent of births. It is associated with intrauterine growth retardation, preterm labor and development of velamentous cord insertion.
Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.
Velamentous cord insertion and an incidence of 1.1 percent of singleton births, and 8.7 to 16 percent of twin births.
Branching of the umbilical cord before its insertion into the placenta.
Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.
Vitreous snowballs can be observed in intermediate uveitis.
The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.
Normally, there are no leukocytes in the vitreous as this is an immune-privileged site. If the blood-retinal barrier is disrupted, then leukocytes gain access to the vitreous. Vitreous inflammatory cells can be measured by flow cytometry of vitreous fluid.
Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.
Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus.
Beevor's sign is said to be characteristic of a spinal cord lesion at the T10 level, but is also described inter alia in amyotrophic lateral sclerosis and in facioscapulohumeral muscular dystrophy.
Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.
Rubral tremor can be observed with midbrain injury and probably results from combined lesions of the superior cerebellar peduncle, substantia nigra, and red nucleus with interruption of the outflow pathway from the cerebellum to the motor thalamus. This tremor is present at rest but tends to be slower (3 to 5 Hz) than typical Parkinson tremor (5 to 7 Hz). It also persists unchanged or even increases with postural changes or goal-directed activity.
In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.
When traction retinal detachment involves the macula, which is responsible for reading and driving vision, severe visual loss occurs.
A type of retinal neovascularization that affects the periphery of the retina.
A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.
A periorbital dermoid cyst may present as a subcutaneous mass at the lateral aspect of an eyelid.
A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.
Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.
Abnormality of the common tendinous ring
Abnormal common tendinous ring morphology
The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.
Asteroid hyalosis is a degenerative process.
A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.
Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.
Contracture of proximal interphalangeal joints of 2nd-5th fingers
Sharp pointed superior portion of the ear, with variable overfolding of the helix.
The satyr ear appears to have an abnormally small upper-lateral portion. More extensive underdevelopment continuing down to and including the lobe produces a more extreme anomaly that, unfortunately, has been called Devil ear.
A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.
A hypopigmented spot in the shape of a leaf from the mountain ash tree.
Wood's light is a blue light with an emission peak of 360 nm. The blue end of visible light is absorbed by epidermal pigmentation. If there is no epidermal pigmentation in a site, the area will appear nonpigmented as compared with the surrounding skin. Minimally visible hypopigmented spots are more easily visualized with the Wood's lamp. Ash-leaf spots are only one variety of hypopigmented macules present on the skin of patients who have tuberous sclerosis.
Any structural anomaly of the heart and great vessels.
Abnormality of cardiovascular system morphology
Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
Abnormal morphology of myocardial trabeculae
Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.
Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.
The most common infectious causes of vaginitis are bacterial vaginosis, vulvovaginal candidiasis, and trichomoniasis. Physicians traditionally diagnose vaginitis using the combination of symptoms, physical examination, pH of vaginal fluid, microscopy, and the whiff test.
A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.
Lower circulating adiponectin levels is associated with obesity and negatively correlated with insulin resistance. Adiponectin may exert antidiabetic, anti-atherogenic and anti-inflammatory activities in metabolic diseases.
A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.
A deviation from the normal concentration of glucagon in the blood circulation.
Glucagon is a 29-amino acid polypeptide that is manufactured by the alpha cells of the pancreatic islets. It plays a key role in glucose counterregulation in response to hypoglycemia. Hypoglycemia is normally a powerful stimulator of glucagon secretion.
An elevated concentration of glucagon in the blood circulation.
A reduced concentration of glucagon in the blood circulation.
A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.
A condition in which both eyes beat outward simultaneously.
This is a rare condition that may be related to posterior foass abnormalities and can occur with spinocerebellar degeneration.
A benign or malignant neoplasm that arises from or metastasizes to the brain.
A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.
This represents a group of related tumours ranging from the relatively benign to the highly malignant.
A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.
The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.
Myeloschisis is a cleft spinal cord arising from a failure of neural tube closure. The placode is defined as a plate of embryonic epithelial cells constituting a primordial cell group from which the spinal cord arises and is often seen in a myelomeningocele. In a myelomeningocele, an exposed placode is often a myeloschisis. In other words, a myeloschisis is a collapsed myelomeningocele. When the placode in the myelomeningocele sac is a cleft spinal cord, this anomaly is classified as myeloschisis rather than myelomeningocele.
Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.
Localized dilatation of the central canal of the spinal cord which produces a fluid-filled sac or diverticulum which then protrudes through the cord and the defective dorsal dura between the posterior parts of the vertebra.
A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.
Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.
This term is distinct from Hydrometrocolpos (HP:0030010), which indicates additional uterine dilation.
Adhesions or scar tissue that form inside the cavity of the uterus.
Asherman syndrome is a condition characterized by formation of intrauterine adhesions and results from injury to the endometrium. Asherman syndrome is often associated with infertility.
Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation.
Median prosencephalic arteriovenous fistula
A large maternal clot that separates the chorionic plate from the villous chorion.
A developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.
Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.
Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.
This feature can be appreciated on chext radiography, MRI, or CT.
A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.
Cyst on the surface of the placenta consisting of amnion and chorion.
Phocomelia involving all four extremities.
Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.
Ectopic liver tissue can occur in several different organs, but the gallbladder is the commonest site of origin.
Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.
A fluid-filled sac (cyst) located within the central nervous system.
Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes.
The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.
Individuals diagnosed with neurenteric cysts most frequently present in the second and third decades of life with a male-to-female ratio of approximately 2:1. Moreover, in the pediatric population, 61.2 percent of patients found to have neurenteric cysts are male with a mean age of 6.4 years at presentation. The majority of adult patients with neurenteric cysts present with progressive focal pain at the level of spinal axis pathology, fluctuating myelopathic signs, or radicular symptoms.
A neurenteric cyst located in the spine.
A neurenteric cyst located within the skull.
Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.
A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.
A herniation of meninges through a congenital bone defect in the skull in the parietal region.
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
A congenital malformation of the tricuspid valve characterized by leaflet deformation.
Malformations of the tricuspid valve include a wide range of morphologic features that can be divided into two main groups: those in which the primary lesion is downward displacement of the basal attachment of the mural and septal (or both) leaflets, known as Ebstein's malformation (1), and those without downward displacement but with deformation of the leaflets and the tension apparatus, an arrangement described as dysplasia. In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae.
An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.
Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.
A teratoma arising in the sacro-coccygeal region.
Sacrococcygeal teratomas arise from totipotent cells from the node of Hensen at the anterior aspect of the coccyx by about the 2nd to 3rd weeks of gestation, and are composed of the all three germ cells (i.e. ectoderm, mesoderm and endoderm). Sacrococcygeal teratomas are classified according to their relative extent outside and inside the body. Altman type I: entirely outside, sometimes attached to the body only by a narrow stalk; Altman type II: mostly outside; Altman type III: mostly inside; Altman type IV: entirely inside.
A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.
A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.
A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.
An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.
Right ventricular anomalous muscle bundle
The anomalous muscle bundle is triangular in shape, with its apex attached to the anterior aspect of the ventricular septum immediately above and in front of the ventricular septal defect. It crosses the right ventricular chamber to insert at the apical portion of the anterior wall of the right ventricle (PMID:708529).
Anomalous muscle bundle of the right ventricle
A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).
This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.
Persistanced of a posterior remnant of the hyaloid artery located at the optic disc.
Glial remnants anterior to the optic disc
A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.
Hyaloid vascular remnant and retrolental mass
A saccular or fusiform dilation and elongation of the ductus arteriosus.
Bleeding into the ventricles of the brain.
Intraventricular hemorrhage that occurs in a premature infant.
This is a common complication seen in preterm infacnts since the cerebral blood vessels are not yet fully developed. Infants born more than 10 weeks early are at highest risk for this type of bleeding.
Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.
Grade I preterm intraventricular hemorrhage
Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.
Grade II preterm intraventricular hemorrhage
Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.
Grade III preterm intraventricular hemorrhage
Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.
Grade IV preterm intraventricular hemorrhage
A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.
Loss of one twin occurring after midgestation (17 weeks gestation).
Loss of one twin in the first trimester does not appear to impair the development of the surviving twin. However, fetal death occurring after midgestation (17 weeks' gestation) may increase the risk of IUGR, preterm labor, preeclampsia and perinatal mortality.
Intrauterine fetal demise of one twin after midgestation
A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.
A teratoma located in the craniofacial region.
Reddish, brown opalescent discoloration of teeth in normal light.
This feature is characteristic of Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder caused by mutation in the gene that codifies uroporphyrinogen-III synthase, leading to porphyrin accumulation in many tissues.
A pocket of pus located within a region of a tooth.
A tooth abscess that occurs at the tip of the root (apex) of a tooth.
An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.
Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.
Dissolution or attenuation of mesangial matrix and degeneration of mesangial cells. In essence, mesangiolysis is an injurious process which affects the glomerular mesangium without causing obvious damage to the capillary basement membranes. The matrix swells, loosens, and eventually dissolves; the mesangial cells may show only edema and vacuolization, or may undergo severe degeneration and necrosis.
A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.
Brown or blue-gray discoloration of the skin tha can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.
Episodes of intense fear, screaming and flailing although affected individuals are still asleep.
Sleep terrors may occur in individuals who are sleepwalking.
Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).
Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.
A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.
A neural tube defect in which both the brain and spinal cord remain open to varying degrees.
Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.
Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.
An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.
The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.
An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.
An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.
An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.
Modic type II vertebral endplate changes
An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modif type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.
Modic type III vertebral endplate changes
Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.
An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.
Abnormality of the protein C anticoagulant pathway
A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.
Increased circulating free fatty acid level
An abnormal amount of any of the interleukins, a class of cytokines, in the circulation.
An increased concentration of interleukin-6 in the circulation.
An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.
A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.
Photopsia may be associated with (1) posterior vitreous detachment, (2) migraine with aura, (3) migraine aura without headache, and (4) retinal break or detachment.
Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.
Blockage of the external auditory canal by a buildup of earwax.
This feature is not necessarily associated with impacted cerumen, which if present should be coded separately.
An anomolous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.
A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.
A tumor originating in the jaw (mandible or maxilla).
Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).
An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.
A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.
An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.
C-peptide, which is composed of 31 amino acids, is released from the pancreatic beta-cells following cleavage of insulin from proinsulin. C-peptide levels are generally measured after an overnight fast.
A diminished volume of the central part of the bed nucleus of the stria terminalis.
This structure is larger in men than in females.
Reduced volume of central subdivision of bed nucleus of stria terminalis
The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.
Abnormality of the bed nucleus of stria terminalis
Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.
Dolichocephaly is a term in wide use to describe any long narrow head, with a cephalic index usually below 75%. Scaphocephaly, derived from the Greek skaphe (a light boat or skiff), describes a specific variety of a long narrow head that resembles an inverted boat with a keel. Scaphocephaly thus refers to an inverted keellike appearance to the skull, with the widest part of the skull in the temporal rather than parietal area and with palpable ridging over part or all of the sagittal suture (PMID:16156241).
An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.
A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.
Inferior malposition of the lower eyelid margin without eyelid eversion.
This is is not to be confused with ectropion (eyelid eversion). Lower eyelid retraction presents clinically with scleral show; round, sad-looking eyes; lateral canthal tendon laxity; and symptoms of ocular irritation, including photophobia, excessive tearing, and nocturnal lagophthalmos.
Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.
The most common histopathologic findings of trachyonychia are spongiosis and exocytosis of inflammatory cells in the nail epithelia1. Although idiopathic trachyonychia may be much more common than reported, it may present with various associated skin or mucosal diseases including alopecia areata, lichen planus, psoriasis, and eczema. Trachyonychia predominantly occurs in children, although it can affect people of all ages. Trachyonychia can improve spontaneously but may have a chronic course exceeding 6 years and result in cosmetic handicaps.
Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.
Nails whose growth is quicker than normal.
Nail whose growth pattern or speed deviates from normal.
The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.
Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.
A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.
A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.
The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.
Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.
Beaked nails may be observed with conditions including hyperparathyroidism, renal failure, psoriasis, and systemic sclerosis.
The presense of a depressed line ("canal") in the center of the nail.
Central nail canal may be observed with conditions including severe arterial disease, severe malnutrition, and repetitive trauma. Heller's fir tree deformity refers to a central canal with a fir tree appearanceand may occur with peripheral artery disease.
Nails that slope upward at the free edge.
Eyelid partly covered by skin when eyes are open.
Lower eyelid partly covered by skin when eyes are open.
Upper eyelid partly covered by skin when eyes are open.
Increased dimension of the sclera in the anterior-posterior axis.
Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].
Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.
Absence of the foveal reflex can occur with macular edema, central serous retinopathy, or other macular abnormalities such as macular dystrophy. The macular reflex is often less pronounced in adults than in children, and may be absent in otherwise normal eyes of older individuals.
Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.
A high-pitched whistling sound associated with labored breathing.
Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less
An anomalous (adventitious) sound produced by the breathing process.
Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.
Rales are fine, discontinuous crackles that can sound like cellophane being crumpled or velcro being pulled apart. They may be heard with a stethoscope when listening over lungs containing more than the normal amount of fluid secretiions.
Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.
Fiber- or rope-like opacities located within the vitreous humor.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.
Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.
Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
The diagnosis of amyloidosis requires histological identification of amyloid deposits. Congo Red staining renders amyloid deposits salmon pink by light microscopy, with a characteristic apple green birefringence under polarized light conditions. Additional immunohistochemical staining for precursor proteins identifies the type of amyloidosis.
Absent response to a pattern electroretinogram (PERG).
Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.
Purple eyelids, which are described as heliotrope, as they resemble the heliotrope flower, e.g., Heliotropium peruvianum, which has small purple petals. Heliotrope rash is one of the characteristic skin manifestations of juvenile dermatomyositis. It is a reddish-purple rash on the upper eyelids that is usually bilateral.
An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.
The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.
An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.
Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).
An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.
In the normal body, the internal organs are arranged in different patterns on the right and left sides, and are not mirror images of each other. Hence, if asymmetry of the thoracic and abdominal organs is the usual or normal situation, the syndrome of visceral heterotaxy includes patients with an unusual degree of symmetry of some of the thoracic and abdominal organs, and the atrial appendages within the heart.
A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
Most staphylomas occur in the posterior pole, usually due to pathological or degenerative myopia. Anterior staphylomas are less frequent. They generally occur after longstanding mistreated or untreated infections in a previously healthy eye and are commonly associated with fungal corneal ulcers. In other cases, they may follow chronic inflammatory diseases such as necrotizing scleritis.
A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.
A recurrent pattern of behavior that is characeterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to the person or to others. The repetitive engagement in these behaviors ultimately interferes with functioning in other domains.
Several behaviors, besides psychoactive substance ingestion, produce short-term reward that may engender persistent behavior despite knowledge of adverse consequences, i.e., diminished control over the behavior.
The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.
Topoisomerase (DNA) I antibody positivity
Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).
In Alzheimer disease, histopathology typically reveals extracellular accumulations of amyloid beta (Abeta) in senile plaques and intracellular neurofibrillary tangles of hyperphosphorylated tau (P-tau). A[beta]42 is the 42 amino acid isoform of amyloid beta. Using positron emission tomography several studies found an inverse correlation between brain amyloid load and CSF A[beta]42.
Reduced concentration of amyloid in the cerebrospinal fluid (CSF).
Increased concentration of amyloid in the cerebrospinal fluid (CSF).
Widening of the nostrils upon inhalation as a manifestation of respiratory distress.
Nasal flaring is a compensatory symptom that increases upper airway diameter and reduces resistance and work of breathing.
A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.
Abnormal increased size of the elbow joint.
Abnormally increased size of the knee joint.
The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.
An abnormality of XY sexual development characterized by the absence of both testes at birth.
An anomaly of the small joints located between and behind adjacent vertebrae.
The spinal facet joints represent a set of synovial, plane joints between the articular processes of each two adjacent vertebrae. Each pair of facet joints functions to guide and limit the movement of the corresponding spinal motion segment.
Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.
Facet joint osteoarthritis (FJ OA) is intimately linked to degenerative disc disease, which affects structures in the anterior aspect of the vertebral column. FJ OA and degenerative disc disease are both common causes of back and neck pain.
An abnormality of the cardiac ventricular function.
The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.
Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.
A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.
Pulmonary capillary wedge pressure (PCWP) above 15mmHg.
Increased pulmonary arterial wedge pressure
Increased pulmonary artery occlusion pressure
The pulmonary capillary wedge pressure refers to the pressure measured by wedging a pulmonary catheter with an inflated balloon into a small pulmonary arterial branch.
Increased pulmonary capillary wedge pressure
Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).
Obstructive deficit on pulmonary function test
Obstructive deficit on pulmonary function testing
A low FEV1/FVC ratio indicates an obstructive defect. There are several cutoffs in the literature. The first option is to follow the GOLD criteria, which use a cutoff of less than 70 percent. For patients five to 18 years of age, the National Asthma Education and Prevention Program guideline says that a ratio of less than 85 percent is consistent with an obstructive defect as long as the patient has symptoms consistent with obstructive lung disease. The second option is to follow the ATS criteria, which use the lower limit of normal (LLN) as the cutoff for adults. The LLN is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III).
Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.
Abnormality on pulmonary function testing
Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.
Interlobular septa are 10-20nm long structures at the border of the secondary pulmonary lobules and which are usually perpendicular to the pleura in the periphery of the lung. Interlobular septa are composed of connective tisues and contain pulmonary venules and lymphatics. Diseases that affect one of the components of the interlobular septa may lead to thickeninig of the septa, which makes the visible on computed tomography (CT) scans. Some of the diseases that may be associated with this phenotypic feature are pulmonary edema, pulmonary lymphangitis carcinomatosis, leukemic or lymphomic involvement of the lung, diffuse alveolar hemorrhage, Nieman-Pick disease, and pneumonia. The terms septal lines or septal thickening may also be used to describe interlobular septal thickening. Earlier descriptions include the terms peripheral lines, short lines, and interlobular lines.
Interlobular septal thickening on pulmonary HRCT
Excessively reduced blood flow in response to cold or emotional stress, causing discolouration of the fingers, toes.
Trapping and compression of the rotator cuff tendons during shoulder movements.
Shoulder impingment can cause the rotator cuff tendon to become inflamed and swollen (rotator cuff tendonitis). Similarly, shoulder impingement can cause the bursa to become inflamed (shoulder bursitis).
Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.
Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.
Feeding problem necessitating gastrojejunal tube feeding.
The rationale for gastrojejunal tube feeding is that placing the tip of the tube beyond the ligament of Treitz prevented duodenogastric reflux or gastro-esophageal reflux. Gastrojejunal feeding tubes have since been used in children who are deemed too unfit for antireflux surgery or where fundoplication has failed.
Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.
A anomaly in the rate of apoptosis in lymphocytes.
A elevation in the rate of apoptosis in lymphocytes.
The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).
Substantially shortened length of the small intestine as a result of a developmental defect.
The mean length of the small intestine in full-term newborns is approximately 240 cm, increasing to 430 cm by 15 years of age. In adults, the average small bowel length is reported to be 600 cm, with a range of 260 cm to 800 cm. Short bowel syndrome (SBS) is a clinical disorder that is characterized by diarrhea and malabsorption following the functional or anatomical loss of enough small bowel length to markedly compromise intestinal absorptive capacity. SBS may result from from surgical resection, congenital defect, or disease-associated loss of absorption. This term describes congenital shortening of the small intestine that is one phenotypic feature of SBS.
A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
Hyperintensity of cerebral white matter on MRI
Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.
Periventricular cerebral white matter hyperdensities
Periventricular white matter hyperintensities
See also defintion for "Deep cerebral white matter hyperdensities". These two entities are in contra-distinction to each other.
Periventricular white matter hyperdensities
Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.
See also defintion for "Periventricular white matter hyperdensities". These two entities are in contra-distinction to each other.
Deep cerebral white matter hyperdensities
Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.
Abnormal response to short acting pulmonary vasodilator
No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.
Insufficient response to short acting pulmonary vasodilator
An anomaly of the muscular contractions that propel food though the gastrointestinal tract.
A deviation from the normal amount of time required for food to pass through the intestines.
Gastrointestinal motility is usually described in terms of regional transit times or as intraluminal pressure changes. Scintigraphy is the gold standard for determination of gastric emptying and small intestinal transit
A reduction in the length of time required for food to pass through the intestines.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.
A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.
The palmomental reflex is often present in normal people and may be absent in disease states. Testing merely for the presence or absence of the reflex therefore lacks both specificity and sensitivity. A strong, sustained, and easily repeatable contraction of the mentalis muscle, which can be elicited by stimulation of areas other than the palm, is more likely to indicate cerebral damage.
A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].
A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.
A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout [NCBI Books:NBK395].
A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched [NCBI Books:NBK395].
Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.
The differential diagnosis of thunderclap headache (TCH) includes subarachnoid hemorrhage, ischemic stroke, cerebral venous thrombosis, cervical arterial dissection, acute hypertensive crisis, retroclival hematoma, pituitary apoplexy, and pheochromocytoma.
The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).
LKM1 is conventionally detected by immunofluorescence (IFL), a subjective technique, using rat liver, kidney, and stomach as a composite substrate.
Liver kidney microsome type 1 antibody positivity
The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.
Anti-liver cytosol antibody-1 positivity
These autoantibodies may be observed in a subset of persons with autoimmune hepatitis.
Anti-liver cytosolic antigen type 1 antibody positivity
The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as Duplicated clitoris. A bifid clitoris is almost invariably accompanied by Epispadias, which should be coded separately.
The word bifid indicates the presence of a split clitoris, as opposed to a supernumerary clitoris, which could be described as duplicated clitoris.
Marked rugae formation of the skin of the labia majora.
Some rugae formation is typically found on the labia majora, but less than on the scrotum.
Exaggerated rugosity of the labia majora
An anomaly of the wave-like muscle contractions of the digestive tract.
Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.
Cerebellar edama can manifest on magnetic resonance imaging as hyperintense T2 and FLAIR signals, which do not show restricted diffusion.
The APGAR score was developed by Dr. Virginia Apgar to quickly assess the status of newborn children. It is determined based on scoing five criteria (Appearance, Pulse, Grimace, Activity, Respiration) on a scale of zero to two each and summing the five values. A score of 7 and above is considered normal, 4 to 6 low, and 3 or less critically low. The 1-minute score is used to assess how well the neonate tolerated the birthing process, and the 5-minute score is used to assess how well the neonate is adapting to the postnatal environment.
A normal APGAR score can be coded as 'not Low 1-minute APGAR score'.
A normal APGAR score can be coded as 'not Low 5-minute APGAR score'.
A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.
Oral erythroplakia may be related to local irritants and infection, candida infection. Oral erythroplakia may be dysplastic or (pre-)neoplastic.
A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.
Abnormality of intestinal smooth muscle morphology
Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.
Segmental additional circular muscle coat
The intestinal muscularis propria is organized into discrete inner circular and outer longitudinal layers of muscle fibers that are oriented perpendicular to one another, except in the appendix, where the arrangement is more haphazard. The myenteric plexus of ganglia and nerves is sandwiched between the 2 muscle layers and is required for peristaltic activity. Maldevelopment or disruption of the neural or muscular elements can impair intestinal motility and cause intestinal pseudo-obstruction. This term refers to a malformation of the muscularis propria, with supernumerary and/or haphazard orientation of muscle fibers.
The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.
Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.
Enteric intraneuronal nuclear inclusion bodies
An increased thickness of the eyelid not related to acute inflammation.
Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.
Papillae may be observed with papillary conjunctivitis. The inflammatory cells in the papillae may differ according to the cause. For instance, eosinophils predominate in allergic conditions and neutrophils in bacterial disease.
Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.
The follicles in follicular conjunctivitis are usually most prominent in the inferior palpebral and forniceal conjunctiva. As compared to conjunctival papillae, conjunctival follicles appear more pale on the surface and redder at the base.
Increased activity of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.
Gamma-glutamyl transferase (GGT) is elevated with most liver diseases and with bile duct damage. Its main clinical use is in the evaluation of patients with isolated elevation in alkaline phosphatase (which can be of hepatic or bone origin). However, there are extrahepatic causes of GGT elevation including pancreatitis, prostate carcinoma, breast carcinoma, lung carcinoma, systemic lupus erythematosus, and congestive heart failure.
Elevated gamma-glutamyltransferase activity
An abnormal accumulation of protein in the glomerulus.
An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.
Common causes of pulmonary venous hypertension are obstruction to left ventricular (LV) inflow, LV systolic dysfunction, severe mitral regurgitation, and acute pulmonary and systemic volume overload. As the pulmonary venous pressure nears 22 mm Hg, interstitial pulmonmary edema may develop. As it reaches 25 mm Hg, alveolar edema may ensue.
Excessive formation of fibrous bands of scar tissue in between muscle fibers.
Pathophysiologic fibrosis, which is essentially an excessive accumulation of extracellular matrix components, particularly collagen, is the end result of a cascade of events proceeding from tissue injury via inflammation, and resulting in permanent scar formation. Fibrosis can impair tissue function. In skeletal muscle, fibrosis is most often associated with the muscular dystrophies.
Multiple cream-yellow colored hypopigmented choroidal anomalies whose size is approximately one quarter to one half of that of the optic disc, and whose location tends to cluster around the optic nerve radiating towards the periphery. The pattern of the lesions is said to be similar to gunshot spatter from birdshot.
Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.
An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol.
An anomaly of the electrical conduction physiology of the heart.
Abnormality of cardiovascular system electrophysiology
A bowing (bulding to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.
Interventricular septal aneuryms may involve either the membranous or muscular portion of the interventricular septum. Membranous interventricular septal aneurysm is more common.
Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).
Interventricular septum membranous part aneurysm
Aneurysm of the membranous ventricular septum
The pars membranacea is the last portion of the septum formed in the fetus, is lo-cated between the left and right ventricles in front of the tricuspid valve, and between the left ventricle and the right atrium, behind the tricuspid valve. It lies in close proximity to the aortic and atrioventricular valves and is considered to be the weakest part of the ventricular septum. The aneurysms of the membranous portion usually measure 1 to 2 cm in all diameters and their walls are composed of fibrous tissue forming thick trabeculae when seen from the left ventricle. They can project into different portions of the right ventricle or right atrium.
Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).
Aneurysm of the muscular ventricular septum
Aneurysm of the muscular interventricular septum is a rare entity compared to aneurysms of the membranous part. The majority of cases are due to a previous history of myocardial infarction or VSD closure. Muscular interventricular septal aneurysm can arise from the basal, mid or apical part.
Lens of the eye is smaller than normal and spherically shaped.
A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.
Abnormal morphology of the great vessels
The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.
An abnormality of the structure of the pulmonary artery.
An abnormality of the function of the pulmonary artery.
An abnormality of the structure of the pulmonary veins.
An abnormality of the function of the pulmonary veins.
An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.
A chronic deviation from normal pressure in the systemic arterial system.
A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise.
The manifestations of postexertional malaise can include dead, heavy feeling after starting to exercise, next-day soreness or fatigue after non-strenuous, everday activities, being mentally tired after slight effort, and feeling physically drained or sick after mild activity.
A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out).
An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.
A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.
Levels of Factor VIII above 250 IU/dL are associated with an increased risk of venous thrombosis.
A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.
Enlargement of the large blood vessels in the choroid.
Choroidal thickening can be a feature of central serous chorioretinopathy and results from focal or diffuse dilatation of large choroidal vessels, which are commonly localized within areas of increased choroidal vascular permeability on indocyanine green angiography.
An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).
A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.
A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.
A deviation from the normal concentration of serum bile acid concentration.
There are two major bile acids, cholic acid and chenodeoxycholic acid, which are synthesised in the hepatocyte by the cytochrome P450-mediated oxidation of cholesterol. These bile acids are secreted into the biliary canaliculi as sodium salts and conjugated with glycine, taurine, sulphate or glucuronic acid, and stored in the gall bladder until excreted into the intestinal lumen in response to a fatty meal. Enterohepatic circulation of bile salts is associated with conversion of the primary bile salts to seconday bile salts by bacerial enyzmes. The total bile pool of about 4 grams is recirculated about 5 to 10 times per day. Because serum bile salt concentration can increase by two to five times after a meal it is important that bile salts are measured while the subject is fasting.
A reduction in the concentration of bile acid in the blood.
Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.
Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).
A microbial infection is often for suppurative cholangitis, but the change also occurs in the presence of sterile bile, particularly after bile extravasation. The release of chemokines or cytokines is the likely cause in some cases.
Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.
Granulomatous cholangitis involving the interlobular bile ducts constitutes the hallmark of primary biliary cholangitis and is also found in drug-induced liver disease and sarcoidosis.
Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.
Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.
Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.
Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and and transports them to the duodenum.
The pancreas develops from dorsal and ventral buds that first appear in the fifth gestational week as outgrowths of the primitive foregut. By the seventh gestational week, expansion of the duodenum causes the ventral bud to rotate and pass behind the duodenum from right to left and fuse with the dorsal bud. The ventral bud forms the posterior head and uncinate process, whereas the dorsal bud forms the anterior head, body, and tail. Following this fusion, the ductal systems anastomose, a complicated process with a wide spectrum of possible outcomes. The portion of the ventral duct between the dorsal-ventral fusion and major papilla is termed the duct of Wirsung. The portion of the dorsal duct upstream to the dorsalventral fusion point is called the main pancreatic duct. The segment of the dorsal duct downstream to the dorsal-ventral fusion point is termed the duct of Santorini, or accessory pancreatic duct, which drains at the papilla minor [PMID:242655659].
A congenital anomaly characterized by the presence of two separate pancreatic ducts.
A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.
In pancreas divisum, the majority of the pancreatic gland drains into the minor papilla via the duct of Santorini, whereas the posterior head and uncinate process drain into the major papilla via the duct of Wirsung with the common bile duct. Although most patients are asymptomatic, in some patients, this anomaly is associated with recurrent acute pancreatitis because of inadequate drainage of pancreatic secretions via the minor papilla.
An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).
Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.
Megaduodenum may present with a feeling of gastric fullness, epigastric pain, belching, heartburn, and nausea with vomiting.
Abnormal closure or blockage of the vas deferens.
Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.
CSF rhinorrhea or liquorrhoea commonly occurs following head trauma (fronto-basal skull fractures), as a result of intracranial surgery, or destruction lesions. A spinal fluid leak from the intracranial space to the nasal respiratory tract is potentially very serious because of the risk of an ascending infection which could produce fulminant meningitis.
Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).
Deterioration or loss of the tissues of the saccule of the vestibule.
A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diamter than a normal nerve fascicle.
Simulataneous inflammation of multiple nerves.
Areflexia that is limited to one side of the body.
Abnormally increased sensitivity to pain.
A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.
Orofacial action-specific dystonia induced by speech
Involuntary protrusions, movements, spams and contortions of the tongue.
Tongue dystonia may be triggered by speaking but not during other tasks such as eating, drinking, whistling, and blowing.
Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.
An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the finger.
Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.
Some early studies used the terms sudanophilic lesion or sudanophilia to refer to fatty streaks.
Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring <65 µm typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.
A reduction of joint mobility resulting from changes involving the articular surfaces.
Note that contracture refers to a reduction of joint mobility due to permanent shortening of the soft parts around a joint, muscles, tendons, ligaments, fasciae, or skin. Ankylosis and contracture can occur together or alone. Fibrous ankylosis refers to adhesions between the opposing surface of a joint. Cartilaginous ankylosis implies the fusion of two apposed cartilaginous surfaces. Bony ankylosis or synostosis refers to an osseous union between articulating surfaces.
Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.
Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.
Idiopathic non-cirrhotic portal hypertension
The diagnosis is based on histological examination of the liver. Clinical manifestations include encephalopathy, ascites and variceal bleeding.
Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.
In cases where this sign arises in children treated with bisphosphonates, the sign is known as the zebra stripe sign, which is radiological manifestation of cyclical bisphosphonate therapy prior to closure of epiphyseal growth plates.
Alternating radiolucent and radiodense metaphyseal lines
The label derives from the resemblance of the multiple atrial defects to Emmental cheese, a medium-hard cheese of Swiss origin that features characteristic holes.
Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).
Eccrine syringofibroadenomatous hyperplasia
Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.
A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].
A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].
Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.
A benign skin adnexal tumor of eccrine differentiation.
Cylindromas can be single or multiple and commonly involve the scalp (turban tumor) and face. Multiple cylindromas can have a syndromic association as seen in Brooke-Spiegler syndrome and familial cylindromatosis.
A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.
Gastric leiomyosarcomas are often clinically silent until they reach a large size, bleed or rupture. Thus, the diagnosis is rarely made preoperatively. Since in many cases the mucosa is normal, a definitive diagnosis for resectable tumour is often made after surgery. Seeding of tumour deposits into the serosa or omentum is almost invariably a sign of malignancy.
The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.
This feature was first observed in a condition that was termed Schneckenbecken dysplasia, Schneckenbecken is a German word that means snail-like pelvis.
A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.
Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.
The normal range for serum triglycerides can be taken to be 40 to 150 mg per dL (0.45 to 1.69 mmol per L). Lactescent serum can be seen with triglyceride levels of several thousand mg per dL.
An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.
An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.
A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.
A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.
The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.
A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.
Plasma IGFALS is positively associated with prostate cancer risk.
Abnormal insulin like growth factor binding protein acid labile subunit level
Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.
A decreased blood concentration of growth hormone binding protein.
Reduced growth-hormone binding protein level
Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.
Insulin-like factor 3 (INSL3) is a peptide hormone produced in leydig cells of the testes. Its role in the adult male is unknown but INSL3 and its receptor RXFP2 have been linked to bone cell differentiation. It is speculated that low levels of INSL3 could be responsible for low bone mineral density in patients with primary osteoporosis and Klinefelter Syndrome.
Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.
Meiotic maturation arrest of spermatogenesis
Maturation arrest (MA) of spermatogenesis is diagnosed on histology as interruption of spermatogenesis before the final stage without impairment of Sertoli or Leydig cells. It is considered a condition of irreversible or absolute infertility.
A type of maturation arrest in which only spermatogonia or spermatocytes are found.
A type of maturation arrest in which spermatids are detected without spermatozoa.
Maturation arrest of spermatogenesis at spermatid stage
Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.
Diagnosis of superior vena cava obstruction may be made by computed tomography with contrast and other means.
Inflammed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.
A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.
A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.
Individuals with BDA5 may have nail dysplasia; this should be coded separately.
Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet=.
A developmental defect characterized by lack of a soft palate.
An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.
A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy.
An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.
An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased blood concentration of vascular endothelial growth factor (VEGF).
Elevated vascular endothelial growth factor level
Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.
Coarctation in the transverse aortic arch
Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.
A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).
Abnormal branching pattern of left aortic arch
A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.
A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.
Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.
Impairment of activities of daily living
This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.
This applies to an individual who needs help with dressing or needs to be completely dressed.
This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.
Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.
Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.
Partial or total incontinence of bowel or bladder.
A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.
Empty follicle syndrome (EFS) has been defined as a condition in which no oocytes are retrieved from mature ovarian follicles with apparently normal follicular development and estradiol levels, after COH for an assisted reproductive technology (ART) cycle, despite repeated aspiration and flushing.
Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion exceeds this range.
Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.
Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion is below this range.
Any anomaly of the structure of an organ ofthe endocrine system.
Any anomaly of the function of the endocrine system.
An anomalous response to a test that is designed to probe the function of the endocrine system.
Abnormal response to endocrine stimulation test
An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.
Abnormal response to adrenocorticotropic-hormone stimulation test
Abnormal response to corticotropin stimulation test
Abnormal response to ACTH stimulation test
An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measred at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.
Abnormal response to insulin tolerance test
Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
Impaired cortisol response to insulin stimulation test
An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.
Abnormal response to CRH stimulation test
Abnormal response to corticotropin releasing hormone stimulation test
Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.
Impaired cortisol response to corticotropin releasing hormone stimulation test
Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).
Impaired growth-hormone response to insulin stimulation test
An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).
Abnormal response to glucagon stimulation test
Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.
Impaired cortisol response to glucagon stimulation test
Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.
Impaired growth-hormone response to glucagon stimulation test
An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.
Abnormal response to hCG stimulation test
Abnormal response to human chorionic gonadotrophin stimulation test
An abnormally high increase in insulin levels following a glucagon stimulation test.
Excessive insulin response to glucagon test
A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.
Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.
The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.
Swelling related to fluid accumulation within the palate.
Fingers appear swollen and plump owing to inflammation of the complete finger.
Toes appear swollen and plump owing to inflammation of the complete toe.
Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).
Any anomaly of the structure of the breast.
Any anomaly of the function of the breast.
Any anomaly of the structure of the humerus.
A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.
Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Abnormal circulating thyrotropin concentration
Abnormal thyroid-stimulating hormone level
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Decreased thyroid-stimulating hormone level
Any deviation from the normal concentration of iInhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.
A reduced concentration of inhibin B in the blood.
Inhibin B, a dimer with an alpha and a betaB subunit, is produced exclusively by the testis and controls FSH secretion via a negative feedback mechanism.
Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.
An elevation above the normal range of the antimullerian hormone in the circulation.
A reduction below the normal range of the antimullerian hormone in the circulation.
The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.
Any anomaly of the structure of the uterus
An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.
Reduced width of the cross sectional diameter of the fibula.
A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.
Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.
As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.
A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.
A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.
A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.
A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.
Bicuspid aortic valve with right-left cusp fusion
A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.
Bicuspid aortic valve with right-noncoronary cusp fusion
A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.
Bicuspid aortic valve with left-noncoronary cusp fusion
A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.
Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.
Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).
Decreased platelet thromboxane A2 receptor
Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.
Decreased platelet alpha-2A-adrenergic receptor
Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.
Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.
Impaired convulxin-induced platelet aggregation
Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.
Impaired collagen-related peptide-induced platelet aggregation
Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.
Impaired phorbol myristate acetate-induced platelet aggregation
Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.
Impaired Ca ionophore-induced platelet aggregation
Impaired Ca2+ ionophore-induced platelet aggregation
Impaired calcium ionophore-induced platelet aggregation
An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.
Abnormal platelet phosphatidylserine exposure
Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.
Impaired annexin V binding to platelet phosphatidylserine
Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.
Increased annexin V binding to platelet phosphatidylserine
A developmental anomaly of the heart characterizedby the presence of three atria because the left atrium is divided by an abnormal septum.
Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).
A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.
Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.
A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).
Increased plasma levels of circulating natriuretic peptides (NP) have been described in patients with congestive heart failure and are directly proportional to the severity of congestive heart failure as classified by the New York Heart Association criteria.
Abnormal B-type natriuretic peptide level
A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.
An abnormal appearance of the liver or any of its components on sonography (ultrasound).
Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.
Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).
Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.
The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.
An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).
Starry sky appearance on hepatic sonography
An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.
Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.
Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.
Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.
Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.
Vitreous humor of the eye displaying beaded bundles of irregular diameters.
An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.
Increased Arden ratio of electrooculogram
Decreased platelet cell membrane concentration of glycoprotein Ib.
An abnormal connection between a carotid artery and the cavernous sinus.
The cavernous sinus is a dural venous sinus in the skull that is adjacent to the temporal bone and the sphenoid bone. The carotid cavernous fistula is a type of arteriovenous fistula that causes arterial blood to enter the cavernous sinus. Clinical findings include head, ocular, and facial pain, pulsatile proptosis, chemosis, periorbital edema, conjunctival injection, double vision, glaucoma and, visual loss.
An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.
A reduction in the thickness of Descemet's membrane.
Impaired egress of mature neutrophils from bone marrow causing neutropenia.
The word myelo-kathexis is derived from the Greek words for marrow (myelo) retention (kathexis). Unlike other forms of severe neutropenia, myelokathexis is characterized by granulocytic hyperplasia in the bone marrow, which contains neutrophils with cytoplasmic vacuoles, nuclear hypersegmentation, and pyknotic nuclear lobes connected by thin filaments.
An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).
Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.
In the involuntary pharyngeal phase, the soft palate rises to close the nasopharynx and prevent nasal regurgitations. The hyoid bone rises, bringing the larynx up, while the epiglottis closes the entrance to the larynx. The base of the tongue contacts the pharyngeal wall, at the same time as the hyoid moves forward, coinciding with the relaxation of the cricopharyngeus muscle and the opening of the upper esophageal sphincter.
Reduced bone mineral density of the femur.
Osteopenia is defined as BMD between 1 standard deviation (SD) and 2.5 SD below the mean of the young reference group. Osteoporosis is defined as BMD 2.5 SD or more below the mean of the young reference group.
Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).
Involuntary, fine, continuous, undulating contractions of the eyelid.
Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.
In contrast to paramyotonia congenita or hyperkalaemic periodic paralysis, potassium-aggravated myotonias (PAM) patients show no muscle weakness and hardly any cold sensitivity. However, they show an aggravation of their myotonia after ingestion of potassium, which distinguishes them from patients with chloride channelopathies.
Triggered by ingestion of potassium-rich food
A pregnancy that extends to 42 weeks of gestation or beyond.
This term can apply to a child born of a postterm pregancy.
Fetal masculinization of female external genitalia.
This anomaly can be observed with etiologies including 21-hydroxylase deficiency, pregnancy luteomas, and maternal intake of progesterones.
A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.
A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.
A bony projection (spur, osteophyte) originating from the tibia.
An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.
This feature can be observed in Multiple epiphyseal dysplasia type 4. It is distinct from bipartite patella, which is characterized by an unfused accessory ossification center at the superolateral aspect of the patella. Double layer patella appears to be caused by the presence of several patellar ossification centers.
A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.
A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.
Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.
Head is bent in the posterior direction in a permanent fashion.
Resistnace of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.
Meningism is resistance to neck flexion due to painful spasm of extensor muscles resulting from meningeal irritation. The diagnosis of meningism is made in someone whose symptoms simulate meningitis, but in which no actual inflammation of these membranes is present. Nuchal rigidity can thus be observed in individuals with meningitis or with meningism.
An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).
Erythema migrans develops at the site of the deposition of Borrelia burgdorferi 7 to 14 days (range, 1-36 days) following the detachment of certain Ixodes ticks. The most important differential diagnosis is a localized and transient inflammatory reaction to the bite of an arthropod that is not associated with infection and resolves spontaneously within a day or two, and is usually less than 5 cm in size.
Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.
This feature can be a manifestation of glucagonoma and other cancers.
An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).
An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.
Abnormal circulating deoxycorticosterone level
An abnormality of the concentration of pregnenolone in the blood.
Neurosteroids are steroids synthesized within the central nervous system as well as in other steroidogenic organs/tissues. In contrary with the classical actions through intracellular receptors, extensive evidence has established that neurosteroids can exert rapid, potent actions at the cell membrane via allosteric interactions with the GABAA receptor. Pregnenolone is a naturally occurring neurosteroid directly metabolized from cholesterol and the precursor of virtually all neurosteroids.
Abnormality of circulating pregnenolone level
A buildup of fluid that causes swelling in the soft tissues of the genital area.
A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.
Wrist drop can be caused by radial nerve palsy.
Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis.
Superficial perivascular inflammatory infiltrate
Superficial dermal perivascular inflammatory infiltrate
Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.
Deep perivascular inflammatory infiltrate
Deep dermal perivascular inflammatory infiltrate
Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).
Abnormal morphology of left ventricular trabeculae
Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).
Abnormal morphology of right ventricular trabeculae
An increased denisty (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).
Increased density of left ventricular trabeculae
An increased number and denisty of the trabeculae in the apex (tip) of the left ventricle.
Apical hypertrabeculation of the left ventricle
Reduced thickness of the outer, dense layer of the myocardium.
The myocardium compact layer is only in the left ventricle.
A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).
A type of cellular urinary cast composed of renal tubular epithelial cells.
Renal tubular epithelial cell casts can be observed in disorders including renal tubular necrosis, cytomegalovirus and other viral infections, kidney transplant rejection.
A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.
A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.
A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.
It has been demonstrated that in patients with proteinuria, fine granules contain ultrafiltered proteins which have been reabsorbed by tubular cells, whilst in non-proteinuric patients coarse granules probably derive from the degeneration of cellular elements, such as leukocytes and renal epithelial cells present in the tubular lumen during cast formation.
A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.
A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarised light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.
The presence of fatty casts in urine may be associated with heavy proteinuria in patients with nephrotic syndrome.
A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.
Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.
Samples from patients with Wolman Disease display extremely low or unmeasurable levels of lysosomal acid lipase (LAL) activity. Samples from patients with cholesteryl ester storage disease can display residual activities in the 5 to ten percent range.
Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.
A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.
Hepatic hemangiomas are considered the most common benign mesenchymal hepatic tumors. They can be divided into two major groups: capillary hemangiomas and cavernous hemangiomas.
An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.
Increased pituitary glycoprotein alpha subunit level
Increased pituitary glycoprotein polypeptide alpha subunit level
Increased pituitary glycoprotein hormone alpha subunit level
Reduction in the activity of lipoprotein lipase in the blood.
Decreased plasma lipoprotein lipase activity is associated with delayed clearance of triglyceride-rich lipoproteins and low fasting HDL cholesterol.
A deviation from the normal concentration of hyaluronic acid in the blood.
Serum hyaluronic acid (HA) is considered to be a marker of liver function. HA is a glycosaminoglycan that is rapidly cleared from the circulation by the liver via receptor mediated endocytosis into sinusoidal endothelial cells.
Abnormal circulating hyaluronic acid concentration
An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.
The accumulation of cholesterol esters in the arterial intima is a characteristic feature of atherosclerosis.
An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.
An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-hydroxyprogesterone (17-OHP), while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. Moderately increased levels of 17-OHP may indicate an 11-beta-hydroxylase deficiency.
Elevated circulating 17-hydroxyprogesterone
A reduced concentration of dehydroepiandrosterone in the blood. dehydroepiandrosterone is a weak androgen produced by the adrenal glands in both males and females.
Decreased circulating dehydroepiandrosterone level
A reduced concentration of dehydroepiandrosterone-sulfate in the blood.
DHEA is transformed into DHEA-S by sulfation at the C3beta position by sulfotransferase SULT2A1.
Decreased circulating dehydroepiandrosterone-sulfate level
An elevated concentration of progesterone in the blood.
Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.
Hot flashes are most commonly due to menopause but may be observed with other conditions.
A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.
Syndrome of inappropriate antidiuretic hormone secretion
Common etiologies of inappropriate antidiuretic hormone (ADH) secretion include nervous system disease, cancer, pulmonary disease, and as a side effect of a medication. This term is meant to refer to the inappropriately high level of ADH and not to the full syndrome of inappropriate antidiuretic hormone secretion (SIADH), which is considered a disease entity rather than a phenotypic feature.
Inappropriate antidiuretic hormone secretion
A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.
Abnormal radioactive iodine uptake test result
An elevated concentration of thyroxine-binding globulin (TBG) in the blood.
Thyroxine-binding globulin is one of the proteins that binds thyroid hormones in the circulation.
Increased circulating thyroxine-binding globulin level
Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.
Hyperplasia of the islets of Langerhans with a generalized distribution.
Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.
Intrapulmonary shunt may be a result of blood flow through collapsed alveoli, tumors, arteriovenous pathways,and other conditions.
An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.
A teratoma arising in the nasopharyngeal region.
Nasopharyngeal teratoma is histologically benign, but can cause considerable morbidity and mortality because of the location. Nasopharyngeal teratoma represents one of the most unusual causes of respiratory distress during the neonatal period.
An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.
The length of the incisura from the upper to lower border is greater than that observed in the average population.
The length of the incisura from the upper to lower border is less than that observed in the average population.
Width of the incisura from the anterior to posterior border less than that observed in the average population.
Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.
This aspect may be difficult to assess in instances where the anterior and posterior walls of the incisura are not parallel.
A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).
A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).
Collection of neutrophils in the epidermis.
This feature can be seen in a variety of conditions ranging from inflammatory dermatosis like psoriasis, neonatal disorders e.g. transient neonatal pustular melanosis to neoplasms viz. keratoacanthoma.
Predominantly epidermal neutrophilic infiltrate
Collection of neutrophils in the dermis.
Predominantly dermal neutrophilic infiltrate
An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells).
A normal muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.
Internally nucleated skeletal muscle fibers
A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.
A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.
Extrafoveal choroidal neovascularization
A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.
Juxtafoveal choroidal neovascularization
A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.
Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.
Decreased circulating chylomicron levels
Decreased circulating chylomicron concentration
A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.
Decreased circulating very-low-density lipoprotein levels
Decreased VLDL cholesterol concentration
Enlargement of the lip typically due to fluid buildup or inflammation.
A cough that does not produce phlegm or mucus.
A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.
The term whooping cough is usually used to describe the disease caused by infection of the respiratory tract with Bordatella pertussis. This HPO term refers to the major symptom of that disease.
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.
A distortion of the sense of taste, often characterized by the sensation of a metallic taste.
A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.
The left and right subclavian arteries supply blood to the posterior cerebral circulation, cerebellum, posterior neck, upper limbs and the superior and anterior chest wall. The right subclavian artery is a terminal branch of the brachiocephalic artery,and the left subclavian artery is the third branch of the aortic arch (following the left common carotid artery).
Abnormally increased caliber of the left subclavian artery.
Origin of the left subclavian artery from an anomalous anatomical location.
Anomalous origin of left subclavian artery
An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.
An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.
An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.
An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.
This abnormality may be accompanied by gingival swelling adjacent to the affected maxilla as well as by loosening of nearby teeth. Radiographic examination mayreveal a lytic lesion of the maxilla.
Arteriovenous malformation of the maxilla
An inflammation of the ovary or ovaries.
A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle diected laterally (See Figure 2 of PMID:18616733).
An abnormal growth that projects from the mucous membrane of the urinary bladder.
Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.
A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.
Abnormal renal glomerular capsule morphology
Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.
An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.
Two stages of podocyte foot process effacement (FPE) may clearly be distinguished. Within the first stage, foot processes undergo tremendous changes in shape, losing their regular interdigitating pattern and retracting into short irregularly shaped cell projections. Slit diaphragms are lost or displaced from their usual position at the base and replaced by occludens-type junctions between the deformed, broadened foot processes. These changes are necessarily associated with considerable movements of these processes in relation to the glomerular basemenet membrane (GBM). The second phase, the completed stage of FPE, includes retraction of the foot processes into the primary podocyte cell processes, leading to broad flattened disc-like projections that cover the GBM, finally merging with the cell bodies. At this point, the cell bodies have lost their usual position floating above the GBM within the filtrate in Bowman space. Instead they broadly adhere directly to the GBM. The subpodocyte space beneath the podocyte cell body has largely disappeared in this stage.
Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.
This feature can be measured by flow cytometry.
Abnormal CD69 upregulation upon TCR activation
Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).
Decreased CD69 upregulation upon TCR activation
Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.
Abnormal CD25 upregulation upon TCR activation
Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).
Poor CD25 upregulation upon TCR activation
Reduced IL2RA upregulation upon TCR activation
Decreased CD25 upregulation upon TCR activation
The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery,cannot be detected on physical examination.
Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.
Pulmonary artery atherosclerosis is less common than systemic arterial atherosclerosis.
The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.
A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.
A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage
Distribute shock is caused by inadequate cardiac preload due to vasodilatation and vascular leakage. Etiologies include postoperative SIRS, sepsis, anaphylactic reaction.
A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).
Any structural anomaly of the thoracic duct.
An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).
Abnormal response to GnRH stimulation test
This test is regarded as the gold standard to identify central precocious puberty.
Abnormal response to gonadotropin-releasing hormone stimulation test
An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormine stimulation test.
Increased LH response to gonadotropin-releasing hormone stimulation test
A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.
The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.
Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.
Flushing can occur on the face, neck and, less frequently, the upper trunk and abdomen.
Any structural anomaly in the areas surrounding the hair follicles.
A raised growths on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.
Seborrheic keratosis is a benign lesion of the skin that occurs more frequently in sunlight exposed areas. The lesions can appear anywhere on the body, but most often occur on the face, chest, and back. There may be just one or clusters of dozens.
The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.
A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.
A circumscribed area of pus or necrotic debris in the skin.
Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.
Underdeveloped, small right heart atrium.
An abnormal increase in the thickness of the atrial septum.
Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.
Abnormal increase in size of the coronary sinus.
The coronary sinus is rarely seen on echocardiography in healthy persons. The differential diagnosis of dilated coronary sinus includes right ventricular dysfunction, right atrial hypertension, and anomalous venous drainage into the coronary sinus.
An abnormal increase in magnitude of the pressure in the left atrium.
A deviation from the normal concentration of properdin in the blood.
There are three pathways of complement activation, the classical pathway, lectin pathway, and alternative pathway. Each generates a C3 convertase, a serine protease that cleaves the central complement protein, C3. Nearly all the biological consequences of complement are dependent on the resulting cleavage products. Properdin is a positive regulator of complement activation that stabilizes the alternative pathway convertases (C3bBb). Properdin is composed of multiple identical protein subunits, with each subunit carrying a separate ligand-binding site.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.
Peripheral arterial calcification can be observed on radiographs and may be classified as either medial (linear calcifications in a train-track pattern) or atherosclerotic (distinct, nodular calcifications). A number of other techniques may also be used to detect peripheral arterial calcification including computed tomographic (CT) and magnetic resonance (MR) imaging, duplex ultrasonography, measurement of pulse wave velocity, echocardiography, planar radiographs, and indirectly, the ankle-brachial index.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.
Lower extremity peripheral artery calcification
Lower extremity peripheral arterial calcification
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.
An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.
A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.
Abnormal ventricular myocardium morphology
Presence of an increased amount of fat tissue withina cardiac ventricle with corresponding reduction of muscle tissue.
Fatty replacement of ventricular myocardial tissue
A nonparallel arrangement of cardiac myocytes.
The presence of a sufficient quantity of myocardial fibers showing this change is considered to be a specific histological feature of hypertrophic cardiomyopathy.
An abnormal increase in the volume of cardiac myocytes.
Adult cardiac myocytes are highly specialized, terminally differentiated cells which have lost the ability to divide. The increase in heart muscle mass seen in cardiac hypertrophy occurs predominantly through an increase in myocyte size rather than number. Hypertrophy is the principal response of the heart to overload from any cause, including hypertension, myocardial infarction, valvar heart disease, and dilated cardiomyopathy.
An abnormal increase in the number of mitochondria per cardiac myocyte.
Cardiomyocyte mitochondrial proliferation
An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).
An increase in the number of lymphocytes in myocardial tissue.
An increase in the number of eosinophils in myocardial tissue.
The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.
The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.
A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.
Monoclonal light chain cardiac amyloidosis
A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.
A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.
A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.
An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.
Perivascular myocardial immune cell infiltration
Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.
Deterioration of cardiomyocyte charyacterized by abnormal features sich as loss of myotilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.
A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and action that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.
Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.
An anomaly of the structure of mitochondria within cardiomyocytes.
Abnormal cardiomyocyte mitochondrial morphology
Abnormal localization of mitochondria within the nuclei of cardiomyocytes.
Electron microscopy of mammalian cardiac and skeletal muscle tissues reveal mitochondria as individual organelles situated either in clusters beneath the sarcolemma (subsarcolemmal mitochondria) or in longitudinal rows within the contractile apparatus (interfibrillar mitochondria).
Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.
Abnormal cardiomyocyte connexin43 staining
Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.
Abnormal cardiomyocyte plakoglobin staining
Anomalous staining of dystrophin in cardiomyocytes.
Dystrophin, a 427-kD cytoskeletal protein, is a member of the beta-spectrin/alpha-actinin protein family. Dystrophin and the dystrophin-associated proteins (dystroglycans, sarcoglycans, sarcospan, dystrobrevin, and syntrophins) form a complex that is involved in contractile force transmission and stabilization of the plasma membrane.
Abnormal cadiomyocyte dystrophin staining
A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.
D-loop transposition of the great arteries
Dextrotransposition of the great arteries
A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.
A malignant soft tissue neoplasm that arises from the heart.
A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.
An unpleasant sensation of tightness or pressure in the chest.
Otitis media characterized by thick or sticky fluid behind the tympanic membrane.
Difficulty initiating sleep, that is, increased sleep onset latency.
Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep.
A type of insomnia characterized by waking up (too) early in the morning.
A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.
Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities).
A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).
A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.
Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmicv inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes in a sex-specific manner (i.e. only in males or only in females).
Sex-limited autosomal recessive inheritance
A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).
A purpuric lesion that is larger than 1 cm in diameter.
Purpura that is flat (non-palpable, not raised).
A neoplasm that affects the hard palate, soft palate, or uvula.
Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).
A hole (perforation) in the wall of the intestine.
A hole (perforation) in the wall of the colon.
A hole (perforation) in the wall of the small intestine.
A hole (perforation) in the wall of the rectum.
Increased muscle weakness upon exposure to cold temperatures.
Increased rigidity and reduced mobility of the tongue.
Reduced strength of the muscles that lift or otherwise move the foot at the ankle.
Applies to a sign or symptom that is difficult to treat or cure.
Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.
Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.
Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.
Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).
Reduced lymphocyte proliferation to mitogen
Decreased lymphocyte proliferation in response to mitogen
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.
Decreased lymphocyte proliferation in response to anti-CD3
Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.
Abnormal lymphocyte surface marker expression
A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.
This feature can be observed with X-linked Hyper IgM (XHIGM) syndrome. As a consequence of the deficiency in CD40 ligand, T-lymphocytes in patients with XHIGM are unable to instruct B-lymphocytes to switch their production of immunoglobulins from IgM to IgG, IgA and IgE.
The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.
Megakaryocytes with a hypolobulated nucleus can be seen in normal bone marrow but numbers are increased in some patients with myelodysplastic syndrome.
The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.
Micromegakaryocytes are characteristic of myelodysplastic syndromebut may be seen in other conditions.
The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.
A multinucleated megakaryocyte is a cell of normal size with two or more nuclei. Binucleated micromegakaryocytes should be categorized as such rather than as multinucleated megakaryocytes since the restricted size is of more diagnostic significance than the presence of two nuclei. Multinucleated megakaryocytes are seen in small numbers in normal bone marrow aspirates but in larger numbers in some patients with MDS.
Increased multinucleated megakaryocyte count
The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.
A large megakaryocyte with a hyperlobulated nucleus is a cell that is larger than average size and has more nuclear lobulation than average. Some such megakaryocytes are seen in normal bone marrows but when they are present as an increased proportion they should be commented on. Increased numbers are seen sometimes in myelodysplastic syndrome but they are more frequent in myelodysplastic/myeloproliferative neoplasms (MDS/MPN) and in MPN, particularly essential thrombocythemia.
A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.
Any abnormality in the proportion of CD4 T cells relative to the total number of T cells.
Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.
Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.
Any abnormality in the proportion of naive T cells relative to the total number of T cells.
Following the development of T cells in the thymus, they enter the blood stream and recirculate between the blood and peripheral lymphatic tissues. Mature recirculating T cells that have not yet encountered their specific antigen are known as naive T cells. Mature T cell not yet exposed to antigen with the phenotype CCR7-positive, CD45RA-positive, and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. Human mature CD4+ T cells are functionally heterogeneous and can be divided into naive and memory/effector populations based on the expression of cell surface markers. Although the most significant differences between these two populations are functional, the leukocyte common Ag (CD45) was promoted as a potential marker of memory T cells. CD45 Ag may be found in various isoforms depending on alternative splicing of three extracellularly expressed exons. The expression of the highest molecular weight isoform, referred to as CD45RA, defines the population of CD4+ unprimed lymphocytes. Activation of naive lymphocytes through TCR engagement is followed by loss of CD45RA Ag and transition to the expression of the smallest molecular weight isoform CD45RO. These primed cells express high levels of activation Ags, acquire effector functions, and need less costimuli requirements for further activation.
An abnormally decreased proportion of naive T cells relative to the total number of T cells.
An abnormally increased proportion of naive T cells relative to the total number of T cells.
An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution
Abnormal Double negative Treg distribution
Abnormal double-negative alpha-beta regulatory T cell distribution
T lymphocytes bearing the alpha-beta T cell receptor (TCR) but lacking CD4, CD8, and markers of natural killer (NK) cell differentiation, i.e., TCR(+)CD3(+)CD4(-)CD8(-), are known as double-negative (DN) T cells and are defined by their capability of inhibiting immune responses via directly killing effector T cells in an antigen specific fashion. Furthermore, DN Treg cells have been shown to develop regulatory activity after encountering specific antigens, partially mediated by the acquisition of MHC-peptide complexes from antigen presenting cells (APCs).
Abnormal proportion of double-negative alpha-beta regulatory T cell
An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells
Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.
Impaired cellular adaptive immune response
Antigen-specific T cell proliferation defect
Impaired Ag-specific T cell proliferation
Reduced antigen-specific T cell proliferation
Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.
Impaired pathogen-specific CD8 cytoxicity
An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].
Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.
An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).
Mast cells do not normally express CD25, but neoplastic mast cells may be CD25-positive.
Increased proportion of CD25+ mast cells
An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.
Abnormal distribution of CD56 bright/dim NK cells
The cytotoxic activity of CD56 dim NK cells is significantly higher than that of CD56 bright cells (the CD56bright CD16 population being the less cytotoxic) and they contain much more perforin, granzymes and cytolytic granules.
Abnormal distribution of CD56 bright/dim natural killer cells
Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.
An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.
Telomeres are made of repeating TTAGGG/AATCCC units. The overall length of the telomere is over 10 kb at birth and progressively declines with age.
An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.
An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.
High serum 1,25-dihydroxycholecalciferol
Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.
Increased discharge of mucus from the nose.
Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.
A decreased concentration of sex-hormone binding protein in the circulation.
Sex hormone binding globulin (NCBI Gene 6462) is also known as sex hormone binding protein and androgen binding protein.
Reduced sex -hormone binding protein level
A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.
Small yellow foveal lesion with surrounding grey zone
Reduced size of the superior frontal portion of the cerebral cortex.
Any structural anomaly of the cortex of the cerebellum.
Abnormal morphology of the cerebellar cortex
A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.
Abnormal circulating beta-CrossLaps level
Abnormal circulating beta-C-terminal telopeptide level
A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.
Increased circulating beta-CrossLaps level
Increased circulating beta-C-terminal telopeptide level
A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.
Decreased circulating beta-CrossLaps level
Decreased circulating beta-C-terminal telopeptide level
A deviation from the normal concentration of osteocalcin in the blood circulation.
Osteocalcin, also known as bone gamma-carboxyglutamic acid (Gla) protein (BGP), is the most abundant noncollagenous protein of bone matrix. It is released by osteoblasts during bone formation and binds with the mineralized bone matrix. Osteocalcin has an endocrine function, regulating glucose and lipid homeostasis.
An elevated level of osteocalcin in the blood.
A reduced level of osteocalcin in the blood.
The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.
Repetitive use of words, phrases, intonation, or sounds of speech, often of the speechof others.
Repeated and inappropriate mechanical repetition of actions.
A deficit in emotional awareness characterized by difficulties in recognizing and expressing feelings and emotions manifested as a limited ability to respond to facial clues or other signs of emotions in others often accompanied by detached connections to others.
An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm.
A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice.
A speech pattern characterized by abnormally elevated variability of the pitch of the voice.
Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.
A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.
Sex hormone-binding globulin (SHBG, Gene ID: 6462) binds the three sex hormones estrogen, dihydrotestosterone (DHT), and testosterone. Reduction in the level of SHBG can result in an increased level of free (unbound, and therefore active) sex hormones.
Abnormal sex hormone-binding globulin level
A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.
Angiostatin is an internal fragment of plasminogen that specifically inhibits endothelial cell proliferation and migration, and by promoting endothelial apoptosis.
obsolete Abnormal tricuspid valve morphology
Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.
Abnormal tricuspid valve annulus morphology
Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.
Abnormal tricuspid chordae tendinae morphology
Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.
Abnormal tricuspid valve leaflet morphology
An increase in the diameter of the ring (annulus) of the tricuspid valve.
Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.
Multiple pigmented macules located on the skin of the penis.
Multiple vesicles distributed in mutiple distinct groups consisting of multiple adjacent vesicles.
Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.
A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.
An abnormal increase in the amount of subcutaneous fat in the legs.
Lower extremity subcutanous fat hypertrophy
Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple). shiny, isolated, flat-topped papules and plaques.
Mutliple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.
A cystic lesions that forms a benign tumor of an apocrine sweat gland.
A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.
A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).
Any lesion observed on an imaging study of the lung that is associated with increased density (usually showing as increased whiteness in the image).
Increased pulmonary opacity is caused by a decrease in the ratio of gas to soft tissue (blood, lung parenchyma and stroma) in the lung.
Adenoiditis is usually caused by an infection.
A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.
A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].
A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.
Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.
A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.
The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.
A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.
The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time.
A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.
Fears of rejection by and/or separation from significant others, associated with fears of excessive dependency and complete loss of autonomy.
Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself.
Engagement in dangerous, risky, and potentially self-damaging activities, unnecessarily and without regard to consequences; lack of concern for one's limitations and denial of the reality of personal danger.
Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults.
A benign cartilaginous tumors of the lung.
A cognitive or behavioral change that lasts for at least 30 minutes, with evidence of seizures on electroencephalogram.
Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).
Buccal mucosa cells are easy to obtain and are a useful model of some other diseases. For instance, muccal mucosa cells from arrhythmogenic cardiomyopathy patients exhibit changes in the distribution of cell junction proteins similar to those seen in the heart.
obsolete Abnormal mitral valve morphology
Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.
Abnormal mitral valve annulus morphology
An increase in the diameter of the ring (annulus) of the mitral valve.
Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.
Abnormal mitral valve leaflet morphology
Any functional anomaly of the mitral valve.
A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.
Abnormal regional left ventricular contraction
Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.
Reduced contraction of the left ventricular apex
A form of hemolytic anemia that can be triggered by cold temperatures.
The formation of new bone along the cortex and underneath the periosteum of a bone.
An anomaly of blood vessels located in the lip.
A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.
A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.
Atypical connection between arteries and veins
A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.
A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.
Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.
Continuous spike and waves during slow sleep
A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].
Epithelial neoplasm is a benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas.
Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.
Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.
Mucinous cystic neoplasm of the pancreas
A subtype of colorectal carcinoma with mucin lakes.
A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.
An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.
An abnormal enlargement or swelling in the abdomen.
An abnormal enlargement or swelling in the pelvic region.
A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].
Urine has an increased amount of frothy fine bubbles.
A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
Any deviation from the normal range of the hormones produced by the thyroid gland.
Abnormally dry skin in the area of the nipple of the breast.
A transverse linear fissure (crease) in the lobule of the ear.
This feature may be observed in Beckwith Wiedemann syndrome.
Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.
An anomaly of the collagen fibers located in the skin.
Abnormal cutaneous collagen fibril morphology
Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.
The periodicity of normal collagen fibers is substantially lower than that of Luse bodies.
An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.
Increased proportion of exhausted T cells
Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.
Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
An essential feature of successful mammalian reproduction is the fusion of a sperm with a metaphase II oocyte. Oocytes are first arrested at prophase I and resume meiosis in response to luteinizing hormone (LH). Following spindle assembly and extrusion of the first polar body, oocytes are again arrested at metaphase II until fertilization.
A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.
This lesion is seen chiefly in the oral mucosa.
Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.
An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electorn microscopy.
Cauliflower deformity of dermal collagen fibrils
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.
A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.
A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.
A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria.
Most cases of salivary gland oncocytoma occur in the parotid gland.
A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.
Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.
Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.
Edema/fluid accumulating within the retinal layers.
Deposits accumulating between the outer retina and the retinal pigment epithelium.
Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.
Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.
Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.
This feature is related to Subretinal hyporeflective spaces on macular OCT.
Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.
Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.
An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.
This feature is tested on the right and left side and if positive, each feature contributes one point to the Beighton score.
Passive dorsiflexion of the 5th finger more than 90 degrees
Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.
Increased theta frequency activity in EEG
Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).
Separate origin of the left anterior descending and left circumflex artery
An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).
Anomalous origin of the left circumflex artery from the right coronary artery
Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.
Abnormal dermoepidermal junction morphology
Presence of IgA antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
Linear IgA deposits along the epidermal basement membrane zone
Presence of IgG antibodies in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
Linear IgG deposits along the epidermal basement membrane zone
Presence of complement C3 in the dermoepidermal junction that are dsitributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.
Linear C3 deposits along the epidermal basement membrane zone
Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.
An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.
Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.
T-cell receptor excision circle (TRECs) are extrachromosomal DNA byproducts of T-cell receptor rearrangement and are nonreplicative. TREC analysis provides a very specific assessment of T-cell recovery (eg, after hematopoietic cell transplantation) or numerical T-cell competence
Abnormally low T cell receptor excision circle level
Any anomaly of the progression of electrical impulses through the heart.
Abnormality of cardiac conduction system
The conduction system of the heart initiates and coordinates the electric signal that causes the rhythmic and synchronized contractions of the atria and ventricles. In higher vertebrates, this system comprises the sinuatrial (SAN) and atrioventricular nodes (AVN) and the wiring of the ventricles. The latter comprises the atrioventricular bundle (AVB), the left and right bundle branches (BBs), and the peripheral ventricular conduction system (PVCS).
Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.
Basal cell hamartoma with follicular differentiation
Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphonas,1 referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.
Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.
Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.
Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.
Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.
Reduced granulocyte surface marker level
Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.
Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.
Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.
Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.
Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.
Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.
An abnormal communication between coronary artery and a cardiac chamber.
Coronary cameral fistulas are usually congenital and asymptomatic in majority of patients.
An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.
Coronary cameral fistula to right ventricle
A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.
An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.
An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).
An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.
Any structural anomaly of the pulmonary valve leaflets.
Abnormal pulmonary valve cusp morphology
Any structural anomaly of the aortic valve leaflets.
An abnormally increased thickness of a leaflet of the aortic valve.
A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.
A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.
A type of facial cleftlocated near to but not directly on the midline of the face.
As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.
As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.
A facial cleft characterized by involvment of the orbit.
As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.
The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.
The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.
A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.
The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.
The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.
This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.
In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.
An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.
There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in tranverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.
There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.
This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.
A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.
A conspicuously unhappy disposition characterized by negative assumptions, self-defeating talk, fear of failure, and negative ruminations about past events.
Frequent thinking about or preoccupation with killing onself.
Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.
An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.
During fetal life, the eustachian valve directs oxygen-rich blood from the inferior vena cava (IVC) toward the foramen ovale and away from the tricuspid valve. After the closure of the foramen ovale, it does not have a specific function. In echocardiographic examinations, the eustachian valve may appear as a thin flap originating from the orifice of the IVC, or it may be totally absent. Sometimes it may appear as a rigid, elongated structure in the inferior portion of the right atrium or as a membranous, undulating, echogenic mass within the right atrial cavity.
Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.
An anomaly of the PR interval, which is the portion of the ECG from the end of the P wave to the beginning of the QRS complex. A normal PR interval in adults is from 0.12-0.2 seconds.
The PR interval begins at the onset of the P wave and ends at the onset of the QRS complex. This interval reflects the time the impulse takes to reach the ventricles from the sinus node. In contrast, the PR segment begins at the endpoint of the P wave and ends at the onset of the QRS complex. It reflects the conduction from the atrioventricular node, down the bundle of His and through the bundle branches to the muscle.
A reduction in voltage of the PR segment below baseline.
The differential diagnosis includes normal variant, pericarditis or atrial infarct.
Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.
P waves are normally upright in leads I and II and inverted in aVR.
An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.
An increase in voltage of the PR segment below baseline.
V-shaped cut (notch) in the middle of the P wave.
One may observe notched P-waves in the frontal plane in partial interatrial block.
A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.
P wave below insteadof above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.
The presence of tall, peaked P waves in EKG lead II.
P pulomonale may indicate right atrial enlargement, usually due to pulmonary hypertension.
An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.
An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.
A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.
This abnormally is associated with Internal carotid artery (ICA) agenesis, since the ICA normally enters the skull through the carotid canal.
Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.
Alterations in pigmentation of the fundus are typically not a result of changes in the retina. The variable pigmentation within both RPE and choroid combine to change profoundly the appearance of the normal fundus between individuals. This is partly a racial characteristic and partly genetic.
Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.
Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.
Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.
Shoulder dislocation occurring repeated times.
A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.
Preretinal hemorrhages usually occur at the interface between the posterior hyaloid and inner limiting membrane (ILM). Less frequently, they are located in the superficial retina between the ILM and the retinal nerve fibre layer. These sharply demarcated, dome-shaped hemorrhages show a predilection for the macular region and consequently lead to severe visual impairment.
Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.
A notch or cleft of the lower part of the retina.
Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.
An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.
Anterior chamber flare grade 0 (i.e., a normal finding) should be coded as the negation of this term.
Moderate anterior chamber flare (iris and lens details clear).
Marked anterior chamber flare (iris and lens details hazy).
Intense anterior chamber flare (fibrin/plastic aqueous).
An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.
Drooping of the upper eyebrow below the superior orbital rim.
Eybrow ptosis can be caused by age-related changes in the periorbital soft tissues and soft tissues of the face.
A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.
A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.
Pseudoaneurysms may occur under 4 circumstances: (1) after catheterization; (2) at the site of native artery and synthetic graft anastomosis (eg, aortofemoral bypass graft); (3) trauma; and (4) infection (eg, mycotic PSA).
Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.
Coronary ostial atresia is usually associated with ischemic manifestations
Pathological deposition of calcium salts in the globus pallidus.
Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.
Reduced ability to walk in a straight line while placing the feet heel to toe.
Any structural anomaly located between the pleura and the chest wall.
So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.
Pathologically, honeycombing represents destroyed and fibrotic lung tissue that contains numerous cystic airspaces with thick fibrous walls.
Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.
Anomalous origin of the right subclavian artery from the descending aorta
The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.
The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.
Anomalous origin of the left common carotid artery from the main pulmonary artery
The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.
Anomalous origin of the left common carotid artery from the brachiocephalic trunk
Anomalous origin of the left common carotid artery from the brachiocephalic artery
The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.
Anomalous origin of the right common carotid artery from the aorta
Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.
The left anterior descending artery (LAD) branches off from the pulmonary artery.
Normally the left main coronary artery bifurcates into the left circumflex artery and the LAD.
Anomalous origin of the left anterior descending artery from the pulmonary artery
The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.
Any structural anomaly of the radial artery.
An eccentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves only a portion of the circumference of the vessel wall.
Fusiform ascending tubular aorta aneurysm
A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall
An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.
A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.
An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.
A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.
Pentrating aortic ulcers are typically caused by atherosclerotic lesions.
Tearing of the aortic wall generally associated with profuse internal bleeding.
Any functional defect of the mitral or tricuspid valve.
Abnormal atrioventricular valve physiology
Any functional defect of the tricuspid valve.
Any functional abnormality of a cardiac valve.
Any functional anomaly of the pumonary valve.
The presence of an aortic valve with four instead of the normal three cusps (flaps).
Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.
Systolic anterior motion of the mitral valve
Any abnormal noise generated by the beating heart.
The first two heart sounds, S1 and S2, define ventricular systole. S1 comprises the closure of the mitral and tricuspid valves. S2 is produced by aortic and pulmonic valve closure.
The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.
Abnormally increased volume of the first heart sound.
S1 may be loud in early phases of rheumatic mitral stenosis.
Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.
Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.
Fixed splitting of S2 may occur in patients with secundum atrial septal defect.
Fixed splitting of the second heart sound
Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).
Reversed splitting of the second heart sound
Paradoxical splitting of the second heart sound
A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.
A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.
A common cause of midsystolic murmurs in adults is aortic stenosis.
A murmur that occurs in the latter phase of systole.
A late systolic murmur heard best at the apex of the heart may indicate mitral valve prolapse.
A heart murmur that occurs during the entire systolic phase from S1 to S2.
A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.
Diastolic murmurs always signify structural heart disease.
A murmur that occurs in the middle of the diastolic phase.
A middiastolic murmur may indicate mitral stenosis.
A murmur that occurs in both systole and diastole.
Continuous murmurs are related to pressure gradients that persist across systole and diastole. A classic example is the murmur related to patent ductus arteriosus.
Typical atrial flutter is an organised atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.
A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.
A type of atrioventricular reentrant tachycardia (AVRT) where the are the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.
Orthodromic atrioventricular reentrant tachycardia
A type of atrioventricular reentrant tachycardia (AVRT) where the are the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.
Antidromic atrioventricular reentrant tachycardia
A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).
Fascicular left ventricular tachycardia occurs predominantly in young males (15-40 years old) without structural heart disease (idiopathic).
A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).
Monomorphic VT originates from a single ventricular focus.
A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).
A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.
Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).
Type I lesions consist of the first microscopically and chemically detectable lipid deposits in the intima and the cell reactions associated with such deposits.The initial histological changes in the human intima are minimal. Small, isolated groups of macrophages containing lipid droplets (macrophage foam cells) form. In coronary arteries these cells pref- erentially accumulate in regions of the intima that have an adaptive intimal thickening of the eccentric type.
Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.
Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.
Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.
Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.
Morbidity and mortality from atherosclerosis is largely due to type IV and type V lesions in which disruptions of the lesion surface, hematoma or hemorrhage, and thrombotic deposits have developed. Type IV or V lesions with one or more of these additional features are classified as type VI and may also be referred to as complicated lesions. Type VI may be subdivided by the superimposed features. Thus, disruption of the surface may be labeled type VIa; hematoma or hemorrhage, type VIb; and thrombosis, type VIc. Type VIabc indicates the presence of all three features.
An atherosclerotic lesion located in the renal artery.
An abnormally elevated amount of alpha1-antitrypsin in the feces.
Alpha-1-antitrypsin is resistant to degradation by digestive enzymes and can therefore be used as a marker for the presence of blood proteins in the intestinal tract (e.g., protein-losing enteropathy).
Increased stool alpha1-antitrypsin concentration
Accentuation of the pulmonic component of the second heart sound
The pulmonic component is considered to be abnormally loud in a subject over age 20 if it is greater than the aortic component in the second left ICS or if it is audible at the cardiac apex. This may be due either to pulmonary artery hypertension or right ventricular dilatation, with part of the right ventricle assuming the position normally occupied by the left ventricle. A split second sound at the apex is, therefore, definitely abnormal. The loud P2 commonly heard at the apex in patients with atrial septal defect is probably due to a dilated right ventricle encroaching upon the cardiac apex [source-NCBI:NBK341].
Abnormally loud pulmonic component of the second heart sound
Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. In peripheral blood.
The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.
An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning.
The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community.
An unusually severe infection by cytomegalovirus.
A typical mononucleosis syndrome consists of an acute febrile illness with an increase of 50 percent or more in the number of lymphocytes or monocytes, with at least 10 percent of the lymphocytes being atypical. Immunocompromised patients may experience more severe complications such as CMV retinitis.
An unusually severe Epstein Barr virus (EBV) infection.
An unusually severe adenovirus infection.
Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses.
An unusually severe infection by a parainfluenza virus.
A viral infection that fails to be contained by the immune sytem and spreads throughout the body.
A dissemination viral infection caused by a live attenuated vaccine virus.
Disseminated infection with live vaccine virus
Failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.
Disseminated Bacillus Calmette-Guerin infection
Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.
A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.
The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.
The terms for anterior chamber cells can be used to select the grade (total number of cells) and then Anterior chamber red blood cells or inflammatory cells can be chosen to specificy whether one or both cells are present. In some scenarios, both cell types may be observed, e.g., followiong trauma.
The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.
A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.
An abnormal position of the head can be due to an ocular or a non-ocular problem. We reserve this term for abnormal head positions that are compensatory for an ocular problem.
A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.
A tendency to turn the face to the right to compensate for a limitation of eye movement.
With a sixth cranial nerve palsy there is a weakened lateral rectus muscule and the affected patient will often turn the head towards the affected eye.
A tendency to turn the face to the left to compensate for a limitation of eye movement.
A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.
With fourth cranial nerve palsy leading to weakness of the superior oblique muscle, affected persons tilt the head away from the affected eye as both eyes are most straight in this position.
Compensatory head tilt to the right shoulder
A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.
Compensatory head tilt to the left shoulder
An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).
Abdominal aortic aneurysms (AAAs) in an advanced stage of development are truly asymmetric, due to the presence of tissue surrounding the abdominal aorta and to the vertebral column located posterior to this artery segment. This makes a large AAA less fusiform and to grow apart from the centerline of the lumen, accounting for a major anterior dilation and a more flat posterior surface.
A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.
A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittant.
An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).
A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.
A type of exotropia in which either eye may be used for fixation.
Exotropia in an individual who has previously had esotropia or esophoria.
Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.
Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.
A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.
An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.
Non-accomodative convergence excess esotropia
Convergent squint which follows loss or impairment of vision.
A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.
A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.
A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.
A type of cyclotropia (torsion of one or both eye about the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.
A form of hypermetropia with not more that +2.00 diopters.
A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.
A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.
Increased lacrimation owing to overproduction of tears.
A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.
A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).
A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.
An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.
Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.
A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.
A functional anomaly of the inferior or superior oblique muscle.
The superior oblique muscle is responsible for incyclotorsion (inward turning) or the eye. The inferior oblique muscle is responsible for excyclotorsion (outward turning) or the eye.
A functional anomaly of the medial rectus muscle or lateral rectus muscle.
Abnormal horizontal rectus muscle physiology
Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.
Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
Decreased strength of the superior rectus muscle.
Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
Mechanical limitation of the range of movement of the superior rectus muscle.
Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
A functional anomaly of the superior or inferior rectus muscle.
Abnormal vertical rectus muscle physiology
A functional anomaly of the lateral rectus muscle.
The lateral rectus muscle is responsible for abduction of the globe (moving the eyeball away from the nose).
Abnormal lateral rectus muscle physiology
Decreased strength (ability to move) of the lateral rectus muscle.
Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
Decreased strength of the medial rectus muscle.
Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.
A functional anomaly of a vertical or horizontal rectus muscle.
Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.
Mechanical limitation of the range of movement of the medial rectus muscle.
Mechanical limitation of the range of movement of the lateral rectus muscle.
A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).
A form of esotropia in which the angle of deviation is not affected by accommodative effort.
Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.
An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.
Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.
Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.
A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.
Constant esotropia with an accommodative component
Constant esotropia with an accommodative element
An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.
Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent. and usually follows surgical overcorrection.
Fixation of an object in the area adjacent to the fovea.
Fixation of an object in a peripheral area of the retina.
A type of epicanthus in which a medial vertical fold is present between upper and lower lids.
A type of epicanthus in which a primarily upper lid fold is present.
Epicanthus tarsalis is a normal anatomic variant in the Asian population.
Any structural anomaly of the posterior circulating artery (PCOM).
The posterior circulating artery (PCOM) forms the posterior portion of the circle of Willis, connecting the interior carotid artery (proximal to its bifurcation into the anterior cerebral artery and the middle cerebral artery) with the posterior cerebral artery.
Abnormal posterior circulating artery morphology
A widening (ballooning) localized in the wall of the posterior communicating artery.
Posterior communicating artery aneurysm can leads to an acute palsy of the third cranial nerve with ipsilateral pupil dilation. Posterior communicating aneurysms can be classified into aneurysms that project laterally and below the tentorial incisura and cause oculomotor nerve compression, and aneurysms that project laterally above the tentorium that can manifest as temporal lobe hematoma if they rupture.
A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.
PCOM infundibula are often considered as normal anatomical variants devoid of pathogenic significance, but have been noted to progress to aneurysms in some cases.
Posterior communicating artery infundibulum
An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.
A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).
A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.
A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.
A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.
A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.
A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.
A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.
A developmental defect in which the coronary sinus fails to form.
Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.
An abnormality in voluntary or involuntary eyelid movements or their control.
Transient eyelid retraction during refixation from down to straight ahead.
Astigmatism in which the refractive power of the vertical meridian is the greatest.
Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).
Astigmatism with more plus power on the horizontal meridian.
A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).
A type of astigmatism related to an irregular shape of the lens.
A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.
An increased concentration of leptin in the blood.
A decrease below the normal concentration of glycerol in the blood.
Any deviation from the normal concentration of glycerol in the blood.
Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.
The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.
Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.
Reduced criculating level of apolipoprotein AI, which is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.
An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.
Any functional anomaly of the vocal cord.
A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal haemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.
Although the fundoscopic appearence of an intraretinal hemorrhage can exibit significant variability it can typically be distinguished from a subretinal hemorrhage (occuring between the neurosensory retina and the RPE) or a sub-ILM hemorrhage (occuring between the internal limiting membrane and the neurosensory retina).
Any deviation from the normal number of basophils per volume in the blood circulation.
An abnormally increased count of basophils per volume in the blood circulation.
An abnormally reduced count of basophils per volume in the blood circulation.
Shortening of the fourth and fifth metacarpals when the fist is clenched.
In 1959, Archibald, Finlay, and De Vito were the first to describe a sign that depended on the relative lengths of the lateral three metacarpals (the metacarpal finding). When a line is drawn tangentially to the circumference of the heads (distal ends) of the fourth and fifth metacarpals, the extension of this line normally passes distally to the head of the third metacarpal and does not intersect the third metacarpal (negative metacarpal finding). In some hands such a line is tangential also to the circumference of the head of the third metacarpal (borderline metacarpal finding). In others the line runs through the distal end of the third metacarpal (positive metacarpal finding).
The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.
Presence of conjugated bilirubin in the urine.
Bilirubinuria may lead to a dark yellow to orange color of the urine. Conjugated bilirubin is excreted in the urine and thus conjugated hyperbilirubinemia may lead to bilirubinuria.
Nitrituria may be diagnosed on the basis of a positive test result on a urine dipstick test. Nitrites are not found in normal urine. Some gram-positive and gram-negative bacteria metabolize nitrates in urine to nitrites, and a positive urine dipstick test for nitrites most commonly suggests a bacterial urinary tract infection.
An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.
Repetition of one's own words or phrases.
A functional anomaly of the mouth (which is also known as the oral cavity).
The physiological functions of the mouth include salivary gland secretory function, mastication (chewing) and preparation of food for swallowing.
Any structural anomaly of the mouth, which is also known as the oral cavity.
An abnormally decreased concentration of parathyroid hormone.
Decreased serum parathyroid hormone level
Decreased circulating parathyroid hormone level
A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.
Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.
Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
Abnormal 6-hydroxypurine phosphoribosyltransferase level
Abnormal hypoxanthine-guanine phosphoribosyltransferase level
Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
Elevated 6-hydroxypurine phosphoribosyltransferase level
Elevated 6-mercaptopurine phosphoribosyltransferase level
Elevated hypoxanthine-guanine phosphoribosyltransferase level
Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.
Reduced 6-hydroxypurine phosphoribosyltransferase level
Reduced 6-mercaptopurine phosphoribosyltransferase level
Reduced hypoxanthine-guanine phosphoribosyltransferase level
Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.
Freezing of gait is one of the most debilitating motor symptoms in patients with Parkinson's disease as it may lead to falls and a loss of independence. Patients may report that their feet are stuck to the floor as if held by magnets when trying to walk, resulting in a temporary blockage of the motor function involved in ambulation.
Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).
Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.
A normal abdominal reflex can be observed as a brisk contraction of the umbilicus toward the quadrant that is stimulated. An absent abdominal reflex can point to neurological disease but may also be absent due to other causes such as obesity.
An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.
Lack of response to scratching of the skin of the medial thigh, which inmales normally elicits a brisk, short eveletion of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.
A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.
A reduced concentration of zinc in the blood.
Overshoot of downward saccadic eye movements.
Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.
Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.
An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
Abnormal superoxide:superoxide oxidoreductase activity
Increased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
Increased superoxide:superoxide oxidoreductase activity
Decreased catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.
Decreased superoxide:superoxide oxidoreductase activity
Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.
The presence of a xenobiotic in body tissues or fluids can be the result of ingestion of or exposure to substances such as drugs, environmental pollutants, food additives, hydrocarbons, and pesticides.
Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.
Methadone is an opioid drug that is used to treat severe pain or in the treatment of individiuals with opioid dependency.
Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.
A sense of intense joy or happiness that is beyond what would be expected under the given circumstances.
Any deviation from the normal sexual drive or desire for sexual activity.
A break or crush injury of the thigh bone (femur).
Reduced ability to walk (ambulate) in a backwards direction.
We walk backward on a daily basis, such as when backing away from the kitchen sink or stepping back from a curb as a swiftly moving bus passes. This task may be particularly difficult for some individuals who can fall as a result of moving or being perturbed in the backward direction. Some individuals with Parkinson disease exhibit this feature.
An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.
A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.
Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.
Note that the hematocrit is one of the measurements that can contribution to the diagnosis of anemia or polycythemia, which is coded separately.
A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.
Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.
The word isomerism is also derived from the Greek: iso-meaning equal and meros-meaning part. Isomerism refers to structures that are themselves mirror-imaged. When used in the area of the congenitally malformed heart, the term isomerism has become the conventional description for the situation in which morphologically right structures or morphologically left structures are found on both sides of the body in the same individual.
A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.
A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.
An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but in affected individuals are able to improve their dystonic gait by walking backward.
Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.
Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).
Esophageal furrows may occur in inflammatory disorders of the esophagus such as eosinophilic esophagitis.
Any abnormality in the variability of the time interval between successive heartbeats.
Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.
The presence of an infectious agent in the blood circulation.
Infectious agents can be classified into five groups: viruses, bacteria, fungi, protozoa, and helminths (worms).
Presence of viable bacteria in the blood.
Clasp-knife phenomonen refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxtion (decrease in resistance) as the muscle continues to be streched. This phenomenon has been likened to opening a clasp knife.
Increased passive stiffness or tightness of the neck musculature.
Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected.
Optic ataxia is related to a cortical neurologic deficit that is a result of a lesion to the superior parietal lobule (SPL) and areas around the intraparietal sulcus (IPS). The phenomenon is thought not to be an apraxia (a disorder in executing learned behaviors), but rather a lack of coordination between visual input and motor outputs, and thus the term ataxia, Greek for Lack of Order.
Dislocation of a given joint repeated times.
An elevated concentration of phosphohydroxylysine in the urine.
There are no clinical manifestations associated with phosphohydroxylysinuria other than the urinary metabolites.
Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles iin immune surveillance and homeostasis.
Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.
Absent Birbeck granules in Langerhans cells
A tendency towards rising very early in the morning and going to bed early in the evening.
A tendency towards rising very late in the morning and going to bed late at night.
Any deviation from the normal concentration of hepcidin in the blood circulation.
Hepcidin, a 25-amino acid peptide exclusively synthesized by the liver, is the main iron regulatory hormone.
An abnormally reduced concentration of hepcidin in the blood circulation.
An abnormally increased concentration of hepcidin in the blood circulation.
Small hands and feet in proportion to the rest of the body.
Any functional abnormality of the eyelid.
Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.
A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.
A congenital abnormality of the cerebral hemisphere chacterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.
An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.
A deviation from normal concentration of glucose content in the cerebrospinal fluid.
Abnormally high glucose concentration in the cerebrospinal fluid.
Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.
Any deviation from the normal circulating concentration of chylomicrons.
Chylomicrons are one of the major classes of lipoproteins. Like VLDL, they function to transport triacylglycerol (TAG) in the circulation. Chylomicrons are synthesized in the small intestine by enterocytes from absorbed lipids. Endothelial cells in the circulation can process TAG from chylomicrons by means of the cell-surface enzyme lipoprotein lipase, which digests the TAG to fatty acids and monoglycerides.
Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.
HDL returns excess cholesterol from cells to the liver via various pathways.
Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.
VLDL is synthesized in the liver and is involved in the transport of triacylglycerol (TAG) to the body.
An elevated concentration of urobilinogen in the urine.
Urobilinogen is formed from the reduction of bilirubin. An increased amount of urobilinogen in the urine may be indicative of liver disease.
Abnormal reduction in the count of eosinophils in the blood per volume.
Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.
Any deviation from the activity of coagulation factor V.
Any deviation from the normal circulating concentration of mast cell beta-tryptase concentration.
Mast cells, which are granulocytes found in peripheral tissue, play a central role in inflammatory and immediate allergic reactions. Beta-Tryptase is a neutral serine protease and is the most abundant mediator stored in mast cell granules. The release of beta-tryptase from the secretory granules is a characteristic feature of mast cell degranulation. Mast cell beta-tryptase has an important role in inflammation and serves as a marker of mast cell activation. Beta-Tryptase activates the protease activated receptor type 2. It is involved in airway homeostasis, vascular relaxation and contraction, gastrointestinal smooth muscle activity and intestinal transport, and coagulation. Serum mast cell beta-tryptase concentration is increased in anaphylaxis and in other allergic conditions.
Abnormal serum mast cell beta-tryptase concentration
An abnormally elevated circulating concentration of mast cell beta-tryptase concentration.
Increased serum mast cell beta-tryptase concentration
An abnormally reduced circulating concentration of mast cell beta-tryptase concentration.
Decreased serum mast cell beta-tryptase concentration
Any deviation from the normal circulating concentration of selenium.
Selenium (Se) is an essential micronutrient that exists in the form of selenocysteine (Sec), the 21st amino acid, upon its incorporation into selenoproteins via the tRNA[Sec] encoded by Trsp. Dietary intake of the micronutrient selenium is essential for normal immune functions. Selenium is cotranslationally incorporated as the 21st amino acid, selenocysteine, into selenoproteins that function to modulate pathways involved in inflammation.
Abnormal circulating selenium concentration
Any deviation from the normal total hemolytic complement activity in the circulation.
The total hemolytic complement test, also known as the CH50, is a screening test for total complement activity.
Abnormal total hemolytic complement activity
An abnormally elevated total hemolytic complement activity in the circulation.
Increased total hemolytic complement activity
An abnormally reduced total hemolytic complement activity in the circulation.
Decreased total hemolytic complement activity
The presence of M2 nti-mitochondrial antibody (immunoglobulins) in the serum.
Anti-mitochondrial antibody (AMA) can be tested via indirect immunofluorescence. The auto-antigens of AMA have been identified as pyruvate dehydrogenase complex-E2 (PDC-E2), branched-chain 2-oxo acid dehydrogenase complex and 2-oxoglutaric acid dehydrogenase complex. The antibody to these antigens is known as AMA-M2. AMA-M2 is more specific to PBC than AMA, and the determination of its titer is feasible
Anti-mitochondrial M2 antibody positivity
Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task.
A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.
A unicornuate uterus with a rudimentary horn is an anomaly caused by defective fusion of one of the paired Mullerian ducts. The incidence of rudimentary-horn pregnancy is estimated to be one in 76,000 pregnancies. Life-threateningly heavy bleeding and abortion are the anticipated outcomes of rudimentary horn pregnancies. According to the literature, the newborn survival rate is between 0-13 percent in pregnancies in the rudimentary horn, with only one third of such gestations reaching term or beyond. Slightly more than half of the pregnancies ended with a rupture of the pregnant uterine horn.
A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.
Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.
Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.
Rhombencephalosynapsis occurs in isolation or in combination with other CNS and extra-CNS malformations. The most common congenital anomaly syndrome associated with RES is Gomez-Lopez-Hernandez syndrome.
Varying irregularly over time in severity, amount, or amplitude.
This modifer can be applied to a phenotypic feature that does not vary in severity or amount over time.
On open sore on the surface of the skin of a finger or toe.
Digital ulcers are a common manifestation of systemic sclerosis, and can be responsible for substantial pain and mobidity.
A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.
Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.
Juvenile type ovarian granulosa cell tumor
An aggressive granulosa cell tumor that arises from the ovary.
The gastrocnemius is located together with the soleus muscle in the calf of the leg. Gastrocnemius myalgia refers to pain and tenderness in this muscle with a course of weeks or months or more. Gastrocnemius myalgia is a rarely observed initial manifestion of Crohn disease.
The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.
Double renal arteries with aortic origin is a benign condition representing the persistence of the embryonic vessels, the lateral branches of the mesonephros, within the renal ascent. The embryonic urogenital ridge from which the kidneys develop is supplied by several paired arteries: the rete arteriosum urogenitale. The later developing metanephric kidneys retain only a single pair of mesonephric arteries, however a variable number may persist.
Accumulation of blood in the vagina usually due to vaginal obstruction.
The presence of linear erythematous palpable cords, often on the lateral trunk.
Its associations include connective tissue disease (particularly SLE), rheumatoid arthritis, autoimmune thyroiditis, carcinomas and drug reactions. Histology reveals an interstitial and palisading granulomatous dermatitis associated with piecemeal fragmentation of collagen and elastic fibres
A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.
Rosettes are named for the flower-like architectural ornament, this pattern resembles the rose windows found in many gothic cathedrals. Rosettes may be considered primary or secondary manifestations of tumor architecture. Primary rosettes form as a characteristic growth pattern of a given tumor type, whereas secondary rosettes result from the influence of external factors on tumor growth.
A type of rosette in which the central lumen or hub is filled with fiber-like processes.
The delicate fibrillary material found within the central lumen of the Homer Wright rosette is composed of neuropil, which contains primitive neuronal processes or neurites. The typical Homer Wright rosette with its central lumen or hub filled with fiber-like processes can also be found in medulloblastomas and histologically similar tumors occurring outside of the cerebellum, designated PNETs.
The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.
A type of rosette in which a halo of cells surrounds a largely empty central hub. Small cytoplasmic extensions from the cells project into the lumen.
A type of rosette in which a halo of cells surrounds an empty lumen.
In contrast to the Homer Wright and the Flexner-Wintersteiner rosettes, the empty-appearing lumen of the true ependymal rosette resembles a tubule lumen and contains no fiber-rich neuropil or central cytoplasmic projections. These tubule-like structures, as well as more elongated versions known as ependymal canals, may represent an attempt by the tumor cells to recapitulate the formation of ventricles with ependymal linings.
A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.
The modifier pseudo differentiates this pattern from the Homer Wright and Flexner-Wintersteiner rosettes, perhaps because the central structure is not actually formed by the tumor itself, but instead represents a native, non-neoplastic element. Also, some early investigators argued about the definition of a central lumen, choosing pseudo to indicate that the hub was not a true lumen but contained structures. Nevertheless, this pattern remains extremely diagnostically useful and the modifier unnecessarily leads to confusion. Perivascular pseudorosettes are encountered in most ependymomas regardless of grade or variant.
A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.
Pineocytomas and central neurocytomas represent well-differentiated neuronal neoplasms with small rounded nuclei, analogous to those normally encountered in the internal granular layer of the cerebellum or the dentate fascia of the hippocampus. Although they likely originate from slightly different precursors, the histologic features of these two tumors are virtually identical, including their tendency to form neuropil-rich rosettes, referred to as pineocytomatous rosettes in pineocytomas and neurocytic rosettes in central neurocytoma
Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.
Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left ventricular cavity.
ALVT is extremely rare with incidence as low as 0.001% of all congenital heart diseases. Most of the patients develop symptoms of heart failure during the first year of life. The onset, severity and progression of heart failure vary and ranges from in-utero fetal death to asymptomatic adulthood.
The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.
A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.
Significant luminal narrowing of a long segment of or the entire ascending aorta.
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usaully between the L1 and L2 lumbar vertebrae).
The tapering end of the conus terminalis continues as the filum terminale.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries with location in the conus terminalis.
Conus terminalis arteriovenous malformation
Any structural anomaly of the portal venous sytem, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.
Abnormal portal venous system morphology
Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.
A state of moror restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.
An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.
An increased concentration of N,N-dimethylglycine in the circulation.
An important metabolic pathway for choline involves its conversion into glycine via betaine aldehyde, betaine, N,N-dimethylglycine (DMG),1 and sarcosine. DMG is converted into sarcosine and sarcosine is converted into glycine by two oxidative demethylation steps mediated by DMG dehydrogenase (DMGDH; EC 1.5.99.2) and sarcosine dehydrogenase (EC 1.5.99.1), respectively. An increased concentration of DMG of DMG can caused by a deficiency of the enzyme dimethylglycine dehydrogenase (DMGDH), which normally catalyzes the conversion of DMG into sarcosine as well as the conversion of sarcosine into glycine.
An increased concentration of N,N-dimethylglycine in the urine.
Elevated urinary N,N-dimethylglycine level
An unintentional, oscillating to-and-fro muscle movement affecting the tongue.
Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.
An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent bacterial upper respiratory tract infections
Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.
Usual interstitial pneumonia (UIP) is usually identified by a honeycombing pattern in a CT scan; in contrast, diffuse interstitial pneumonia (DIP) is not associated with the honeycombing pattern of fibrotic tissue. DIP tends to stabilize or improve after treatment, UIP often continues to progress (irregular lines or honeycombing). Honeycombing, clustered cysts with well-defined walls involving the subpleural lung, is the key finding for making a definite diagnosis of UIP pattern. UIP is associated with autoimmune diseases such as rheumatoid arthritis (and rheumatoid arthritis-interstitial lung disease, or RA-ILD).
Seizures that occur while the affected individual is sleeping.
Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.
Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.
Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.
To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.
An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
Elevated serum glutamic oxaloacetic transaminase
Elevated serum aspartate aminotransferase
Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.
A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.
Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.
The determination of the anion gap is used in the detection and analysis of acid-base disorders, assessment of quality control in the chemical laboratory, and detection of such disorders as multiple myeloma, bromide intoxication, and lithium intoxication. The normal value can vary widely, reflecting both differences in the methods that are used to measure its constituents and substantial interindividual variability.
An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).
Elevated values of the serum anion gap most commonly indicate metabolic acidosis but can reflect laboratory error, metabolic alkalosis, hyperphosphatemia, or paraproteinemia. Metabolic acidosis can be divided into high anion and normal anion gap varieties, which can be present alone or concurrently.
An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).
Low values of the serum anion gap most commonly indicate laboratory error or hypoalbuminemia but can denote the presence of a paraproteinemia or intoxication with lithium, bromide, or iodide.
An abnormally high concentration in the circulation of alanine aminotransferase (ALT), which is an enzyme that catalyzes the transfer of amino groups to form the hepatic metabolite oxaloacetate. ALT is found abundantly in the cytosol of the hepatocyte. ALT activity in the liver is about 3000 times that of serum activity. Thus, in the case of hepatocellular injury or death, release of ALT from damaged liver cells increases measured ALT activity in the serum. Although it is generally thought to be specific to the liver, it is also found in the kidney, and, in much smaller quantities, in heart and skeletal muscle cells.
Elevated serum glutamic-pyruvic transaminase
Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.
Increased red blood cell distribution width
Although RDW has been traditionally used in the investigation of the etiology of anemia there is an increasing evidence linking elevated RDW with poor outcome in general population [4, 5], in patients with coronary artery disease, with metabolic syndrome and heart failure.
The appearance of the urine having visible material in suspension, i.e., appearing cloudy.
Cloudy appearance of urine may be related to the presence of bacteria, blood, sperm, crystals, or mucus.
An abnormally low concentration of urea nitrogen in the blood.
Any deviation from the normal concentration of urea nitrogen in the blood.
Abnormal blood urea nitrogen concentration
A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.
Subaortic ventricular septal bulge has been considered mainly as an incidental finding associated with older age and hypertension, although some authors have suggested that it may be part of the spectrum of hypertrophic cardiomyopathy, may determine some degree of left ventricular (LV) obstruction, which in turn may potentially cause symptoms such as syncope and dyspnea on effort.
Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.
An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disc.
Primary open angle glaucoma is causing a progressive optic neuropathy and its development is associated with loss of tissue in the neuroretinal rim of the optic disc and that will lead to increase in the size of the optic cup. Clinical estimation of the size of the cup using either the slit lamb or a simple imaging modalities such as fundus images is a significant clinical parameter and remains the simplest and most frequently performed assessment of the optic disc in the diagnosis and follows up the progression of the glaucoma suspect. The estimation of the size of the cup is usually made by comparison with the size of the disc and given as the ratio of the vertical and horizontal diameter of the cup to the vertical and horizontal diameter.
Ratio of the height of the cup of the optic nerve head to the height of the disc (The normal cup-to-disc ratio is 0.3).
Increased vertical cup-to-disc ratio - 0.6
Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.7 (The normal cup-to-disc ratio is 0.3).
Increased vertical cup-to-disc ratio - 0.7
Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.8 (The normal cup-to-disc ratio is 0.3).
Increased vertical cup-to-disc ratio - 0.8
Ratio of the height of the cup of the optic nerve head to the height of the disc is 0.9 (The normal cup-to-disc ratio is 0.3).
Increased vertical cup-to-disc ratio - 0.9
Ratio of the height of the cup of the optic nerve head to the height of the disc is 1.0 (The normal cup-to-disc ratio is 0.3).
Increased vertical cup-to-disc ratio - 1.0
Any deviation from the normal concentration of a carbohydrate in the urine.
Carbohydrates, also known as saccharides, comprise mono-, d-, and oligosaccharides (substances from endogenous metabolism or from exogenous sources such as diet). Most saccharides except glucose are readily excreted in the urine, reflecting dieteray consuption. Increased sacchardie levels may indicate an enzyme defect or other disease if a certain type of saccharide or a certain profile is found.
Any deviation from the normal concentration of a carboxylic acid in the urine.
An increased concentration of glycolate in the urine.
Primary hyperoxaluria type 1 is an inborn error of glyoxalate metabolism characterized by excessive production and urinary excretion of oxalate and glycolate.
Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.
This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.
Abnormal chest radiograph finding (lung)
Abnormal pulmonary thoracic imaging finding
A piece of food that has gotten stuck in the esophagus and prevents further swallowing.
Although any type of food can become stuck in the esophagus, in the adult population, structural diseases or abnormalities of the esophagus, specifically eosinophilic esophagitis, are the main causes of food impactions. Eosinophilic esophagitis causes solid food to become stuck in the esophagus intermittently.
An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.
Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant.
Being unable to focus one's attention or mental effort on a particular object or activity.
A sudden involuntary contraction of the musculature surrounding the mouth.
A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.
The Chvostek sign is considered to be a clinical indicator of hypocalcemia.
An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.
Increased urinary excretion of galactosyl hydroxylysine
Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.
A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
The Hoffmann sign is regarded to be test for disease of the corticospinal pathways.
Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.
Squawks are short inspiratory wheezes of less than 200 msduration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and areoften preceded by late inspiratory crackles.
Squawks are found in pulmonary fibrosis of various causes, particularly in hypersensitivity pneumonitis. Other causes are detected in pneumonia and bronchiolitis obliterans.
Crackles that are heard during the inspiratory phase.
Crackles that appear at the beginning of inspiration and end before mid-inspiration.
Early inspiratory crackles may be observed, for example, in chronic obstructive pulmonary disease (COPD). Crackles in COPD patients are scanty, gravity-independent, usually audible at the mouth, and strongly associated with severe airway obstruction. Crackles start early in inspiration and usually end before the midpoint of inspiration.
Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.
Late inspiratory crackles may be observed, for example, in diffuse parenchymal lung disease (DPLD). Crackles are commonly seen in patients with IPF/usual interstitial pneumonia (UIP), asbestosis, and desquamative interstitial pneumonia (DIP).
Crackles are predominantly inspiratory in nature, but can also occur during expiration. It has been described in COPD, bronchiectasis, and IPF. One theory of the pathogenesis of expritory crackles states that some airways collapse during early expiration and air trapping develops. As expiration progresses, the pressure in the trapped region gradually increase, leading to a widened pressure difference across the airways. Once this pressure difference reaches the critical opening pressure, the airway pops open during expiration, producing crackles.
An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles
Pink urine color may indicate blood or be a consequence of the ingestion of certain food such as beets, blackberries and rhubarb.
A sensation of itching in the vulvar region.
Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.
In most cases of hemidystonia, a contralateral structural lesion of the basal ganglia or thalamus can be demonstrated by neuroimaging. Common aetiologies include stroke and trauma, and younger patients seem to have a greater propensity to develop hemidystonia after cerebral insults. There is often a latency between cerebral injury and the onset of dystonia. Hemidystonia may be preceded by ipsilateral hemiparesis which often resolves as hemidystonia develops.
An unintentional, oscillating to-and-fro muscle movement affecting the lip.
A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.
The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.
Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.
Typically infantile constant exotropia suggests presentation at 6 months of age or younger, while basic constant exotropia suggests later presentation (older than 6-12 months). (OHO 745 & 750).
Constant exotropia for near and distance, presenting after 6 months of age.
Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.
In contrast to heterophoria, heterotropias are manifest deviations. Some individuals may be phoric in one situation (e.g. for distance) and tropic in another (e.g. for near). The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia.
Manifest deviation of the visual axes not controlled by fusion.
The distinction between heterotropia and heterophoria is that heterotropia refers to a misalignment of the eyes when the affected individual is looking at an object while the eyes are uncovered whereas heterophoria is a misalignment that is observed only when the two eyes are no longer looking at the same object. The monocular cover-uncover test is the most important test for detecting the presence of manifest strabismus and for differentiating a heterophoria from a heterotropia.
Overshoot of horizontal (sideways) saccadic eye movements.
Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.
Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.
Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.
An increased proportion of eosinophils in sputum in the differentiated cell count.
Sputum eosinophilia can be measured in various ways including measuing the mean percentage of eosinophils in the cell count of sputum induced by application of saline. The threshold chosen differs between studies, typically ranging from 1.25 to 3 percent. Increased sputum eosinophil counts may indicate a risk for severe chronic obstructive pulmonary disease or severe asthma.
A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.
Mononeuritis multiplex can be a manifestation of several disorders including infectious, inflammatory, neoplastic, toxic, metabolic and hereditary conditions.
Eosinophil infiltration of skeletal muscle.
Eosinophilic infiltration of skeletal muscle
This phenotype can be measured by determining the number and location of eosinophils in skeletal muscle biopsies by Giemsa and modified hematoxylin/eosin staining. However, infiltrating eosinophils are not always identified in conventional muscle histologic examination, but the eosinophil major basic protein, whose extracellular diffusion is considered a hallmark of eosinophilic cytotoxicity, is usually detected by immunostaining in muscle biopsy.
Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.
Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.
Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.
Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.
An erosion of the mucous membrane of in a portion of the ileum.
A reduced concentration of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesised and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.
Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.
Anetoderma is a skin disorder characterized by focal loss of dermal elastic tissue. Clinically, it can present as various types of flaccid skin, such as protruding (raised), indented (depressed), or flat.
Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.
Yellow, white or greyish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.
Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.
Laxity of the tendon stabilising the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearence of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.
Laxity of the tendon stabilising the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.
Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distruction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.
Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilising structures (e.g. lower lid retractors) or tarsal atrophy are often present.
Abnormally lax upper eyelid associated with tissue relaxation.
Abnormally lax lower eyelid associated with tissue relaxation.
An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast fur seeing a target.
Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation).
A visual acuity of 6/6 signifies that a person can see symbols such as those on a Snellen chart from six meters the same as a person with normal eyesight. A visual acuity of 6/12 signifies that the person can see symbols at 6 meters the same as a person with normal eyesight could at 12 meters.
An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.
A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.
In severe conditions, polyps turn hemorrhagic and emerge as blood blisters on vocal cords. This occurs when collision forces, generated during the oscillatory cycle of phonation, cause microtrauma within the basement membrane of epithelium and the superficial layer of the lamina propria. Consequently, oscillation of vocal folds leads to neovascularization and hemorrhagic events within the damaged tissue. Depending on the size, position, and type of polyps, abnormal voice qualities including hoarseness, harshness, and breathiness would be different. The size of polyps varies from small to large masses, and a criterion to distinguish polyps from nodules is defined as mass bigger than 0.3 mm whereby bigger masses could be classified as polyps.
A reduction in the ability to maintain sustained attention characterized by reduced altertness.
Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.
A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.
Focal cortical dysplasia is one of the most common entities associated with refractory epilepsy, especially in childhood.
A type of focal cortical dysplasia that is characterized by abnormal cortical layering.
A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.
A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.
A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.
A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.
A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.
There are no balloon cells present (to be confirmed by immunohistochemistry). Discrimination of individual cortical layers is almost impossible (with the exception of Layer 1). Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter.
A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.
Cortical lamination is frequently disrupted with the exception of Layer 1. The myelin content may also be altered in underlying subcortical white matter. Other cortical layer abnormalities are frequently encountered and should not be separately classified, including abnormal isocortical layer organization adjacent to the main lesion, as well as heterotopic neurons in Layer 1 or white matter. Histopathologically similar lesions are observed in cortical tubers and other gross MCDs, i.e. hemimegalencephaly or schizencephaly.
A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.
A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organisation (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (HS, syn. Ammon's horn sclerosis).
A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.
This type of focal cortical dysplasia is associated with glial or glioneuronal tumors (Ganglioglioma, Dysembryoplastic Neuroepithelial Tumor (DNT, syn. DNET) or other epilepsy-associated neoplasms. It is important to exclude tumor infiltration in areas of cortical abnormalities before establishing the diagnosis of FCD. The etiology and pathogenesis of FCD Type IIIb remains to be determined, but is likely an acquired process.
A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).
A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.
A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.
Mild malformation of cortical development
A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.
Angiolymphoid hyperplasia with eosinophilia
Epithelioid hemangioma is most common in middle-aged adults.
A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter).
Vomiting-induced mucosal laceration at the esophago-gastric junction.
Abnormal accumulation of fluid in or around the ankle joint.
Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.
Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.
Bicarbonate represents the second largest category of anions in plasma. The measurement of bicarbonate also captures carbonate (CO3[-2]) ions, carbon dioxide in solution, and carbamino compounds but the latter represent a tiny fraction of the total measured amount.
Abnormal serum bicarbonate concentration
An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.
Decreased serum bicarbonate concentration
An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.
Elevated serum bicarbonate concentration
An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate condictions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinaliysis.
The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.
The autoimmune thyroid diseases (AITD), Graves' disease (GD) and Hashimoto's thyroiditis (HT) are most common endocrine disorders in humans. Both disorders are characterized by lymphocytic infiltration of the thyroid gland and the production of autoantibodies (aAb) against proteins that are thyroid-specific or expressed predominantly in the thyroid. The three main autoantigens are thyroperoxidase (TPO), thyroglobulin (Tg), and thyrotropin hormone receptor.
Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.
Contrast material enhancement for cross-sectional imaging in computed tomography and magnetic resonance imaging can be related to intravascular (vascular) enhancement and interstitial (extravascular) enhancement.
The presence of eosinophils in the lungs as detected by bronchoalveolar lavage or tissue biopsy, with or without blood eosinophilia.
A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.
Popliteal synovial cysts, also known as Baker's cysts, are commonly found in association with intraarticular knee disorders, such as osteoarthritis and meniscus tears. Histologically, the cyst walls resemble synovial tissue with fibrosis, and chronic nonspecific inflammation may be present. Osteocartilaginous loose bodies may also be found within the cyst, even if they are not seen in the knee joint. Baker cysts can be a source of posterior knee pain that persists despite surgical treatment of the intraarticular lesion, and they are routinely discovered on magnetic resonance imaging scans of the symptomatic knee. Symptoms related to a popliteal cyst origin are infrequent and may be related to size.
Aplasia, that is failure to develop, of the fallopian tube.
Fusion of the pancreatic tail and spleen.
Abnormal male urethral meatus morphology
An abnormal narrowing of the urethral opening (meatus) of the penis.
If the sex is not indicated, meatal stenosis is generally taken to refer to males, and thus we list this term as an exact synonym.
A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).
In some cases an ASP can grow into an inconspicuous brachydactyly after physeal closure.
Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.
A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.
Intralamellar mucoid extracellular matrix accumulation
A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.
Translamellar mucoid extracellular matrix accumulation
Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.
A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.
A healthy aorta has dense elastic fibers comprising each lamella. This term describes the elastic network as being thinned at each lamella with narrower and more frayed apart elastic fibers. This entity may be associated with an increase in extracellular matrix material in the lamellar unit. The use of an elastic stain is essential to identify this lesion.
Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.
This rarer process is distinct from fragmentation and loss as the fibers acquire a more haphazard, poorly organized appearance, with loss of the usual parallel/concentric arrangement of elastic fibers within the lamellar unit. This finding is noticeable when at high power, and the orientation of the lamellar units parallel to the aortic lumen is lost. The use of an elastic stain is essential to identify this lesion. Disorganization of elastic fibers can be seen in conjunction with smooth muscle cell disorganization. A poorly oriented aortic specimen may appear to have disorganization and should not be confused with the real entity. This rarer entity should be commented upon, when present as it represents a more severe feature of medial degeneration, but is not essential for routine surgical pathology reporting.
A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.
Smooth muscle cell nuclei loss replaces terms such as medionecrosis and smooth muscle cell necrosis that implied a loss of smooth muscle cells. While the loss of a nucleus suggests the loss of the entire cell, this is not easily appreciated on an hematoxylin and eosin stain stain. The shorter term smooth muscle cell loss was also considered by the consensus group and had many proponents, but the addition of nuclei was ultimately favored by the majority mostly as a histologic definition. Smooth muscle cell nuclei can be lost in patches or can be lost in a band-like pattern. This lesion can be noted in the absence of laminar medial collapse, described below. Both stains highlighting collagen and SMA immunohistochemistry can be used to highlight smooth muscle cell changes.
Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.
Laminar medial collapse replaces the old term laminar medial necrosis and is to be used only when an elastic stain has demonstrated elastic fiber compaction. Laminar medial collapse appears as a darker band on an elastic stain as a result of a significant loss of intermixed smooth muscle cells.
Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.
Aortic smooth muscle cell disorganization
An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).
A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.
A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.
Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.
Common causes of left ventricular outflow tract (LVOT) obstruction include subaortic stenosis, bicupsid aortic valve, supravalvar aortic stenosis, coarctation of the aorta, and hypertrophic cardiomyopathy. Note that we reserve this term to describe the physiological abnormality, and denote the morphological abnormalities that lead to LVOT obstruction in the corresponding Morphology sections of the HPO.
Left ventricular outflow tract obstruction
An increased concentration of a surfactant protein in the blood circulation.
Increased serum surfactant protein level
Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Increased levels of serum SP-A, SP-B, SP-C and SP-D may reflect lung damage.
Increased circulating surfactant protein level
A deviation from the normal range of manganese in the blood circulation.
An elevation above the normal concentration of manganese in the blood.
A reduction below the normal concentration of manganese in the blood.
The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).
The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.
A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystisjirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.
Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.
Wilson sign may be indicative of medial femoral osteochondritis dissecans. Wilson postulated that impingement of the tibial eminence on the osteochondritic lesion caused pain and a resultant compensatory lateral rotation during gait.
An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.
A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixatrion position and show a crescendo-decrescendo pattern.
Macrosaccadic oscillation is usually observed in acute damage to the dorsal cerebellum involving the deep cerebellar nuclei, as in demyelination, tumour or haematoma.
Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.
A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.
The corneal epithelium covers the corneal surface and plays a major role in protection and transparency. Epithelial cells are shed regularly and replaced by stem cell sources located at the limbus, a rim of tissue located at the junction of the cornea and sclera. The limbal epithelial stem cells reside in specific regions at the limbus known as the limbal stem cell niches. Damage to the stem cells or disruption of the niches may lead to Limbal Stem Cell Deficiency. In the absence of a healthy corneal epithelium, the conjunctiva proliferates over the cornea resulting in opacification and vascularization, which in turn may lead to reduced vision, pain, and photophobia.
A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.
A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.
Moderate reduction in contrast sensitivity
A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.
An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.
Abnormal Vistech contrast sensitivity test
An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.
Abnormal Pelli Robson contrast sensitivity chart test
A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in the heterozygotes and homozygotes, with differing phenotype severity present dependent on the number of alleles affected.
Familial hypercholesterolemia is an example of a disease with this inheritance pattern.
An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.
Horizontal 10-40 degree excursions from fixation and back again.
Series of hypermetric saccades attempting to narrow in on the target (ocular past-pointing).
Note that the term Chorioretinitis suggests that the origin of the process is predominantly in the choroid while Retinitis suggests that the process is mainly in the retina.
A type of glaucomatous optic neuropathy occuring in the presence of a narrow anterior chamber angle.
Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.
Abnormal peripheral nervous system physiology
An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.
A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).
Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).
A deviation of the normal proportion of non-class-switched memory B cells in circulation relative to the total number of B cells.
Abnormal proportion of non-class-switched memory B cells
An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.
Increased proportion of non-class-switched memory B cells
A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.
Decreased proportion of non-class-switched memory B cells
A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.
Differentiation of B cells into plasmablasts (PB) is most commonly monitored with surface markers CD19, CD20, CD27, CD38, and CD138 and intracellular marker Ki-67.
An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.
A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.
Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.
Mycobacterium abscessus abscessus infection
Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.
A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Reductions in total IgG levels in adolescents or adults may be classified as mild-moderate (300-600 mg/dL), significant (100-299 mg/dL), or profoundly reduced (less than 100 mg/dL). In adolescents and adults, a total immunoglobulin (IgG + IgM + IgA) level greater than 600 mg/dL, with confirmed normal antibody responses, probably excludes humoral deficiency. Total immunoglobulin levels of 400 to 600 mg/dL or IgG levels of 200 to 400 mg/dL may contain adequate amounts of antibody; this becomes less likely if total immunoglobulin levels are less than 400 mg/dL or serum IgG levels are less than 200 mg/dL.
A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
Transient decreased circulating total IgG
A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.
A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.
IgG subclass deficiency is defined as a reduction in 1 or more subclasses of IgG (IgG1 and IgG2 in particular) by more than 2 SDs below the mean for age-matched controls. Deficiencies in IgG1 or IgG2 are more likely to cause low serum IgG levels because these are the major components. IgG1 levels stabilize by the age of 5 years; however, adult levels of IgG2, IgG3, and IgG4 may not be achieved until adolescence. Thus, the interpretation of subclass levels is additionally problematic because levels of each subclass increase at different rates during development.
Decreased circulating IgG subclass level
A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.
A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.
A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.
Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
Decreased natural antibody to blood group agents
The determination of isohemagglutinins can be used to evaluate an individual's ability to mount an immune response except in persons with blood group AB.
A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
Decreased specific antibody response to vaccination
A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.
Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.
An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.
This term implies that there is no obvious oral mucosal lesion causing the pain.
Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.
Wasting of the sural nerve, a sensory nerve in the calf region of the leg.
Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.
Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.
Warmth, ambulation, physical exercise, sitting, leg dependence and wearing shoes or gloves can provoke and aggravate symptoms while immersion in ice/cold water, uncovering affected areas, ventilation and elevation can ameliorate these symptoms. Pain attacks usually start with an itchy-like feeling and then progress to a severe burning sensation as was reported by most patients, with the durations of which ranging from several minutes to hours and even days. Erythromelalgia can be a Mendelian trait or can be triggered by polycythemia vera, lymphoproliferative disorders, hypertension, and hyperviscosity.
Intermittant pain, i.e., pain that occurs occasionally and at irregular intervals.
A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.
Excruciating burning pain in the rectal area that may be triggered by defecation.
Recurrent episodes of marked eosinophilia that resolve spontaneously.
An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.
Keratosis pilaris is characterized by keratinisation of the hair follicles of the skin.
Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.
Loss of sections of skin either spontaneously or after gentle handling.
Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.
An unusual infection classified by the affected body part.
An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.
A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.
Cryptococcus yeasts are ubiquitous in the environment and are acquired by inhalation. In the immunocompromised host, reactivation of latent disease is believed to be responsible for the subsequent development of cryptococcal disease. For instance, in persons with depletion of CD4+ T cells, the ability of the immune response to adequately contain cryptococcal infection is impaired.
A type of fungal meningitis caused by dissemination of coccidioides to to basilar meninges.
Coccidioides species are soil-dwelling fungi that are the causative pathogen of coccidioidomycosis, also known as Valley fever. Infection occurs from inhalation of fungal spores that become airborne from soil in endemic regions. Sixty percent of infections are asymptomatic. The rate of dissemination from primary infection to extrapulomonary sites is higher in immune-compromised individuals. A common site of dissemination is to the basilar meninges, resulting in coccidioidal meningitis.
A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.
Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.
An elevated circulating concentration of folic acid, which is also known as vitamin B9.
Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees.
Histologically, placental mesenchymal dysplas (PMD) shows enlarged edematous stem villi with dilated vessels and absent trophoblastic proliferation. Cisterns may be seen within stem villi. The vessels are thick walled, with fibromuscular hyperplasia. Terminal villi are usually normal. The edematous stem villous stroma stains for Alcian blue, but is negative for smooth muscle actin, which shows positive staining of normal villous stroma. Staining for desmin and vimentin is retained in PMD, similarly to normal villous stroma.
An infection of the small intestine (enteritis) by clostridium difficile.
Clostridium difficile (C. difficile) is a common nosocomial infection caused by a gram-negative spore forming organism that most commonly leads to pseudomembranous colitis. Certain individuals are able to mount an effective immunoglobulin G response against C. difficile toxin A. This humoral immune response against the C. difficile toxin is believed to allow an individual to become an asymptomatic carrier. In contrast, people who fail to mount an immune response to C. difficile toxin are susceptible to infection. In general, patients on immunosuppressive therapy have a blunted ability to mount immune responses and, therefore, may be at greater risk for infection.
An infection of the colon (colitis) by clostridium difficile.
A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.
An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.
Varicella-zoster virus (VZV) is one of eight herpes viruses known to cause human infection and is distributed worldwide. Varicella zoster infections are considered to be mild and ubiquitous infections predominantly affecting the paediatric population. However, in adults and in specific groups of patients, such as those who are immunosuppressed, varicella infections can be fulminant and life threatening.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.
A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.
The air crescent sign is said to be characteristic of invasive pulmonary aspergillosis, but it can also be seen in cavitating neoplasms, lung abscesses, and infections. This sign is considered a good marker of immune activity as it is seen when the necrotic tissue gets invaded by leukocytes and replaced by air in invasive pulmonary aspergillosis. Other conditions in which air crescent sign can be seen are pulmonary gangrene, pulmonary hematoma, Rasmussen aneurysm in a tuberculous cavity, and lung hydatid.
This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.
Normally, the central part of the diaphragm is obscured by the heart, and hence is not seen on chest radiographs. Though this sign is commonly seen in pneumomediastinum, it can occasionally be also seen in pneumopericardium. This sign when seen, is a differential tool between pneumomediastinum and pneumothorax.
The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).
This pattern is most pronounced in the lung periphery and is usually associated with abnormalities of the larger airways. It is particularly common in diffuse panbronchiolitis, endobronchial spread of mycobacterial infection, and cystic fibrosis. A similar pattern is a rare manifestation of arteriolar (microangiopathic) disease.
This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.
An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.
The usual appearance is of homogeneous soft-tissue attenuation capping the extreme lung apex (uni- or bilaterally), with a sharp or irregular lower border (See Figure 6 of PMID:18195376). Thickness is variable, ranging up to about 30 mm. An apical cap occasionally mimics apical consolidation on transverse CT scans.
Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).
In radiographs and CT scans, consolidation appears as a homogeneous increase in pulmonary parenchymal attenuation that obscures the margins of vessels and airway walls (See Figure 19 of PMID:18195376). An air bronchogram may be present. The attenuation characteristics of consolidated lung are only rarely helpful in differential diagnosis (eg, decreased attenuation in lipoid pneumonia and increased in amiodarone toxicity).
A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).
Flaky paint dermatosis is a cutaneous manifestations of kwashiorkor.
An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.
Any increase or decrease in the globulin fraction should be evaluated by serum electrophoresis. The alpha1 fraction consists mainly of alpha1 antitrypsin, which is an acute phase reactant that goes up in acute inflammation. The alpha1 fraction is reduced in congenital alpha1 antitrypsin deficiency. The alpha2 region consists mainly of alpha2 macroglobulin and haptoglobin. The major beta globulin is transferring. Elevations can occur in severe iron deficiency.
An abnormal level of an analyte measured in the blood.
Abnormal circulating metabolite concentration
An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.
Anomalous hepatic venous drainage into the left atrium
An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.
An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.
An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.
The presense of molluscum contagiosum lesions across multiple areas of the body.
Molluscum contagiosum (MC) are very common cutaneous warts caused by molluscum contagiosum virus (MCV), a double-stranded DNA virus of the poxvirus family. The typical clinical presentation consists of small, umbilicated, skin-coloured, pearly papules with predilection of the trunk, axillae, antecubital and popliteal fossae and genital area. Incidence first peaks in pre-school children. In immunocompetent individuals, lesions usually clear spontaneously within several months or years.
A benign or malignant neoplasm that affects the anal canal or anal margin.
Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.
Risk factors for AIN and anal cancer consist of clinical factors and behaviors that are associated with the acquisition and persistence of human papilloma virus (HPV) infection. Anal cancer is defined as cancer arising from the squamous epithelium of the anus, making it distinct from colorectal cancer. The anal canal consists of stratified squamous epithelium originating outside the body and extending into the anus up to the dentate line, the point where it intersects the columnar epithelium of the rectum. Thus, the vast majority of anal cancer is squamous cell carcinoma (SCC), with a small minority consisting of adenocarcinoma or skin cancer variants. Anal cancer is preceded by intraepithelial neoplasia, a premalignant lesion.
An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.
Cellular hypersensitivity to mitomycin C is used in diagnostic criteria for Fanconi Anemia.
Cellular hypersensitivity to mitomycin C
An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.
Cellular hypersensitivity to diepoxybutane is used in diagnostic criteria for Fanconi Anemia.
Cellular hypersensitivity to diepoxybutane
Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.
The meniscus is a fibrocartilaginous structure of the knee joint that enables the even distribution of a weight-bearing load across the articular surfaces. The menisci bear between 40 to 70% of the load across the knee, and the rest of the load is transmitted directly to the articular cartilage.
A tear in the cartilaginous pad (meniscus) of the knee.
Not all meniscal injuries require surgery. Some of them have the ability to heal. The meniscal tear pattern and the presence of adequate vascularity are both key points. Tears within 3 mm of the meniscosynovial junction usually have an adequate blood supply that allows healing. Tears of 5 mm or more from this junction are considered avascular and need surgical intervention.
Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.
The hydatidiform mole (HM) is a placental pathology of androgenetic origin. Placental villi have an abnormal hyperproliferation event and hydropic degeneration. Three situations can be envisaged at its origin: 1. The destruction/expulsion of the female pronucleus at the time of fertilization by 1 or 2 spermatozoa with the former being followed by an endoreplication of the male pronucleus leading to a complete hydatidiform mole (CHM) 2. A triploid zygote (fertilization by 2 spermatozoa) leading to a partial hydatidiform mole (PHM) but can also lead to haploid and diploid clones. The diploid clone may produce a normal fetus while the haploid clone after endoreplication generates a CHM 3. A nutritional defect during the differentiation of the oocytes or the deterioration of the limited oxygen pressure during the first trimester of gestation may lead to the formation of a HM.
An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.
Elevated levels of low-density lipoprotein (LDL) cholesterol are associated with an increased risk of developing coronary artery disease. LDL particles are the major cholesterol-carrying lipoproteins in the blood circulation, consisting of a hydrophobic core of cholesterol esters and triglycerides surrounded by phospholipds, free cholesterol, and one molecule of apolipoprotein B-100 on the surface of the molecule. The LDL particle population is heterogeneous with the respect to size, density and composition. Distinct subpopulations vary in isoelectric point, electrical charge, hydrodynamic properties and immunoreactivity.
Decreased low-density lipoprotein particle size
Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.
Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.
Abnormal depth of the S wave in lead V5 of the electrocardiogram.
The S wave refers to the negative deflection after an R wave within the QRS complex. This term refers to an abnormally deep (negative) deflection of the S wave in lead V5.
Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
Decreased international normalized ratio
Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.
The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.
The rotator cuff comprises four muscles (supraspinatus, infraspinatus, teres minor, and subscapularis) which attach close to the humeral head via tendons and are critically involved in stability and function of the shoulder. A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.
Rotator cuff tears can be cuased by injury, overuse, or other causes and may be associated with pain and swelling of the shoulder.
Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognised: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.
Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).
The presence of LNH in the mucosa of the colon and/or terminal ileum is a frequent finding (30%) in children undergoing colonoscopy. Unless associated with other endoscopic lesions, LNH is mostly related to a condition of delayed-type food hypersensitivity and affects mainly preschool or school-age children with hematochezia.
Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.
The mechanisms by which an EBV infection becomes chronic active are likely to be heterogenous and may involve host immune factors, viral factors, or both.
Chronic active Epstein-Barr virus infection
Galectin-3 is a member of the family of beta-galactoside-binding endogenous lectins. It is a multifunctional factor that binds to distinct ligands and tiggers production of matrix metalloproteinases, and thereby plays a role in cardiac fibrosis and remodelling.
An increased circulation of galectin-3 in the blood circulation.
Abnormal cerebrospinal fluid metabolite concentration
An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.
Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine
Telopeptides are tiny protein particles found particularly in type I collagen that include 15-20 amino acids. Telopeptides bound to the ends of these amino acids are removed from the body through the urine as a result of collagen metabolism. During resorption, amino and carboxyl terminal fragments, called telopeptides, are bound to collagens with cross links and can be released into the circulation and excreted in the urine. Some recent studies have demonstrated that the type 1 collagen N-terminal telopeptide (NTx) level is more specific to bone tissue than any other resorption markers.
Increased urinary type 1 collagen N-terminal telopeptide level
A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.
Abnormal circulating free triiodotyronine concentration
Abnormal circulating free T3 concentration
A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.
An increased number of epithelial cells per high-power field in urinanalysis.
There are three types of epithelial cells that are encountered upon urinalysis, sqamous, renal tubular, and transitional.
An increased number of squamous epithelial cells per high-power field in urinanalysis.
Sqamous epithelial cells may indicate contamination of the urine sample and are a poor predictor of urine culture contamination,
Increased urinary sqamous epithelial cell count
An increased number of renal tubular epithelial cells per high-power field in urinanalysis.
Increased urinary renal tubular epithelial cell count
An increased number of transitional epithelial cells per high-power field in urinanalysis.
Transitional epithelial cells can be found in urinary tract starting from the renal pelvis down the ureters to the bladder and the proximal urethra.
Increased urinary transitional epithelial cell count
Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.
Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.
Lymphocytic infiltration of the colorectal mucosa
A skin nodule that is unusually hard (indurated).
A reduction in the proportion of CD4 T cells relative to the total number of T cells.
An elevation in the proportion of CD4 T cells relative to the total number of T cells.
Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.
The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.
Emperipolesis is derived from the Greek (em-inside; peri-around; polemai-wander about) and is as the active penetration of one cell by another which remains intact. It differs from phagocytosis in that an engulfed cell exists temporarily within another cell and with an intact normal structure while in phagocytosis, the engulfed cell is destroyed by the protective action of lysosomal enzymes.
The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.
Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus sytems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.
At present, there are 34 blood group systems recognized by the International Society for Blood Transfusion.
The ABO system consists of A and B antigens and antibodies against these antigens.
The ABO histo-blood group consists of two antigens (A and B antigens) and four blood types (types A, B, AB, and O). The A and B antigens are the product of the ABO gene and are autosomal codominant. The group O phenotype is an autosomal-recessive phenotype due to the homozygous inheritance of two null ABO alleles. Group O individuals express the H antigen, the biosynthetic precursor to A and B antigens. ABO, therefore, is the blood type, whereas A, B, and H refer to the antigens.
Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.
Multiple Perifollicular fibroma (PFF) lesions have been linked to adenomatous colonic polyps and they may be inherited as an autosomal dominant trait. Most reports have described multiple PFF lesions involving the scalp.
Any structural anomaly of the sebaceous glands.
Sebaceous glands are found all over the human body except on the palms of the hands and soles of the feet. The glands are numerous on the face and scalp and are sparse in areas such as the back. They can number as many as 400-900 glands/cm2 on the face. Sebaceous glands are usually found in association with a hair follicle, which, together, is referred to as a pilosebaceous unit. The sebaceous gland is located in association with the upper portion of the hair follicle, where it is not affected by the hair cycle. Sebaceous glands can be unilobular or multilobular. Although a majority of sebaceous glands are part of a pilosebaceous unit, some glands can be found without an associated hair follicle. Sebaceous glands secrete sebum, which contains cholesterol, cholesteryl esters, squalene, fatty acids, diglycerides and triglycerides, and wax esters.
A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.
A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.
In contrast to trichodiscoma, fibrofolliculoma shows a keratin-plugged and often distorted hair follicle in the center of the lesion. A mantle of mucoid or fibrous stroma surrounds this central follicle; thin epithelial strands emerge from the central follicle and may form a netlike pattern.
The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.
Perinuclear antineutrophil antibody positivity
The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.
Cytoplasmic antineutrophil antibody positivity
A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
An increased concentration of the MB isoform of creatine kinase in the blood circulation.
All CK isoforms are encoded by separate nuclear genes and, in most tissues, a single cytosolic CK isoform is co-expressed together with a single mitochondrial CK isoform (mtCK). Cytosolic muscle-type CK (M-CK) and brain-type CK (B-CK) form homodimers or heterodimers, e.g. MM-CK in skeletal muscle, MM, MB and BB-CK in heart, or BB-CK in brain, kidney, spermatozoa, skin and many other tissues. MtCK is situated in the outer mitochondrial compartment and occurs as sarcomeric mtCK (smtCK) expressed mainly in muscle tissue and as ubiquitous mtCK (umtCK) expressed in a large number of other cells and tissues. CK-MB levels can rise upon myocardial injury, CK-MM rises upon skeletal muscle damage, and CK-BB can rise with brain injury.
Increased circulating creatine kinase MB isoform
An increased concentration of the BB isoform of creatine kinase in the blood circulation.
Increased circulating creatine kinase BB isoform
An increased concentration of the MM isoform of creatine kinase in the blood circulation.
Increased circulating creatine kinase MM isoform
The presence of autoantibodies (immunoglobulins) in the serum that react against the La/Sjogrens syndrome antigen.
Anti-Ro/SSA and anti-La/SSB are considered hallmarks of Sjogrens syndrome and are associated with systemic disease, but are also present in the sera of systemic lupus erythematodes patients. The most common antinuclear antibodies in Sjogren patients are those directed against the autoantigens Ro/SSA and La/SSB. The Ro/La particle is a protein-RNA complex formed by the association of the Ro60, and La/SSB proteins with small cytoplasmic RNA (hyRNA). Anti-Ro/SSA and anti-La/SSB antibodies are detected in 50 to 70 percent of primary Sjogren patients. Anti-Ro/SSA and anti-La/SSB antibodies are correlated with younger age at diagnosis, longer disease duration, more severe dysfunction of the exocrine glands, recurrent parotid gland enlargement and higher intensity of the lymphocytic infiltrates in the minor salivary glands.
An abnormally increased number of immature neutrophils in the peripheral blood circulation.
Various forms of immature neutrophils appear during granulopoiesis in the bone marrow. A seven day mitotic stage (myeloblast to promyelocyte to myelocyte) is followed by a seven day maturation stage (myelocyte to metamyelocyte to band cell to mature segmented neutrophil). Mature neutrophils are normally held in storage pools in the bone marrow before their entry into the circulation.
Increased circulating immature neutrophil count
An abnormally increased number of myelocytes in the peripheral blood circulation. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and seconday granules, and a nucleus:cytoplasm ratio of 2:1.
An abnormally increased number of metamyelocytes in the peripheral blood circulation. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with seconday granules, and a nucleus:cytoplasm ratio of 1.5:1.
Increased circulating metamyelocyte count
An abnormally increased number of band cells in the peripheral blood circulation. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small seconday granules, and a nucleus:cytoplasm ratio of 1:2.
Increased circulating band form neutrophils
An increased concentration of E selectin in the blood circulation.
A tumor (abnormal growth of tissue) of the uterine cervix.
A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.
Any deviation from the normal concentration of a metabolite in a tissue.
Abnormal tissue metabolite concentration
A reduction in the concentration of thromboxane B2 in the blood circulation.
An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.
Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.
Persistent CMV infection has important clinical relevance in the global population. Although immune-mediated control of CMV in healthy individuals prevents disease and overt clinical symptoms, immune dysregulation caused by immunosuppressive treatments in transplant and cancer patients, congenital immunodeficiencies, HIV/AIDS, and/or aging can result in CMV viremia, life threatening disease, and even death.
Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.
Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.
Persons with immunodeficiency diseases, diabetics, transplant recipients, and prisoners are also particularly vulnerable to infection by Coccidioides.
An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.
A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.
Granulomas vary considerably in their degree of complexity, physical size and organization. Not surprisingly, their classification has attracted much attention, and a numbers of schemes have been described. The cornerstone of the granulomatous response, however, is the predominant involvement of mononuclear phagocytes. As granulomas develop, tissue-resident, as well as inflammatory mononuclear phagocytes become intimately acquainted, and these cells may develop highly differentiated epithelioid cell characteristics. In many cases, elegant multinucleate populations can be seen, distinct from the syncytia formed after viral infection as evident by their extended life-span. Accumulating lymphocytes, mainly T cells, contribute to the developing microarchitecture of the granuloma, often with characteristic patterns of subset organization relative to the core of mononuclear phagocytes and to each other. B lymphocytes, plasma cells, NK cells and neutrophils may all be present, though a relative paucity of neutrophils delineates these sites of inflammation from those associated with necrosis. At its extreme, the granuloma may serve as the focus for irreversible fibrotic reactions, but, even in less dramatic cases, a substantive degree of local tissue remodelling occurs.
A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.
Eosinophilic granuloma (EG) is a benign disorder that affects children and young adults, particularly males. Solitary EG accounts for the majority of Langerhans cell histiocytosis cases, usually involving bone and less commonly the lymph nodes, lung or skin.
An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.
Increased circulating copper concentration
An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.
Most patients exhibit pulmonary signs and symptoms, accompanied by radiographic abnormalities, which often are mistaken for community-acquired pneumonia caused by bacterial or viral agents. Most of the infected individuals remain asymptomatic or have very mild illness that does not get diagnosed as histoplasmosis. Significant symptoms develop in less than 1% of patients and most frequently present as pulmonary or disseminated histoplasmosis. Immunocompromised individuals, including patients with AIDS, hematologic malignancies, transplant recipients, and patients receiving prolonged steroids, are at higher risk of developing acute disseminated disease with a rapid and aggressive course.
Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.
Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.
The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.
Tinea is usually followed by a Latin term that designates the involved site, such as tinea corporis and tinea pedis. Tinea versicolor (now called pityriasis versicolor) is not caused by dermatophytes but rather by yeasts of the genus Malassezia. Tinea unguium is more commonly known as onychomycosis. Dermatophytes are usually limited to involvement of hair, nails, and stratum corneum, which are inhospitable to other infectious agents. Dermatophytes include three genera: Trichophyton, Microsporum, and Epidermophyton.
An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.
An infection of the lung caused by environmental mycobacteria. SUch infections can occur in individuals with predisposing lung disease or immune disease.
Historically, human infections due to Mycobacterium were due almost exclusively to Mycobacterium tuberculosis (TB); the extensive societal impact of this infection is legendary. More recently, other species of mycobacterium causing clinical disease have been identified and, in many geographical regions, cause greater disease burden than TB. These organisms are referred to by a variety of collective names such as anonymous or atypical mycobacteria, mycobacteria other than tuberculosis (MOTT) and nontuberculous mycobacteria (NTM).
Nontuberculous mycobacterial pulmonary infection
A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.
Predisposing factors include poverty, social disruption, malnutrition, different causes of immune suppression, human immunodeficiency virus (HIV) infection, HIV-TB co-infection and increasing drug resistance.
Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.
The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.
Presence of anti-N-methyl-D-aspartate Receptor antibody in blood
Presence of anti-NMDAR antibody in blood
The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.
Cerebrospinal fluid autoimmune antibody positivity
The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.
Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF
Presence of anti-NMDAR antibody in cerebrospinal fluid
CSF anti-NMDA receptor antibody positivity
This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.
The use of multislice contrast-enhanced CT scan, with reconstructions into thinner slices in different planes, markedly improves the yield. The sign may not be seen in the early stage (less than 5 days) of thrombosis, as the fresh clot is hyperdense, or in the late stage (after more than 2 months), as numerous channels of recanalization develop in the thrombus after 2 months.
This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.
This sign has been traditionally considered as highly specific for meningioma. However, it is seen only in 60% of meningiomas and has also been reported in nonmeningiomatous lesions such as chloromas, primary CNS lymphomas, sarcoidosis, schwannomas, metastases, and syphilitic gummata.
This sign represents the loss of the normal convex contour of the frontal bones, with flattening or inward scalloping, seen on a transverse fetal sonogram obtained at the biparietal diameter level. It has a strong association with spina bifida and is very useful for detecting this condition before 24 weeks of gestation in high-risk patients. It has high sensitivity and specificity. The lemon sign may disappear as gestational age advances and hence it is less reliable after 24 weeks. The sign is not specific for spina bifida and has also been seen in encephalocele, Dandy-Walker malformation with encephalocele, thanatophoric dysplasia, cystic hygroma, diaphragmatic hernia, corpus callosal agenesis, hydronephrosis, and umbilical vein varix.
A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.
A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.
Extrapulmonary involvement can be seen in patients with concurrent AIDS and tuberculosis. The risk of extrapulmonary tuberculosis and mycobacteremia increases with advancing immunosuppression.
Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry.
Although NAA concentration is also elevated in the blood and cerebrospinal fluid (CSF) of children with neonatal/infantile (severe) Canavan disease, elevated concentration of NAA in urine is sufficient for diagnosis of affected individuals.
Elevated urinary N-acetylaspartic acid level
An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation.
Increased circulating N-acetyl aspartate level
Increased circulating N-acetyl aspartic acid level
Increased circulating N-acetyl-L-aspartic acid level
Increased circulating N-acetylaspartate level
Increased circulating N-Acetylaspartic acid concentration
An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF).
Increased N-acetyl aspartate levels in CSF
Increased N-acetyl aspartic acid levels in CSF
Increased N-acetyl-L-aspartic acid levels in CSF
Increased N-acetylaspartate levels in CSF
Increased CSF N-Acetylaspartic acid concentration
Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.
Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.
This pad normally protects the foot against the forces to which it is exposed during the ground contact phase of each step.
An ovoid depression of the tissue that immediately surrounds the umbilicus, resulting in a lozenge-shaped depression encircling a slightly prominent (protruding) umbilicus.
An increase in the level of 2-hydroxyglutaric acid in the urine.
2-hydroxyglutaric aciduria can cause causes progressive cerebral damage.
Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).
The base excess increases in metabolic alkalosis and decreases in metabolic acidosis, but its utility in interpreting blood gas results is controversial. The term base excess is used in clinical practice, but the available blood gas devices calculate either the standard base excess, also called the base excess of the extracellular fluid, or the base excess of blood. Base deficit is calculated as the base excess times minus one.
An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.
An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.
Disseminated nontuberculous mycobacterial infection
Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).
Ultra-low vision with retained motion projection
Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.
Ultra-low vision with retained light projection
Ultra-low vision but with retained ability to perceive the difference between light and dark.
Ultra-low vision with retained light perception
Ultra-low vision with complete lack of light and form perception.
Ultra-low vision with no light perception
An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.
An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
Oligoclonal elevation of circulating IgG
An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant. In contrast, polyclonal gammopathies may be caused by any reactive or inflammatory process, and they usually are associated with nonmalignant conditions.
A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.
A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.
Each monomeric IgG antibody consists of four chains: two heavy chains, providing class specificity, and two light chains, kappa or lambda.
A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.
A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.
A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.
Monoclonal elevation of IgG lambda chain
An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subtypes.
The four subclasses, IgG1, IgG2, IgG3, and IgG4, which are highly conserved, differ in their constant region, particularly in their hinges and upper CH2 domains. These regions are involved in binding to both IgG-Fc receptors (Fc-gammaR) and C1q. As a result, the different subclasses have different effector functions,
An abnormally increased concentration of the IgG3 subtype in the blood circulation.
IgG3 antibodies are particularly effective in the induction of effector functions.
An abnormally increased concentration of the IgG1 subtype in the blood circulation.
Antibody responses to soluble protein antigens and membrane proteins primarily induce IgG1, but are accompanied with lower levels of the other subclasses, mostly IgG3 and IgG4. Because IgG1 is normally the most abundant subclass, a lack of IgG1 seen in a variety of primary and secondary antibody deficiencies, can result in decreased total IgG levels (hypogammaglobulinemia). IgG1 deficiencies, sometimes in combination with other IgG subclass deficiencies, are associated with recurrent infections.
An abnormally increased concentration of the IgG2 subtype in the blood circulation.
Immunoglobulin G-antibody responses to bacterial capsular polysaccharide antigens can be almost completely restricted to IgG2.
An abnormally increased concentration of the IgG4 subtype in the blood circulation.
Allergens are often good inducers of IgG1 and IgG4, in addition to IgE. IgG4 antibodies are often formed following repeated or long-term exposure to antigen in a non-infectious setting and may become the dominant subclass.
Warts affecting the skin in the genital area (peniile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pdenuculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.
Genital warts are the clinical manifestations of a sexually transmitted disease caused by some types of human papillomavirus (HPV).
The presence of free monoclonal kappa immunoglobulin light chains in the urine.
The presence of free monoclonal lambda immunoglobulin light chains in the urine.
Any deviation from the normal concentration of mannose-binding protein in the blood circulation.
Mannose-binding protein is encoded by the MBL2 gene. It is a calcium-dependent lectin involved in innate immune defense and that binds mannose, fucose and N-acetylglucosamine on different microorganisms and activates the lectin complement pathway.
An abnormal reduction below the normal concentration of mannose-binding protein in the blood circulation.
An abnormal elevation above the normal concentration of mannose-binding protein in the blood circulation.
An elevated concentration of procalcitonin in the blood circulation.
Procalcitonin is a 116 amino acid peptide that has an approximate MW of 14.5 kDa and belongs to the calcitonin (CT) superfamily of peptides. It can be divided into 3 sections including the amino terminus of the PCT region, immature calcitonin, and calcitonin carboxyl-terminus peptide-1 (CCP-1). Procalcitonin is encoded by CALC-1 gene located on chromosome 11. Cleavage in 1 site of the primary transcript of CALC-1 gene produces pre-PCT, which further undergoes proteolytic cleavage of its signal sequence to produce PCT. The synthesized PCT then undergoes post-translational processing to produce small peptides and mature CT. PCT is a biomarker that exhibits greater specificity than other proinflammatory markers (eg, cytokines) in identifying patients with sepsis and can be used in the diagnosis of bacterial infections. The short half-life (25-30 hours in plasma) of PCT, coupled with its virtual absence in health and specificity for bacterial infections, gives it a clear advantage over the other markers of bacterial infection.
Increased circulating procalcitonin level
Any deviation from the normal cell count per volume of granulocytes in the blood circulation.
Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells.
An increased count of granulocytes in the peripheral blood circulation.
An abnormally elevated concentration of globulins in the blood.
An abnormally reduced concentration of globulins in the blood.
Excessive, increased hair growth located in the region of the forehead and temple.
An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.
The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.
Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.
This subontology is intended to help record summary information about family members if only a limited amount of information is available or required.
A close blood relative had heart disease.
Health status of a family member with respect to the disease being investigated in a proband.
This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).
This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.
No history of any serious disease, including the disease being investigated in the proband.
Episodic fever that recurs at regular intervals.
Episodic fever that recurs at irregular intervals.
A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.
Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.
Methicillin-resistant Staphylococcus aureus infection
Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.
Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.
An abnormally elevated concentration of 11-deoxycortisol in the urine.
Increased urinary 11-Deoxycortisol is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
Increased urinary 11-deoxycortisol level
An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.
Increased urinary 11-deoxycorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
Increased urinary 11-deoxycorticosterone level
An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.
Increased urinary 11-deoxytetrahydrocorticosterone is associated with congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency.
Increased urinary 11-deoxytetrahydrocorticosterone level
An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.
Oligoclonal elevation of circulating IgM
A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.
An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
Oligoclonal elevation of circulating IgA
An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
Increased circulating specific IgE antibody
An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.
Oligoclonal elevation of circulating IgE
A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.
An abnormal spirometry test result. In this test, the individual being tested exhales into a tube connected to a machine called a spirometer, which measures the volume of air expired against time. Patients are asked to take a maximal inspiration and then to forcefully expel air for as long and as quickly as possible.
An abnormal reduction in the amount of air a person can expel following maximal insipiration.
The threshold for an abnormally low FVC is defined as less than the LLN for adults or less than 80 percent of predicted for those five to 18 years of age, indicating a restrictive pattern. The LLLN (lower limit of normal) is a measurement less than the fifth percentile of spirometry data obtained from the Third National Health and Nutrition Examination Survey (NHANES III).
An abnormal reduction in the amount of air a person can forcefully expel in one second.
Reduced forced expiratory volume in one second
An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.
CA 19-9 is also referred to as sialyl Lewis-a (sLea). It is expressed on the surface of cancer cells as a glycolipid and as an O-linked glycoprotein. Subsequently, CA 19-9 was also identified in the tissue and sera of patients with other gastrointestinal tumors including esophageal, gastric, biliary and pancreatic cancer. CA 19-9 is derived from an aberrant pathway during production of its normal counterpart disialyl Lewis-a which has one extra sialic acid residue attached through a 2-to-6 linkage. Disialyl Lewis-a is normally expressed on the epithelial surface of digestive organs, serves as a ligand for monocytes and macrophages, and helps in immunosurveillance. Epigenetic silencing of the gene for 2-to-6 sialyl transferase during early stages of carcinogenesis leads to abnormal synthesis and accumulation of sialyl Lewis-a (CA 19-9).
Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.
Lichen amyloidosis is mostly associated with severe pruritus. It is a keratin-derived amyloidosis, in which cytokeratins serve as amyloid precursors, affecting only the dermis. Histological findings are grouped colloid bodies, which correspond to apoptotic basal keratinocytes.
A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern.
Two types of keratotic amyloidosis have been identified: macular and lichen amyloidosis, and the latter is more common. In keratotic amyloidosis, keratin depositions originating from basal keratinocyte are mainly CK5 positive.
A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.
A increased concentration of serine in the urine.
A increased concentration of sulfocysteine in the urine.
Increased level of phenylalanine in urine.
A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.
An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.
Decreased pre bronchodilator forced vital capacity
Decreased prebronchodilator forced vital capacity
Decreased pre-bronchodilator forced vital capacity
An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.
Decreased post bronchodilator forced vital capacity
Decreased postbronchodilator forced vital capacity
Decreased post-bronchodilator forced vital capacity
An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.
Decreased post bronchodilator forced expiratory volume in one second
Decreased postbronchodilator forced expiratory volume in one second
Decreased post-bronchodilator forced expiratory volume in one second
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.
Decreased pre bronchodilator forced expiratory flow 25-75%
Decreased prebronchodilator forced expiratory flow 25-75%
Decreased pre-bronchodilator forced expiratory flow 25-75%
A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.
Decreased post bronchodilator forced expiratory flow 25-75%
Decreased postbronchodilator forced expiratory flow 25-75%
Decreased post-bronchodilator forced expiratory flow 25-75%
An abnormally elevated concentration of corticosterone in the blood.
Increased circulating corticosterone level
An abnormally reduced concentration of corticosterone in the blood.
Decreased circulating corticosterone level
An abnormal concentration of an amino acid in the cerebrospinal fluid.
Abnormal cerebrospinal fluid amino acid level
Applied to a sign or symptom that is worsened by ingestion of aspirin.
A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.
The DAT is a method used to detect immunoglobulin or complement bound in vivo to RBCs, using anti-human reagents. There are 3 different reagents that may be used: monospecific reagents to detect either bound immunoglobulin G (IgG) or bound complement (C3) and polyspecific reagents that can simultaneously detect IgG and/or C3. In screening of RBCs for the presence of bound globulins and/or C3, many laboratories may choose to use the polyspecific reagent initially (ie, as a screen for any bound IgG and/or complement) and, if positive, subsequently use monospecific reagents to specifically distinguish what is bound to the RBC surface.
Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.
An abnormally low blood pH (usually defined as less than 7.35).
An abnormally high blood pH (usually defined as 7.41 or above).
ABO phenotype A, corresponding to the genotype AO or AA.
An increased concentration of isoleucine in the urine.
An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.
The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.
FY has two major codominant alleles, FYA and FYB, which result from a SNP (125G>A), and the corresponding Fya and Fyb antigens differ by a single amino acid (G42D). Individuals who are homozygous for a -33T>C SNP in the erythroid promoter region of the FYB allele have the phenotype Fy(a-b-) and do not express Duffy antigens on their RBCs.
Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).
Beta2GPI was identified as a primary target of autoantibodies in patients with APS. Beta2GPI is a single-chain protein containing five repeating sequences or domains. Domain V is essential for binding to anionic phospholipid membranes, whereas domain I sticks out into the extracellular space where interactions with other proteins/antibodies can take place 1.
Anti-beta 2 glycoprotein I antibody positivity
An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.
Increased urinary alpha-1-acid glycoprotein
Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching,dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.
Hypersensitivity is broadly defined as objectively reproducible symptoms or signs, initiated by exposure to a defined stimulus at a dose tolerated by normal subjects and may be caused by immunologic (allergic) and non-immunologic mechanisms.
Immediate-type hypersensitivity drug reaction
The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.
In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.
Acute vesiculation and crusting and scarring following sun exposure
Inheritance of both homologues of a chromosome pair from the same parent.
UPD may comprise the whole chromosome, or just part of it (segmental UPD). Isodisomy is presented as 2 copies from the same chromosome of a parent, and heterodisomy is presented as 1 copy of each of the 2 homologues from the same parent. UPD is related to abnormalities formed during meiosis, fertilization, and mitosis. There are 5 different mechanisms that explain the etiology of UPD, including Trisomic rescue; Nullisomic gamete complementation; Monosomic rescue; Mitotic aberrations; and Structural chromosome aberrations. If prenatal genetic analysis reveals a homologous robertsonian translocation, the risk of fetal UPD is very high, and a marker chromosome or chromosome aneuploidy can be associated with UPD.
A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.
A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.
Any deviation from the normal concentration of transferrin in the blood circulation.
An abnormally increased concentration of transferrin in the blood circulation.
An abnormally decreased concentration of transferrin in the blood circulation.
Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.
Heterotopia that forms a continuous wavy line along the ventricular wall.
A form of heterotopia were the mislocalized gray matter is located deep within the white matter.
Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.
Nodular subcortical heterotopia in peritrigonal regions
Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.
Diffuse ribbon-like subcortical heterotopia
Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.
This pattern is assocatied with Chudlely-McCullough syndrome.
Mesial parasagittal subcortical heterotopia
Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.
Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.
An increased concentration of citrulline in the urine.
An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.
An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.
An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.
A increased concentration of aspartic acid in the urine.
An increased concentration of asparagine in the urine.
An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.
More precise HPO terms should be used if possible. This term should be used only if the etiology has not yet been clarified.
An increased level of phosphoserine in the urine.
Increased level of phosphoserine in urine
O-phosphoserine is a serine derivative that is serine substituted at the oxygen atom by a phosphono group.
A type of perisylvian polymicrogyria that largely affects one side of the brain.
A type of perisylvian polymicrogyria that affects both sides of the brain.
A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.
The differential diagnosis includes fibrocystic disease, fibroadenomas, breast cancer, mammary duct ectasia, and intraductal papilloma.
A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.
Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.
Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.
Subcortical band heterotopia posterior predominant
Posterior predominant subcortical band heterotopia
Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.
Subcortical band heterotopia anterior predominant
Anterior predominant subcortical band heterotopia
Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.
The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.
Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.
Parasagittal parieto-occipital polymicrogyria
A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.
A microaneurysm may be a focal bulge or have a saccular, fusiform, or mixed appearance. Multiple microaneurysm may be observed in the fundus.
Periglomerular fibrosis is defined as glomeruli with open capillaries, but lamellated, frequently wrinkled, Bowman capsular basement membrane and circumferential layers of interstitial-type collagen around, within, or between the usually thickened, frequently lamellated, Bowman capsule basement membrane.
An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).
Traditionally, HDL is separated into two major subclasses (HDL2 and HDL3), but depending on the separation method used, u[ to 10 subfractions have been reported.
Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm.
Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2B particle is defined as an HDL particle with a size of 9.7-12 nm.
A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.
An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.
Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.
An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.
An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.
Separation of the umbilical cord occurs at an abnormally late timepoint.
The umbilical cord of the newborn usually separates and sloughs by the end of the second postnatal week. However, a wide variation exists in the age at which cord separation occurs in healthy infants with regard to ethnicity, geographical location, and methods of cord care. A marked delay in cord separation raises the suspicion of leukocyte adhesion deficiency, a rare disorder leading to defective neutrophil function.
An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.
The umbilical cord stump then gradually dries and typically falls off within 5 to 15 days. Both skin and enteric bacteria may colonize the devitalized tissue of the stump and lead to infection. Omphalitis is, therefore, a polymicrobial infection and the most common pathogens are Staphylococcus aureus, Streptococcus pyogenes, and gram-negative bacteria such as Escherichia coli, Klebsiella pneumoniae, and Proteus mirabilis.
Any deviation from the normal concentration of C-reactive protein in the blood circulation.
An abnormal decrease of the C-reactive protein level in serum.
Abnormally increased variability in the size of platelets.
An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.
Particles can be defined as any small bits of material or droplets either inorganic or organic, viable or nonviable, that can become airborne. They can range from small molecules less than 0.001 micrometer to pollens and spores ranging between 2 and 50 micrometers and very large visible dust particles in the range of 1000 micrometers. Particles can also assume many shapes including long, fibrous varieties with a length greater than three times diameter, spheres, oddly shaped or irregularly shaped material, oblong, crescent-shaped varieties, or other peculiar shapes, such as certain pollen grains and mold spores.
ABO phenotype B, corresponding to the genotype BO or BB.
ABO phenotype AB, corresponding to the genotype AB.
ABO phenotype O, corresponding to the genotype OO.
In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.
This subontology of the HPO is not intended to provide all needed terms to describe the past medical history, but rather to be combined with other ontologies such as MONDO in order to capture information that is often needed to properly assess phenotypic findings related to a presenting medical problem.
The affected individual has received an organ transplant previous to the current medical encounter.
A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.
The thin wall of cystic lesions differentiates them from cavitary processes, which have thicker and irregular walls and will not be discussed in this article. On chest radiographs, findings of a cyst are often subtle, consisting of lucencies and sometimes linear opacities. An air-fluid level can improve the visibility of a cyst and may suggest infection. For the investigation of cysts, CT is substantially more sensitive than chest radiography, showing a cyst as a ringlike lucency surrounded by a thin wall.
A cystic space with a diameter of one cm or more. Bullae can reach substantial size and occupy an entire lobe.
Blebs and bullae are commonly subpleural and are mostly seen in both upper lobes in patients with coexisting centrilobular and paraseptal emphysema.
A bleb is a cystic space one cm or less in diameter.
A condition in which production of hydrochloric acid in the stomach is absent.
Gastric acid is the fluid secreted by the stomach. It is composed of hydrochloric acid, potassium chloride, and sodium chloride. Hydrochloric acid plays an integral part in the digestion of food and protects our body against pathogens ingested with food or water. The parietal cells lining the stomach are mainly involved in its production.
An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.
Hemidesmosomes (HDs) are highly specialized integrin-mediated epithelial attachment structures that make cells firmly adhere to the extracellular matrix by establishing a link between the underlying basement membrane (BM) and the internal mechanical stress-resilient keratin intermediate filament (IF) network. Although HDs are defined by their ultrastructural appearance, two types of HDs, type I and II, can be distinguished on the basis of their protein components. Classical type I HDs, found in stratified and pseudostratified epithelia, for example in the epidermis, consist in five major components, namely integrin alpha6beta4, plectin isoform 1a (P1a), tetraspanin CD151, bullous pemphigoid antigen (BPAG)1 isoform e (BPAG1e, also called BP230) and BPAG2 (also called BP180 or type XVII collagen). Type II HDs, found in simple epithelia such as that of the intestine, consist of integrin alpha6beta4 and plectin and lack the two BP antigens.
Abnormal dermoepidermal hemidesmosome morphology
Detection of arsenic in the blood circulation.
Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.
Melanotic macules very rarely, if ever, present larger than one centimeter in diameter. Although these are innocuous lesions, a biopsy is usually warranted for diagnosis since mucosal melanoma can mimic the appearance of a melanotic macule. Melanotic macules are caused by functional hyperactivity of the regional melanocytes ie there is increased melanin production. Histologically, this is evidenced by abundant melanin pigmentation within the basal epithelial cell layer with melanin incontinence in the superficial portions of the submucosa. Importantly, there is no increase in melanocyte number. If there is evidence of melanocytic hyperplasia, it should be diagnosed as such and the lesion would likely warrant complete surgical removal. It is possible that melanocytic hyperplasia may potentially herald the development of malignant melanoma.
Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.
Oral melanoacanthoma is a relatively uncommon melanocytic lesion that may cause rapid, diffuse, and dark pigmentation of a large mucosal area. However, this is an innocuous pathology that is often self-limiting and may spontaneously resolve, with or without surgical intervention.
Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.
Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.
Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.
The beta2 integrin (CD18) expressed on leukocytes can pair with several alpha integrin subunits, and each alpha-beta pairing can bind a variety of ligands, including the counterreceptors ICAM-1, -2 and -3, fibrinogen, the complement fragment iC3b, and polysaccharides.
A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and grey matter.
Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.
A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.
Any deviation from the normal activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
Intracellular availability of the sugar phosphate, 5-phosphoribosyl 1-pyrophosphate (PP-ribose-P), is an important factor in regulation of the rate of purine synthesis de novo. PP-ribose- P synthetase (EC2.7.6.1) is an enzyme that catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. An increased activity of PP-ribose- P synthetase can be associated with increased PP-ribose-P concentrations and increased purine biosynthetic rates. Increased purine production in turn can be associated with gout.
Abnormal phosphoribosylpyrophosphate synthetase activity
Abnormally reduced activity of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
It is difficult to assay PRS1 enzyme activity separately from that of the other two isoforms (PRS2 and PRS3), a decrease in PRS enzyme activity may be assumed to reflect decreased activity of PRS1, not PRS2 or PRS3.
Decreased phosphoribosylpyrophosphate synthetase activity
Ab abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.
An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.
Palmitic acid (16:0, PA) is the most common saturated fatty acid found in the human body and can be provided in the diet or synthesized endogenously from other fatty acids, carbohydrates and amino acids. PA represents 20-30% of total fatty acids (FA) in membrane phospholipids, and adipose triacylglycerols (TAG).
A reduction below the normal concentration of fibronectin the the blood circulation.
Fibronectin is a large vertebrate glycoprotein that is found in soluble and insoluble forms and involved in diverse processes. Protomeric fibronectin is a dimer of subunits, each of which comprises 29-31 modules - 12 type I, two type II and 15-17 type III. Plasma fibronectin is secreted by hepatocytes and circulates in a compact conformation before it binds to cell surfaces, converts to an extended conformation and is assembled into fibronectin fibrils.
Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.
Bladder trabeculation is caused by morphological and histological changes due to hypertrophy and hyperplasia of the bladder muscle and the infiltration of the connective tissue.
Lack of formation (congenital absence) of the olfactory bulb.
Olfactory bulb aplasia causes anosmia, a complete loss of the sense of smell.
Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.
One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).
Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.
Asialoglycoprotein receptor (ASGPR) is a C-type lectin, primary expressed on the sinusoidal surface of the hepatocyte. ASGPR autoantibodies is considered specific markers of autoimmune hepatitis.
Anti-asialoglycoprotein receptor antibody positivity
The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.
This feature is often accompanied by hair loss.
Polymicrogyria affecting one or multiple small areas of the cerebral cortex.
An abnormal concentration of urobilinogen in the urine.
An abnormally reduced concentration of urobilinogen in the urine.
Urinary urobilinogen can be reduced or absent if reduced amounts of bilirubin are excreted into the intestinal tract.
A malformation of the pachygyria-agyria spectrum. A 6-layered cortex is characterized by bands of ectopic neurons of varying shape and size organized in columns or clusters, lying in a reduced rim of white matter. Layers I and II of the cortex are well defined, and pyramidal and polymorphic neurons of layers III, IV, V, and VI are found more or less in their appropriate location.
An abnormal concentration of vitamin B6 in the blood circulation.
An abnormally increased concentration of vitamin B6 in the blood circulation.
Protrusion of the arachnoid and dura through spinal foramina.
It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.
An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.
Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).
This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.
Abnormal pituitary glycoprotein hormone alpha subunit level
An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).
Decreased pituitary glycoprotein alpha subunit level
Decreased pituitary glycoprotein polypeptide alpha subunit level
Decreased pituitary glycoprotein hormone alpha subunit level
Abnormal level of metabolite or other abnormal analyte result in a stool test.
An elevated concentration of sodium in feces.
Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.
Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.
Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.
Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.
Abnormally high fecal pH, i.e., abnormal alkalinity of feces.
Abnormally low fecal pH, i.e., abnormal acidity of feces.
An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.
Argininosuccinic acid is an intermediate in the urea cycle.
Increased circulating argininosuccinic acid
Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.
Myelin oligodendrocyte glycoprotein (MOG), a member of the immunoglobulin (Ig) superfamily, is a myelin protein solely expressed at the outermost surface of myelin sheaths and oligodendrocyte membranes. MOG Abs can be found in a subset of predominantly pediatric patients with acute disseminated encephalomyelitis, aquaporin-4 seronegative neuromyelitis optica spectrum disorders, monophasic or recurrent isolated optic neuritis, or transverse myelitis, in atypical multiple sclerosis, and in N-methyl-d-aspartate receptor-encephalitis.
Anti-myelin oligodendrocyte glycoprotein antibody positivity
An abnormally high concentration of trypsinogen in the blood circulation.
An elevated immunoreactive trypsinogen test can be observed in infants with cystic fibrosis.
A deviation from the normal proportion of terminal to vellus hairs.
Scalp hairs comprise large terminal hairs and small vellus hairs. Terminal hairs are conspicuous and exceed 0.03 mm in diameter and 1 cm in length, and may be pigmented and medullated. Vellus hairs are inconspicuous and are 0.03 mm or less in diameter and less than 1 cm in length and lack melanin and medulla.
An increased proportion of terminal hairs compared to vellus hairs.
A terminal:vellus ratio over 7:1 is characteristic of chronic telogen effluvium.
A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.
An decreased proportion of terminal hairs compared to vellus hairs.
Lack of skin pigmentation (coloring) of the chest.
Failure of development of facial skeleton
Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.
Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.
High frequency of chromosome breaks in lymphocytes
Increased activity of mitochondrial respiratory chain
Absent/underdeveloped 5th long bone of foot
Aplasia/Hypoplasia of the fifth metatarsal bone
Abnormality of the 2nd long bone of foot
Abnormality of the second metatarsal bone
Abnormality of the 4th long bone of foot
Abnormality of the fourth metatarsal bone
Painless and spontaneous separation of a toenail from the nail bed.
Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.
Failure of development of upper eyelashes
Abnormal shape of bones of the upper limbs
Abnormal morphology of bones of the upper limbs
Abnormal shape of bones of the lower limbs
Abnormal morphology of bones of the lower limbs
obsolete Abnormal concentration of calcium in blood
Any deviation from the normal circulating creatine kinase concentration.
Abnormal circulation phospho-CK concentration
Abnormal levels of creatine kinase in blood
Abnormal circulating creatine kinase concentration
A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context.
Any deviation from the normal concentration of folate in the blood circulation.
Folate is an essential water-soluble vitamin (vitamin B9) that is found in green leafy vegetables, cereals, legumes, and fruit. As a major methyl group donor, it plays an important role in one-carbon metabolism and is involved in DNA, RNA, and protein synthesis, in addition to its significant role in energy production and normal cell division. Low blood folate concentration is associated with an increased risk for neural tube defects during pregnancy.
Any abnormality in the total number of lymphocytes in the blood.
Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.
Abnormality of natural killer cell count
In human peripheral blood, five NK cell subpopulations can be defined on the basis of the relative expression of the markers CD16 and CD56: (1) CD56bright CD16- (50-70% of CD56bright), (2) CD56bright CD16dim (30-50% of CD56bright), (3) CD56dim CD16-, (4) CD56dim CD16bright, and (5) CD56- CD16bright. In healthy individuals, populations (3) and (5) are numerically in the minority.
The tympanic membrane is considered to be the border of middle and outer ear.
A tumor (abnormal growth of tissue) of the outer ear.
A tumor (abnormal growth of tissue) of the inner ear.
A tumor (abnormal growth of tissue) of the ceruminal gland.
Cutaneous atresia of the external auditory canal
Osseous atresia of the external auditory canal
Cutaneous stenosis of the external auditory canal
Osseous stenosis of the external auditory canal
Morphological abnormality of the horizontal semicircular canal
Morphological abnormality of the lateral semicircular canal
Morphological abnormality of the posterior semicircular canal
Morphological abnormality of the anterior semicircular canal
Morphological abnormality of the utricle
Morphological abnormality of the saccule
Old-aged sensorineural hearing impairment
Absence of the reflex of the tensor tympani muscle
Unilateral conductive hearing impairment
Abnormality of the reflex of the tensor tympani muscle
An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.
Abnormal middle-ear-muscles (MEM) reflex
Impairment of the reflex of the tensor tympani muscle
A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.
An abnormality of the composition of sweat or the levels of its components.
Abnormal motor nerve conduction velocity
Abnormal sensory nerve conduction velocity
A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.
Ferritin is an iron storage protein present in all cells of the organism. A small amount is found in plasma and serum, which is a reflection of iron stores in healthy individuals. A low serum ferritin concentration is usually regarded as an indicator of iron depletion, although the interpretation of normal or high serum ferritin values is challenging in the presence of acute or chronic inflammatory processes, as ferritin is increased in iron overload states and inflammation.
Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.
A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.
Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.
Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.
Usually caused by a faulty lipid metabolism
the involuntary movements are tardive, meaning they have a slow or belated onset
Decreased activity of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.
Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus
An increase in the level of L-2-hydroxyglutaric acid in the urine.
A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.
An increased amount of 3-hydroxybutyric acid in the urine.
An increased amount of carboxylic acid in the urine.
Generalized osteoporosis with pathologic fractures
A very specific feature of Costello Syndrome
Abnormality of extrinsic muscle of tongue
Platelet-activating factor acetylhydrolase deficiency
Any deviation from the normal concentration of a phospholipid in the blood circulation.
Abnormal circulating phospholipid concentration
Abnormal level of platelet-activating factor
Increased level of platelet-activating factor
Decreased level of platelet-activating factor
Cracking, fissuring, and peeling of the skin of the lips.
Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.
A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.
Systemic inflammatory response to infection in newborn babies.
Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.
Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.
An endocrine tumor arising from an APUD cell.
amine precursor uptake and decarboxylation tumours
An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.
An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.
Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly.
Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
See related discussion https://github.com/obophenotype/human-phenotype-ontology/issues/497
Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.
The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.
Damage to premotor and prefrontal regions results in motor-intentional disorders that disrupt initiation, maintenance, and termination of volitional movements. Motor impersistence (i.e., failure to maintain movement) more frequently develops following right than left hemisphere lesions.
A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.
Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).
Increased concentration of neopterin in the cerebrospinal fluid (CSF).
Decreased concentration of neopterin in the cerebrospinal fluid (CSF).
Any deviation from the normal concentration of neopterin in the blood circulation.
Neopterin can be found to have abnormal level in blood, CSF, or urine.
Abnormal circulating neopterin concentration
Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).
Abnormal cerebrospinal fluid biopterin level
Increased concentration of biopterin in the cerebrospinal fluid (CSF).
Decreased concentration of biopterin in the cerebrospinal fluid (CSF).
A deviation from the normal concentration of biopterin in the blood circulation.
Abnormal circulating biopterin concentration
An abnormality of the skin of the palm, that is, the skin of the front of the hand.
Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.
Accompanied by rigidity of neck and trunk muscles and arching of back. Often observed as a sign of tetanus.
Hypopnea is referring to breathing that is abnormally shallower and/or slow.
Not to be confused with Hypoventilation. Hypopnea is distinct from apnea in which there is no breathing.
An abnormal concentration of insulin in the body.
An abnormal concentration of insulin in the blood.
A decreased concentration of insulin in the blood.
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.
Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.
An increased tendency towards thrombosis in the mother during a pregnancy.
Maternal thrombophilia has been linked to an increased incidence of placental abruption, as well as other adverse pregnancy outcomes. It is believed that the increased obstetrical risk is mediated through placental vascular dysfunction. Placental thrombosis can then result in subsequent ischemic complications, such as fetal loss, preeclampsia, and fetal growth restriction. Placental abruption has been identified as being part of the spectrum of ischemic placental disease and is postulated to be a chronic disease process (PMID:25401392).
Clincial phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)
requested and created by members of the BRIDGE consortium
A decrease in high molecular weight von Willebrand factor multimers.
Decrease in high molecular weight von Willebrand factor Multimers
An abnormality of coagulation related to a decreased concentration of heparin co-factor II
Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation
Decreased level of histidine-rich glycoprotein
Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot
tPA catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis
Decreased level of tissue plasminogen activator
Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.
Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.
Measurement of subunit A or B can be performed by Elisa kits. Adding the more granular term would facilitate mutation analysis as both subunits are encoded by different genes. This is not always performed in the diagnostic workup so 'Reduced factor XIII activity' would sufice. This term has been requested and created by members of the BRIDGE consortium
Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.
The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.
This term has been requested and created by members of the BRIDGE consortium
Increased degradation of fibrin, associated with clot instability and bleeding
Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.
An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response
Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.
Increased plasma vitamin K epoxide after vitamin K supplementation
An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.
Some forms of von Willebrand Disease Type I (particularly those previously classified as type IC) and Acquired von Willebrand Disease. This term has been requested and created by members of the BRIDGE consortium
Increased ratio of VWF propeptide to VWF antigen
Increased platelet agglutination in response to low-dose ristocetin
Characteristic of type 2B von Willebrand Disease or platelet-type (pseudo) VWD. (NB: this is not the same as enhanced ristocetin coafactor assay activity) This term has been requested and created by members of the BRIDGE consortium
Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.
Increased time to coagulation in the Russell's viper venom assay
Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.
Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.
Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.
Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.
Reduced plasminogen activator inhibitor 1 activity
Reduced level of plasminogen activator inhibitor 1 antigen.
Added the antigen level as diagnosis with only activity levels is very difficult due to assay problems. Activity levels of control patients also include 0 within the normal limit. This term has been requested and created by members of the BRIDGE consortium
Reduced plasminogen activator inhibitor 1 antigen
Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.
A subtype of skin dimples occurring on the hands.
Absence or underdevelopment of the nasopharyngeal adenoids.
Aplastic/Hypoplastic nasopharyngeal adenoids
A deviation in the size of nasopharyngeal adenoids.
Abnormal size of nasopharyngeal adenoids
Underdevelopment of the nasopharyngeal adenoids.
Absence of the nasopharyngeal adenoids as a developmental defect.
An abnormal decrease in the size of nasopharyngeal adenoids.
Decreased size of nasopharyngeal adenoids
An abnormal increase in the size of nasopharyngeal adenoids.
Increased size of nasopharyngeal adenoids
Middle ear is filled with glue-like fluid instead of air.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.
Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections
An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.
A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.
Seen in a wide-ranging variety of spinal cord processes including; simple MR artefacts, congenital anomalies etc. Characterization of the abnormal areas of T2 signal as well as their appearance on other MR imaging sequences, when combined with clinical context and laboratory investigations, will often allow a unique diagnosis, or at least aid in narrowing the differential diagnosis.
Hyperintensity of MRI T2 signal of the spinal cord
A malignant epithelial tumor with a glandular organization that originates in the intestines.
A malignant epithelial tumor with a glandular organization that originates in the small intestine.
A malignant epithelial tumor with a glandular organization that originates in the large intestine.
A benign tumor (adenoma) of the pituitary gland
Associated with increased prolactin in the blood (hyperprolactinemia)
Class to represent frequency of phenotypic abnormalities within a patient cohort.
Always present, i.e. in 100% of the cases.
Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).
Decreased circulating free fatty acid level
Any deviation from the normal concentration of a free fatty acid in the blood circulation.
Abnormal circulating free fatty acid level
Abnormal circulating free fatty acid concentration
An increased concentration of glycerol in the urine.
Increased concentration of glycerol in the blood.
In glycerol kinase deficiency, the increased glycerol concentration has been noted to cause false-positive results of hypertriglyceridemia, a phenomenon called pseudohypertriglyceridemia.
Increased desire for sexual activity on the part of a male.
Reduced desire for sexual activity on the part of a male.
An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.
This form of arthritis is termed 'sterile' because bacetriology returns negative results even though the clinical presentation resembles that of infectious arthritis.
Normally, the female reproductive canal is connected to the internal genitalia. "Blind vagina" denotes cases, where this canal ends in a sac.
Blue or green urine coloration may be observed due to certain dyes used for tests of kidney and bladder function, some medications, and disorders including familial benign hypercalcemia and urinary tract infections caused by pseudomonas bacteria.
An abnormal red-brown color of the urine.
An abnormal dark-yellow color of the urine.
Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.
In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.
Heliotrope rash occurs during the initial phase of the idiopathic inflammatory myositis (particularly dermatomyositis). Heliotrope rash is a characteristic symptom of Dermatomyositis.
A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.
An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.
Abnormal morphology of the olfactory bulb
An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.
Focal hyperintensity of cerebral white matter on MRI
An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.
Multifocal hyperintensity of cerebral white matter on MRI
Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.
Confluent hyperintensity of cerebral white matter on MRI
Focal hypointensity of cerebral white matter on MRI
Multifocal hypointensity of cerebral white matter on MRI
Confluent hypointensity of cerebral white matter on MRI
Chronic rhinitis accompanied by pus formation.
An infection of the nasal mucosa associated with pus formation. (Often secondary to a systemic infection, such as measles)
Abnormal ossification of the trapezoid bone
A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.
Aplasia (absence) of the lymphatic vessels.
Abnormally decreased concentration of hydrogencarbonate in the urine.
Decreased urine bicarbonate concentration
Decreased urinary catecholamine concentration
obsolete Decreased urinary glucose concentration
obsolete Elevated serum long-chain fatty acids
Defect or defects of the morphogenesis of the left heart identifiable at birth.
Congenital malformation of the left heart
Reduction in the vertical distance between the upper and lower eyelids.
Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.
This is a severe phenotype that can be diagnosed at the fetopathological level, by which a diagnosis of lissencephaly can be made by the examination of the 6 layers of the cortex. Examination may show 3 layers or an extremely thin cortical plate consistent with the diagnosis of lissencephaly.
Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.
An increased amount of 3-aminoisobutyric acid in the urine.
Llymphoma that originates in the stomach itself.
An uncommon condition, that accounts for less than 15% of gastric malignancies and about 2% of all lymphomas.
Osteolysis involving bones of the upper limbs
A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.
Lactate dehydrogenase catalyzes the interconversion of lactate and pyruvate. The B subunit of that enzyme is encoded by LDHB.
A reduced level of the complement component C4 in the circulation.
A reduced level of the complement component C4a in circulation.
A reduced level of the complement component C4b in circulation.
Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits.
Insulin-like growth factor binding protein, acid labile subunit, also known as IGFALS, is a protein which in humans is encoded by the IGFALS gene.
Reduced insulin like growth factor binding protein acid labile subunit level
Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.
An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.
An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.
Abnormal transfer factor of the lung for carbon monoxide
A test of the diffusing capacity of the lungs for carbon monoxide (DLCO) is one of the most clinically valuable tests of lung function.
Factors that can increase the DLCO include polycythaemia, asthma (can also have normal DLCO) and increased pulmonary blood volume as occurs in exercise. Other factors are left to right intracardiac shunting, and alveolar hemorrhage.
DLCO is decreased in any condition which affects the effective alveolar surface area
Any abnormality of the brachial nerve plexus.
Abnormality of the brachial nerve plexus
Any abnormality of the lumbosacral nerve plexus.
Abnormality of the lumbosacral nerve plexus
Related to ticket: https://github.com/obophenotype/human-phenotype-ontology/issues/484
A diagnostic alternating light and dark banding pattern under polarizing microscopy.
An anomaly of the size of the testicle (the male gonad).
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).
Initially added for annotation of http://www.omim.org/clinicalSynopsis/615327
Aplasia/hypoplasia involving bones of the extremities
Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.
Increased prothrombin induced by vitamin K absence-II
PIVKA-II can be measured by enzyme-linked immunosorbent assay (ELISA).
Decreased density/number of eyebrow hairs.
Irregularity of the normally smooth surface of the distal metaphysis of the femur.
Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.
Decreased proportion of CD3-positive T cells
Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.
Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.
Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573
The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).
An early onset of puberty, in this case early does not refer to precocious.
Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.
A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.
A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.
A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).
Testicular mesothelioma originates from cells of the tunica vaginalis (the thin layer of mesothelium surrounding the testicles). Testicular mesothelioma is the rarest form of mesothelioma.
A neoplasm of the central nervous system.
A benign or malignant neoplasm (tumour) of the peripheral nervous system.
Neoplasm of the peripheral nervous system
A benign nerve sheath tumor composed of Schwann cells.
Glial cells are cells that support nerve cells. Schwann cells wrap around the axon to form the myelin sheath. Schwann cells are involved in many important aspects of peripheral nerve biology; the conduction of nervous impulses along axons, nerve development and regeneration, trophic support for neurons, production of the nerve extracellular matrix and presentation of antigens to T-lymphocytes. Charcot-Marie-Tooth disease (CMT), Guillain-Barre syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells.
A tumor (abnormal growth of tissue) of the eye.
A tumor (abnormal growth of tissue) of the breast.
An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.
The helix is often poorly formed. Four types have been recognized in the surgical literature [Yamada and Fukuda, 1980].
Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).
A cataract that affects the capsule of the lens.
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.
Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy.
A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down.
An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger.
A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction.
An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.
An aberrant or ectopic thyroid gland may occur anywhere along the path of initial descent of the thyroid. A total failure to descend contrasts with the incomplete descent of the thyroid, in which case the resulting final resting point of the gland may be high in the neck or just below the hyoid bone. Appart from an abnormal descent, accessory thyroid tissue can also occur, arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.
An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.
A lingual thyroid is the most common form of an aberrant thyroid gland.
Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.
While the accessory thyroid tissue may be functional, it is generally insufficient for normal function if the main thyroid gland is entirely removed.
A tumor (abnormal growth of tissue) of the thyroid gland.
Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement.
Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics.
Movement-based tics affecting discrete muscle groups.
Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound.
A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.
Typical sites of involvement are the axillary margins of the scapula, ribs, pubic rami, proximal ends of the femur and ulna. On x-rays pseudo-fractures appear as a lucent line about 1 -2 cm wide, vertical to the cortex and are pathognomonic of osteomalacia, seen on the concave side and are also seen in Paget disease on the convex side of the bone.
Scalp hair whose growth is slower than normal.
An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.
Note that an apparent broad appearance might be due to a hidden duplication.
Cone-shaped end part of the 2nd toe bone
Fragmentation of the end part of the 2nd toe bone
Fragmentation of the epiphyses of the 2nd toe
Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the 2nd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.
Speckled calcifications in the end part of the 2nd toe bone
Stippling of the epiphyses of the 2nd toe
Cone-shaped end part of the 3rd toe bone
Fragmentation of the end part of the 3rd toe bone
Fragmentation of the epiphyses of the 3rd toe
Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the 3rd toe bone
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.
Speckled calcifications in the end part of the 3rd toe bone
Stippling of the epiphyses of the 3rd toe
Cone-shaped end part of the 4th toe bone
Fragmentation of the end part of the 4th toe bone
Fragmentation of the epiphyses of the 4th toe
Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the 4th toe bone
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.
Speckled calcifications in the end part of the 4th toe bone
Stippling of the epiphyses of the 4th toe
Bracket shaped end part of little toe bone
Bracket shaped end part of pinkie toe bone
Bracket shaped end part of pinky toe bone
Cone-shaped end part of the little toe bone
Cone-shaped end part of the pinkie toe bone
Cone-shaped end part of the pinky toe bone
Enlarged end part of the little toe bone
Enlarged end part of the pinkie toe bone
Fragmentation of the end part of the little toe bone
Fragmentation of the end part of the pinkie toe bone
Fragmentation of the end part of the pinky toe bone
Fragmentation of the epiphyses of the 5th toe
Irregular end part of the little toe bone
Irregular end part of the pinkie toe bone
Irregular end part of the pinky toe bone
Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.
Increased bone density of end part of the little toe bone
Increased bone density of end part of the pinkie toe bone
Increased bone density of end part of the pinky toe bone
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.
Speckled calcifications in the end part of the little toe bone
Speckled calcifications in the end part of the pinkie toe bone
Speckled calcifications in the end part of the pinky toe bone
Stippling of the epiphyses of the 5th toe
Triangular end part of the little toe bone
Triangular end part of the pinkie toe bone
Triangular end part of the pinky toe bone
Abnormality of the end part of the outermost bone of the 2nd toe
Abnormality of the epiphysis of the distal phalanx of the 2nd toe
Abnormality of the end part of the middle bone of the 2nd toe
Abnormality of the epiphysis of the middle phalanx of the 2nd toe
Abnormality of the end part of the innermost bone of the 2nd toe
Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
Abnormality of the end part of the outermost bone of the 3rd toe
Abnormality of the epiphysis of the distal phalanx of the 3rd toe
Abnormality of the end part of the middle bone of the 3rd toe
Abnormality of the epiphysis of the middle phalanx of the 3rd toe
Abnormality of the end part of the innermost bone of the 3rd toe
Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
Abnormality of the end part of the outermost bone of the 4th toe
Abnormality of the epiphysis of the distal phalanx of the 4th toe
Abnormality of the end part of the middle bone of the 4th toe
Abnormality of the epiphysis of the middle phalanx of the 4th toe
Abnormality of the end part of the innermost bone of the 4th toe
Abnormality of the epiphysis of the proximal phalanx of the 4th toe
Abnormality of the end part of the outermost bone of the little toe
Abnormality of the end part of the outermost bone of the pinkie toe
Abnormality of the end part of the outermost bone of the pinky toe
Abnormality of the epiphysis of the distal phalanx of the 5th toe
Abnormality of the end part of the middle bone of the little toe
Abnormality of the end part of the middle bone of the pinkie toe
Abnormality of the end part of the middle bone of the pinky toe
Abnormality of the epiphysis of the middle phalanx of the 5th toe
Abnormality of the end part of the innermost bone of the little toe
Abnormality of the end part of the innermost bone of the pinkie toe
Abnormality of the end part of the innermost bone of the pinky toe
Abnormality of the epiphysis of the proximal phalanx of the 5th toe
Absent end part of the outermost bone of the 2nd toe
Absent epiphysis of the distal phalanx of the 2nd toe
Bracket shaped end part of the outermost bone of the 2nd toe
Bracket epiphysis of the distal phalanx of the 2nd toe
Cone-shaped end part of the outermost bone of the 2nd toe
Cone-shaped epiphysis of the distal phalanx of the 2nd toe
Enlarged end part of the outermost bone of the 2nd toe
Enlarged epiphysis of the distal phalanx of the 2nd toe
Fragmentation of the end part of the outermost bone of the 2nd toe
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
Irregular end part of the outermost bone of the 2nd toe
Irregular epiphysis of the distal phalanx of the 2nd toe
Increased bone density of end part of the outermost bone of the 2nd toe
Ivory epiphysis of the distal phalanx of the 2nd toe
Pseudoepiphysis of the distal phalanx of the 2nd toe
Small end part of the outermost bone of the 2nd toe
Small epiphysis of the distal phalanx of the 2nd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.
Speckled calcifications in the end part of the outermost bone of the 2nd toe
Stippling of the epiphysis of the distal phalanx of the 2nd toe
Triangular end part of the outermost bone of the 2nd toe
Triangular epiphysis of the distal phalanx of the 2nd toe
Absent end part of the middle bone of the 2nd toe
Absent epiphysis of the middle phalanx of the 2nd toe
Bracket shaped end part of the middle bone of the 2nd toe
Bracket epiphysis of the middle phalanx of the 2nd toe
Cone-shaped end part of the middle bone of the 2nd toe
Cone-shaped epiphysis of the middle phalanx of the 2nd toe
Enlarged end part of the middle bone of the 2nd toe
Enlarged epiphysis of the middle phalanx of the 2nd toe
Fragmentation of the end part of the middle bone of the 2nd toe
Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
Irregular end part of the middle bone of the 2nd toe
Irregular epiphysis of the middle phalanx of the 2nd toe
Increased bone density of end part of the middle bone of the 2nd toe
Ivory epiphysis of the middle phalanx of the 2nd toe
Pseudoepiphysis of the middle phalanx of the 2nd toe
Small end part of the middle bone of the 2nd toe
Small epiphysis of the middle phalanx of the 2nd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.
Speckled calcifications in of the end part of the middle bone of the 2nd toe
Stippling of the epiphysis of the middle phalanx of the 2nd toe
Triangular end part of the middle bone of the 2nd toe
Triangular epiphysis of the middle phalanx of the 2nd toe
Absent end part of the innermost bone of the 2nd toe
Absent epiphysis of the proximal phalanx of the 2nd toe
Bracket shaped end part of the innermost bone of the 2nd toe
Bracket epiphysis of the proximal phalanx of the 2nd toe
Cone-shaped end part of the innermost bone of the 2nd toe
Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
Enlarged end part of the innermost bone of the 2nd toe
Enlarged epiphysis of the proximal phalanx of the 2nd toe
Fragmentation of the end part of the innermost bone of the 2nd toe
Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
Irregular end part of the innermost bone of the 2nd toe
Irregular epiphysis of the proximal phalanx of the 2nd toe
Increased bone density of end part of the innermost bone of the 2nd toe
Ivory epiphysis of the proximal phalanx of the 2nd toe
Pseudoepiphysis of the proximal phalanx of the 2nd toe
Small end part of the innermost bone of the 2nd toe
Small epiphysis of the proximal phalanx of the 2nd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.
Speckled calcifications in the end part of the innermost bone of the 2nd toe
Stippling of the epiphysis of the proximal phalanx of the 2nd toe
Triangular end part of the innermost bone of the 2nd toe
Triangular epiphysis of the proximal phalanx of the 2nd toe
Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.
Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.
Absent end part of the outermost bone of the 3rd toe
Absent epiphysis of the distal phalanx of the 3rd toe
Bracket shaped end part of the outermost bone of the 3rd toe
Bracket epiphysis of the distal phalanx of the 3rd toe
Cone-shaped end part of the outermost bone of the 3rd toe
Cone-shaped epiphysis of the distal phalanx of the 3rd toe
Enlarged end part of the outermost bone of the 3rd toe
Enlarged epiphysis of the distal phalanx of the 3rd toe
Fragmentation of the end part of the outermost bone of the 3rd toe
Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
Irregular end part of the outermost bone of the 3rd toe
Irregular epiphysis of the distal phalanx of the 3rd toe
Increased bone density of end part of the outermost bone of the 3rd toe
Ivory epiphysis of the distal phalanx of the 3rd toe
Pseudoepiphysis of the distal phalanx of the 3rd toe
Small end part of the outermost bone of the 3rd toe
Small epiphysis of the distal phalanx of the 3rd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.
Speckled calcifications in the end part of the outermost bone of the 3rd toe
Stippling of the epiphysis of the distal phalanx of the 3rd toe
Triangular end part of the outermost bone of the 3rd toe
Triangular epiphysis of the distal phalanx of the 3rd toe
Absent end part of the middle bone of the 3rd toe
Absent epiphysis of the middle phalanx of the 3rd toe
Bracket shaped end part of the middle bone of 3rd toe
Bracket epiphysis of the middle phalanx of the 3rd toe
Cone-shaped end part of the middle bone of the 3rd toe
Cone-shaped epiphysis of the middle phalanx of the 3rd toe
Enlarged end part of the middle bone of the 3rd toe
Enlarged epiphysis of the middle phalanx of the 3rd toe
Fragmentation of the end part of the middle bone of the 3rd toe
Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
Irregular end part of the middle bone of the 3rd toe
Irregular epiphysis of the middle phalanx of the 3rd toe
Increased bone density of end part of the middle bone of the 3rd toe
Ivory epiphysis of the middle phalanx of the 3rd toe
Pseudoepiphysis of the middle phalanx of the 3rd toe
Small end part of the middle bone of the 3rd toe
Small epiphysis of the middle phalanx of the 3rd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.
Speckled calcifications in the end part of the middle bone of the 3rd toe
Stippling of the epiphysis of the middle phalanx of the 3rd toe
Triangular end part of the middle bone of the 3rd toe
Triangular epiphysis of the middle phalanx of the 3rd toe
Absent end part of the innermost bone of the 3rd toe
Absent epiphysis of the proximal phalanx of the 3rd toe
Bracket shaped end part of the innermost bone of 3rd toe
Bracket epiphysis of the proximal phalanx of the 3rd toe
Cone-shaped end part of the innermost bone of the 3rd toe
Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
Enlarged end part of the innermost bone of the 3rd toe
Enlarged epiphysis of the proximal phalanx of the 3rd toe
Fragmentation of the end part of the innermost bone of the 3rd toe
Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
Irregular end part of the innermost bone of the 3rd toe
Irregular epiphysis of the proximal phalanx of the 3rd toe
Increased bone density of end part of the innermost bone of the 3rd toe
Ivory epiphysis of the proximal phalanx of the 3rd toe
Pseudoepiphysis of the proximal phalanx of the 3rd toe
Small end part of the innermost bone of the 3rd toe
Small epiphysis of the proximal phalanx of the 3rd toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.
Speckled calcifications in of the end part of the innermost bone of the 3rd toe
Stippling of the epiphysis of the proximal phalanx of the 3rd toe
Triangular end part of the innermost bone of the 3rd toe
Triangular epiphysis of the proximal phalanx of the 3rd toe
Absent end part of the outermost bone of the 4th toe
Absent epiphysis of the distal phalanx of the 4th toe
Bracket shaped end part of the outermost bone of the 4th toe
Bracket epiphysis of the distal phalanx of the 4th toe
Cone-shaped end part of the outermost bone of the 4th toe
Cone-shaped epiphysis of the distal phalanx of the 4th toe
Enlarged end part of the outermost bone of the 4th toe
Enlarged epiphysis of the distal phalanx of the 4th toe
Fragmentation of the end part of the outermost bone of the 4th toe
Fragmentation of the epiphysis of the distal phalanx of the 4th toe
Irregular end part of the outermost bone of the 4th toe
Irregular epiphysis of the distal phalanx of the 4th toe
Increased bone density of end part of the outermost bone of the 4th toe
Ivory epiphysis of the distal phalanx of the 4th toe
Pseudoepiphysis of the distal phalanx of the 4th toe
Small end part of the outermost bone of the 4th toe
Small epiphysis of the distal phalanx of the 4th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.
Speckled calcifications in the end part of the outermost bone of the 4th toe
Stippling of the epiphysis of the distal phalanx of the 4th toe
Triangular end part of the outermost bone of the 4th toe
Triangular epiphysis of the distal phalanx of the 4th toe
Absent end part of the middle bone of the 4th toe
Absent epiphysis of the middle phalanx of the 4th toe
Bracket shaped end part of the middle bone of the 4th toe
Bracket epiphysis of the middle phalanx of the 4th toe
Cone-shaped end part of the middle bone of the 4th toe
Cone-shaped epiphysis of the middle phalanx of the 4th toe
Enlarged end part of the middle bone of the 4th toe
Enlarged epiphysis of the middle phalanx of the 4th toe
Fragmentation of the end part of the middle bone of the 4th toe
Fragmentation of the epiphysis of the middle phalanx of the 4th toe
Irregular end part of the middle bone of the 4th toe
Irregular epiphysis of the middle phalanx of the 4th toe
Increased bone density of end part of the middle bone of the 4th toe
Ivory epiphysis of the middle phalanx of the 4th toe
Pseudoepiphysis of the middle phalanx of the 4th toe
Small end part of middle long bone of 4th toe
Small epiphysis of the middle phalanx of the 4th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.
Speckled calcifications in the end part of the middle bone of the 4th toe
Stippling of the epiphysis of the middle phalanx of the 4th toe
Triangular end part of the middle bone of the 4th toe
Triangular epiphysis of the middle phalanx of the 4th toe
Absent end part of the innermost bone of the 4th toe
Absent epiphysis of the proximal phalanx of the 4th toe
Bracket shaped end part of the innermost bone of 4th toe
Bracket epiphysis of the proximal phalanx of the 4th toe
Cone-shaped end part of the innermost bone of the 4th toe
Cone-shaped epiphysis of the proximal phalanx of the 4th toe
Enlarged end part of the innermost bone of the 4th toe
Enlarged epiphysis of the proximal phalanx of the 4th toe
Fragmentation of the end part of the innermost bone of the 4th toe
Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
Irregular end part of the innermost bone of the 4th toe
Irregular epiphysis of the proximal phalanx of the 4th toe
Increased bone density of end part of the innermost bone of the 4th toe
Ivory epiphysis of the proximal phalanx of the 4th toe
Pseudoepiphysis of the proximal phalanx of the 4th toe
Small end part of the innermost bone of the 4th toe
Small epiphysis of the proximal phalanx of the 4th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.
Speckled calcifications in the end part of the innermost bone of the 4th toe
Stippling of the epiphysis of the proximal phalanx of the 4th toe
Triangular end part of the innermost bone of the 4th toe
Triangular epiphysis of the proximal phalanx of the 4th toe
Absent end part of the outermost bone of the little toe
Absent end part of the outermost bone of the pinkie toe
Absent end part of the outermost bone of the pinky toe
Absent epiphysis of the distal phalanx of the 5th toe
Bracket shaped end part of the outermost bone of the little toe
Bracket shaped end part of the outermost bone of the pinkie toe
Bracket shaped end part of the outermost bone of the pinky toe
Bracket epiphysis of the distal phalanx of the 5th toe
Cone-shaped end part of the outermost bone of the little toe
Cone-shaped end part of the outermost bone of the pinkie toe
Cone-shaped end part of the outermost bone of the pinky toe
Cone-shaped epiphysis of the distal phalanx of the 5th toe
Enlarged end part of the outermost bone of the little toe
Enlarged end part of the outermost bone of the pinkie toe
Enlarged end part of the outermost bone of the pinky toe
Enlarged epiphysis of the distal phalanx of the 5th toe
Fragmentation of the end part of the outermost bone of the little toe
Fragmentation of the end part of the outermost bone of the pinkie toe
Fragmentation of the end part of the outermost bone of the pinky toe
Fragmentation of the epiphysis of the distal phalanx of the 5th toe
Irregular end part of the outermost bone of the little toe
Irregular end part of the outermost bone of the pinkie toe
Irregular end part of the outermost bone of the pinky toe
Irregular epiphysis of the distal phalanx of the 5th toe
Increased bone density of end part of the outermost bone of the little toe
Increased bone density of end part of the outermost bone of the pinkie toe
Increased bone density of end part of the outermost bone of the pinky toe
Ivory epiphysis of the distal phalanx of the 5th toe
Pseudoepiphysis of the distal phalanx of the 5th toe
Small end part of the outermost bone of the little toe
Small end part of the outermost bone of the pinkie toe
Small end part of the outermost bone of the pinky toe
Small epiphysis of the distal phalanx of the 5th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.
Speckled calcifications in the end part of the outermost bone of the little toe
Speckled calcifications in the end part of the outermost bone of the pinkie toe
Speckled calcifications in the end part of the outermost bone of the pinky toe
Stippling of the epiphysis of the distal phalanx of the 5th toe
Triangular end part of the outermost bone of the little toe
Triangular end part of the outermost bone of the pinkie toe
Triangular end part of the outermost bone of the pinky toe
Triangular epiphysis of the distal phalanx of the 5th toe
Absent end part of the middle bone of the little toe
Absent end part of the middle bone of the pinkie toe
Absent end part of the middle bone of the pinky toe
Absent epiphysis of the middle phalanx of the 5th toe
Bracket shaped end part of the middle bone of the little toe
Bracket shaped end part of the middle bone of the pinkie toe
Bracket shaped end part of the middle bone of the pinky toe
Bracket epiphysis of the middle phalanx of the 5th toe
Cone-shaped end part of the middle bone of the little toe
Cone-shaped end part of the middle bone of the pinkie toe
Cone-shaped end part of the middle bone of the pinky toe
Cone-shaped epiphysis of the middle phalanx of the 5th toe
Enlarged end part of the middle bone of the little toe
Enlarged end part of the middle bone of the pinkie toe
Enlarged end part of the middle bone of the pinky toe
Enlarged epiphysis of the middle phalanx of the 5th toe
Fragmentation of the end part of the middle bone of the little toe
Fragmentation of the end part of the middle bone of the pinkie toe
Fragmentation of the end part of the middle bone of the pinky toe
Fragmentation of the epiphysis of the middle phalanx of the 5th toe
Irregular end part of the middle bone of the little toe
Irregular end part of the middle bone of the pinkie toe
Irregular end part of the middle bone of the pinky toe
Irregular epiphysis of the middle phalanx of the 5th toe
Increased bone density of end part of the middle bone of the little toe
Increased bone density of end part of the middle bone of the pinkie toe
Increased bone density of end part of the middle bone of the pinky toe
Ivory epiphysis of the middle phalanx of the 5th toe
Pseudoepiphysis of the middle phalanx of the 5th toe
Small end part of the middle bone of the little toe
Small end part of the middle bone of the pinkie toe
Small end part of the middle bone of the pinky toe
Small epiphysis of the middle phalanx of the 5th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.
Speckled calcifications in end part of the innermost bone of the little toe
Speckled calcifications in end part of the innermost bone of the pinkie toe
Speckled calcifications in end part of the innermost bone of the pinky toe
Stippling of the epiphysis of the middle phalanx of the 5th toe
Triangular end part of the middle bone of the little toe
Triangular end part of the middle bone of the pinkie toe
Triangular end part of the middle bone of the pinky toe
Triangular epiphysis of the middle phalanx of the 5th toe
Absent end part of the innermost bone of the little toe
Absent end part of the innermost bone of the pinkie toe
Absent end part of the innermost bone of the pinky toe
Absent epiphysis of the proximal phalanx of the 5th toe
Bracket shaped end part of the innermost bone of the little toe
Bracket shaped end part of the innermost bone of the pinkie toe
Bracket shaped end part of the innermost bone of the pinky toe
Bracket epiphysis of the proximal phalanx of the 5th toe
Cone-shaped end part of the innermost bone of the little toe
Cone-shaped end part of the innermost bone of the pinkie toe
Cone-shaped end part of the innermost bone of the pinky toe
Cone-shaped epiphysis of the proximal phalanx of the 5th toe
Enlarged end part of the innermost bone of the little toe
Enlarged end part of the innermost bone of the pinkie toe
Enlarged end part of the innermost bone of the pinky toe
Enlarged epiphysis of the proximal phalanx of the 5th toe
Fragmentation of the end part of the innermost bone of the little toe
Fragmentation of the end part of the innermost bone of the pinkie toe
Fragmentation of the end part of the innermost bone of the pinky toe
Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
Irregular end part of the innermost bone of the little toe
Irregular end part of the innermost bone of the pinkie toe
Irregular end part of the innermost bone of the pinky toe
Irregular epiphysis of the proximal phalanx of the 5th toe
Increased bone density of end part of the innermost bone of the little toe
Increased bone density of end part of the innermost bone of the pinkie toe
Increased bone density of end part of the innermost bone of the pinky toe
Ivory epiphysis of the proximal phalanx of the 5th toe
Pseudoepiphysis of the proximal phalanx of the 5th toe
Small end part of the innermost bone of the little toe
Small end part of the innermost bone of the pinkie toe
Small end part of the innermost bone of the pinky toe
Small epiphysis of the proximal phalanx of the 5th toe
The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.
Speckled calcifications in the end part of the innermost bone of the little toe
Speckled calcifications in the end part of the innermost bone of the pinkie toe
Speckled calcifications in the end part of the innermost bone of the pinky toe
Stippling of the epiphysis of the proximal phalanx of the 5th toe
Triangular end part of the innermost bone of the little toe
Triangular end part of the innermost bone of the pinkie toe
Triangular end part of the innermost bone of the pinky toe
Triangular epiphysis of the proximal phalanx of the 5th toe
An abnormal union between bones or parts of bones of the upper limbs.
Fusion involving bones of the upper limbs
Synostosis involving bones of the upper limbs
The abnormal fusion of neighboring bones across a joint.
Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localised unilateral in the skin of the forearm and associated with ipsilateral hand malformations.
Ectopic respiratory mucosa is a very rare finding and has been associated with unilateral skeletal malformation, most commonly with preaxial polydactyly which may be mirror-image like.
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
A sarcoma (from the Greek sarx meaning flesh) is a general term describing a malignant neoplasm, or cancer, that arises from transformed connective tissue cells such as bone, cartilage and fat cells, which originate from embryonic mesoderm. This is in contrast to carcinomas, which are of epithelial origin (breast, colon, pancreas, and others). However, due to an evolving understanding of tissue origin, the term sarcoma is sometimes applied to tumors now known to arise from epithelial tissue. The term soft tissue sarcoma is used to describe tumors of soft tissue, which includes elements that are in connective tissue, but not derived from it (such as muscles and blood vessels).
A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.
A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.
Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.
Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors. Risk factors for desmoid disease amongst FAP patients include female gender, a 3' APC mutation, a positive family history and a history of previous abdominal surgery.
Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.
A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.
Recurrent synchronous diaphragmatic flutter
A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves.
Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.
Hemiballismus is a very rare movement disorder. It is five hundred times rarer than Parkinson disease. Its effects can sometimes be severe enough to prevent patients from being able to perform daily functions. It is usually associated with structural brain lesions but can occur with metabolic abnormalities. The symptoms can also decrease while the patient is asleep, unlike some movement disorders. Ballism refers to very large-amplitude choreic movements of the proximal parts of the limbs, causing flinging and flailing limb movements. Ballism is most frequently unilateral, in which case it is referred to as hemiballism
Deposition of calcium salts in muscle tissue.
Calcium deposition affecting the Meninges.
In general, meningeal calcifications are plaque-like and bilateral as seen on CT-scans.
The presence of mulitple lipomas located in the central nervous system.
An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.
Abnormality of the marrow cavity of the long bones
Abnormality of the medullary cavity of the long bones
Stenosis of the medullary cavity of the long bones
The presence of dysplastic regions in metaphyseal regions.
Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.
Senile plaques can be found in human and animal brains. From an age of 60 years (10%) to an age of 80 years (60%) the proportion of people with plaques increases approximately linearly. A small number of plaques can be due to the physiological process of aging. Women are slightly more likely to have plaques than males. The plaques occur commonly in the amygdoid nucleus and the sulci of the cortex of brain. The deposits are associated with degenerative neural structures and an abundance of microglia and astrocytes. Large numbers of senile plaques and neurofibrillary tangles are characteristic features of Alzheimers disease, and some of the abnormal neurites in senile plaques are composed primarily of paired helical filaments, a component of neurofibrillary tangles. In Alzheimer's disease they are primarily composed of amyloid beta peptides. These polypeptides tend to aggregate and are believed to be neurotoxic.
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen.
A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.
A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.
An abnormality of the structure or form of the tendons, also often called sinews.
A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force.
Fusion of long bones of hand/long bones of foot
The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.
Depression located on the vermilion of the upper lip, usually paramedian.
A lip pit may be connected by a fistula to mucous minor salivary glands in the upper lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
Depression located paramedially on the vermilion of a lip.
A lip pit may be connected by a fistula to mucous minor salivary glands in the upper or lower lip. In addition, a lip pit may on occasion be seen with a surrounding tissue elevation (mound). Pits located at the labial commisure (cheilon) are distinct from lip pits (see Commissural pit).
An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.
Abnormality of dorsoventral patterning of the limbs
Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.
A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.
Branchial sinuses have to be distinguished from the preauricular cysts and sinuses, which are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral, and are localized anterior to the tragus of the ear.
Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.
The aberrant innervation leading to this phenomenon may be seen for example as a hereditary trait in some patients with Branchio-oto-renal (BOR) syndrome in which case it may occur unilateral or bilateral, but it may also result from a secondary aberrant reinnervation following a peripheral facial palsy, in which case it is associated with uncontrollable ipsilateral tearing. In the past gustatory lacrimation was considered to be a very rare non-hereditary type of anomalous, cranial nerve-end organ innervation but rare occurences in patients with Branchio-oto-renal (BOR) syndrome have shown, that this feature may also appear as a hereditary condition.
Diffuse unlocalised atrophy affecting the cerebellum.
A small, skin-lined tract that leads from the surface to deep within the tissues.
Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.
A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
A chronic inflammatory disease of the large intestine (colon, cecum and rectum).
An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).
Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.
The motor unit contains an anterior horn cell, its axon, and all of the muscle fibers that it innervates via the neuromuscular junction. Note that a healthy relaxed muscle does not show significant EMG activity at rest.
EMG: continuous motor unit activity at rest
High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.
An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).
EMG: impaired neuromuscular transmission
The presence of reduced conduction velocity of motor nerves on electromyography.
The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.
Abnormality of pattern reversal visual evoked potentials
Abnormality of peripheral somatosensory evoked potentials
Abnormality of central somatosensory evoked potentials
The presence of amyloid deposition in the nerves of the peripheral nervous system.
This should have logical def changed to reference a generic muscle fiber but this is not yet in CL.
Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.
The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.
Muscle fiber cytoplasmatic inclusion bodies
The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.
Muscle fiber intranuclear inclusion bodies
Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.
Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.
Hemorrhage occurring between the dura mater and the arachnoid mater.
Usually resulting from tears in veins that cross the subdural space, subdural hemorrhage may cause an increase in intracranial pressure, which can cause compression of and damage to delicate brain tissue. Subdural hematomas are often life-threatening when acute, but chronic subdural hematomas are usually not deadly if treated.
Hemorrhage occurring between the dura mater and the skull.
Intracranial bleeding occuring between the dura mater (the tough outer membrane of the central nervous system) and the skull. The dura mater also covers the spine, so epidural bleeds may also occur in the spinal column.
The presence of a germ cell tumor of the cerebrum.
Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.
Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.
Inclusion bodies are usually derived from proteins.
Intracellular aggregates of actin and actin-associated proteins within nerve cells.
Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.
An intraneuronal inclusion body composed of acid mucopolysaccharides.
Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.
Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.
Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.
Causes may be rapid growth, heredity, trauma or overuse and anatomic conformation.
A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.
A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease.
Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens.
Hypersensitivity in form of an adverse immune reaction against cow milk protein.
Immunoglobulin E-mediated cow milk allergy
Fusion involving carpal and metacarpal bones.
Fused wrist bones and long bones of hand
A non-midline cleft of the upper lip on one side only.
Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.
A non-midline cleft of the upper lip on the left and right sides.
Nonmidline cleft palate on the left and right sides.
The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.
Contracture of the proximal interphalangeal joint of the 2nd toe
The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.
Contracture of the proximal interphalangeal joint of the 3rd toe
The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.
Contracture of the innermost hinge joint of the 4th toe
Contracture of the proximal interphalangeal joint of the 4th toe
The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.
Contractures of the proximal interphalangeal joint of the 5th toe
The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.
Contracture of the distal interphalangeal joint of the second toe
Contracture of the distal interphalangeal joint of the 2nd toe
The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.
Contracture of the distal interphalangeal joint of the 3rd toe
The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.
Contracture of the distal interphalangeal joint of the 4th toe
The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.
Contracture of the outermost hinge joint of the 5th toe
Contractures of the distal interphalangeal joint of the 5th toe
The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.
Contracture of the metatarsophalangeal joint of the 2nd toe
The joint between the second metatarsal and the proximal phalanx of the 3rd toe cannot be straightened actively or passively.
Contracture of the metatarsophalangeal joint of the 3rd toe
The joint between the second metatarsal and the proximal phalanx of the 4th toe cannot be straightened actively or passively.
Contracture of the metatarsophalangeal joint of the 4th toe
The joint between the second metatarsal and the proximal phalanx of the 5th toe cannot be straightened actively or passively.
Contracture of the metatarsophalangeal joint of the 5th toe
Contractures of the joints of the upper limbs
Developmental hypoplasia of the phalanx of third toe.
Hypoplastic/small phalanges of the 3rd toe
Developmental hypoplasia of one or more phalanx of fourth toe.
Hypoplastic/small phalanges of the 4th toe
Developmental hypoplasia of one or more phalanx of little toe.
Hypoplastic/small phalanges of the 5th toe
Absent/underdeveloped outermost 3rd toe bone
Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
Absent/underdeveloped outermost bone of 4th toe
Aplasia/Hypoplasia of the distal phalanx of the 4th toe
Absent/underdeveloped outermost pinky toe bone
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Absent/underdeveloped middle 3rd toe bone
Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
Absent/underdeveloped middle bone of the 4th toe
Aplasia/Hypoplasia of the middle phalanx of the 4th toe
Absent/underdeveloped middle bone of little toe
Absent/underdeveloped middle bone of pinkie toe
Absent/underdeveloped middle bone of pinky toe
Aplasia/Hypoplasia of the middle phalanx of the 5th toe
Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 3rd toe.
Absent/underdeveloped innermost bone of 3rd toe
Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 4th toe.
Absent/underdeveloped innermost 4th toe bone
Aplasia/hypoplasia of the proximal phalanx of the 4th toe
Absence (agenesis) or underdevelopment of one or more of the proximal phalanges of the 5th toe.
Absent/underdeveloped innermost 5th toe bone
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
Developmental aplasia of the distal phalanx of third toe.
Aplasia of the distal phalanx of the 3rd toe
Aplasia of the distal phalanx of the 4th toe
Aplasia of the distal phalanx of the 5th toe
Developmental aplasia of the middle phalanx of third toe.
Aplasia of the middle phalanx of the 3rd toe
Aplasia of the middle phalanx of the 4th toe
Aplasia of the middle phalanx of the 5th toe
Absence of proximal phalanx of third toe, owing to a congenital defect of development.
Aplasia of the proximal phalanx of the 3rd toe
Aplasia of the proximal phalanx of the 4th toe
Aplasia of the proximal phalanx of the 5th toe
Aplasia of the middle phalanges of the toes
Aplasia of the proximal phalanges of the toes
Developmental hypoplasia of the distal phalanx of third toe.
Hypoplastic/small distal phalanx of the 3rd toe
Developmental hypoplasia of the distal phalanx of fourth toe.
Hypoplastic/small distal phalanx of the 4th toe
Developmental hypoplasia of the distal phalanx of little toe.
Hypoplastic/small distal phalanx of the 5th toe
Developmental hypoplasia of the middle phalanx of third toe.
Hypoplastic/small middle phalanx of the 3rd toe
Developmental hypoplasia of the middle phalanx of fourth toe.
Hypoplastic/small middle phalanx of the 4th toe
Developmental hypoplasia of the middle phalanx of the 5th toe.
Hypoplastic/small middle phalanx of the 5th toe
Abnormal reduction in length of proximal phalanx of third toe.
Hypoplastic/small proximal phalanx of the 3rd toe
Developmental hypoplasia of the proximal phalanx of fourth toe.
Hypoplastic/small proximal phalanx of the 4th toe
Short proximal phalanx of the fourth toe
Developmental hypoplasia of the proximal phalanx of fifth toe.
Hypoplastic/small proximal phalanx of the 5th toe
Partial or complete duplication of distal phalanx of third toe.
Duplication of the distal phalanx of the third toe
Duplication of the outermost bone of the 3rd toe
Partial/complete duplication of the distal phalanx of the 3rd toe
Duplication of the distal phalanx of the 3rd toe
Partial or complete duplication of the distal phalanx of fourth toe.
Duplication of the distal phalanx of the fourth toe
Duplication of the outermost bone of the 4th toe
Partial/complete duplication of the distal phalanx of the 4th toe
Duplication of the distal phalanx of the 4th toe
Partial or complete duplication of the distal phalanx of little toe.
Duplication of the distal phalanx of the fifth toe
Duplication of the outermost bone of the fifth toe
Duplication of the outermost bone of the little toe
Duplication of the outermost bone of the pinkie toe
Duplication of the outermost bone of the pinky toe
Partial/complete duplication of the distal phalanx of the 5th toe
Duplication of the distal phalanx of the 5th toe
Partial or complete duplication of middle phalanx of third toe.
Duplication of the middle bone of the 3rd toe
Duplication of the middle phalanx of the third toe
Partial/complete duplication of the middle phalanx of the 3rd toe
Duplication of the middle phalanx of the 3rd toe
Partial or complete duplication of middle phalanx of fourth toe.
Duplication of the middle bone of the 4th toe
Duplication of the middle phalanx of the fourth toe
Partial/complete duplication of the middle phalanx of the 4th toe
Duplication of the middle phalanx of the 4th toe
Partial or complete duplication of the middle phalanx of the 5th toe.
Duplication of the middle bone of the little toe
Duplication of the middle bone of the pinkie toe
Duplication of the middle bone of the pinky toe
Duplication of the middle phalanx of the fifth toe
Partial/complete duplication of the middle phalanx of the 5th toe
Duplication of the middle phalanx of the 5th toe
Partial or complete duplication of proximal phalanx of third toe.
Duplication of the innermost 3rd toe bone
Duplication of the proximal phalanx of the third toe
Partial/complete duplication of the proximal phalanx of the 3rd toe
Duplication of the proximal phalanx of the 3rd toe
Partial or complete duplication of the proximal phalanx of fourth toe.
Duplication of the innermost 4th toe bone
Duplication of the proximal phalanx of the fourth toe
Partial/complete duplication of the proximal phalanx of the 4th toe
Duplication of the proximal phalanx of the 4th toe
Partial or complete duplication of the proximal phalanx of fifth toe.
Duplication of the innermost bone of the little toe
Duplication of the innermost bone of the pinkie toe
Duplication of the innermost bone of the pinky toe
Duplication of the proximal phalanx of the fifth toe
Partial/complete duplication of the proximal phalanx of the 5th toe
Duplication of the proximal phalanx of the 5th toe
Complete duplication of distal phalanx of third toe.
Complete duplication of the distal phalanx of the third toe
Complete duplication of the outermost bone of the 3rd toe
Complete duplication of the distal phalanx of the 3rd toe
Complete duplication of the distal phalanx of fourth toe.
Complete duplication of the distal phalanx of the fourth toe
Complete duplication of the outermost bone of the 4th toe
Complete duplication of the distal phalanx of the 4th toe
Complete duplication of the distal phalanx of little toe.
Complete duplication of the distal phalanx of the fifth toe
Complete duplication of the outermost bone of the little toe
Complete duplication of the outermost bone of the pinkie toe
Complete duplication of the outermost bone of the pinky toe
Complete duplication of the distal phalanx of the 5th toe
Complete duplication of middle phalanx of third toe.
Complete duplication of the middle bone of the 3rd toe
Complete duplication of the middle phalanx of the third toe
Complete duplication of the middle phalanx of the 3rd toe
Complete duplication of middle phalanx of fourth toe.
Complete duplication of the middle bone of the 4th toe
Complete duplication of the middle phalanx of the fourth toe
Complete duplication of the middle phalanx of the 4th toe
Complete duplication of the middle phalanx of the 5th toe.
Complete duplication of the middle bone of the little toe
Complete duplication of the middle bone of the pinkie toe
Complete duplication of the middle bone of the pinky toe
Complete duplication of the middle phalanx of the fifth toe
Complete duplication of proximal phalanx of third toe.
Complete duplication of the innermost 3rd toe bone
Complete duplication of the proximal phalanx of the 3rd toe
Complete duplication of the innermost 4th toe bone
Complete duplication of the proximal phalanx of the 4th toe
Complete duplication of the proximal phalanx of fifth toe.
Complete duplication of the innermost bone of the little toe
Complete duplication of the innermost bone of the pinkie toe
Complete duplication of the innermost bone of the pinky toe
Complete duplication of the proximal phalanx of the fifth toe
Complete duplication of the proximal phalanx of the 5th toe
Partial duplication of distal phalanx of third toe.
Partial duplication of the distal phalanx of the third toe
Partial duplication of the outermost bone of the 3rd toe
Partial duplication of the distal phalanx of the 3rd toe
Partial duplication of the distal phalanx of fourth toe.
Partial duplication of the distal phalanx of the fourth toe
Partial duplication of the outermost bone of the fourth toe
Partial duplication of the distal phalanx of the 4th toe
Partial duplication of the distal phalanx of little toe.
Partial duplication of the distal phalanx of the fifth toe
Partial duplication of the outermost bone of the fifth toe
Partial duplication of the outermost bone of the little toe
Partial duplication of the outermost bone of the pinkie toe
Partial duplication of the outermost bone of the pinky toe
Partial duplication of the distal phalanx of the 5th toe
Partial duplication of middle phalanx of third toe.
Partial duplication of the middle bone of 3rd toe
Partial duplication of the middle phalanx of the third toe
Partial duplication of the middle phalanx of the 3rd toe
Partial duplication of middle phalanx of fourth toe.
Partial duplication of the middle bone of the 4th toe
Partial duplication of the middle phalanx of the fourth toe
Partial duplication of the middle phalanx of the 4th toe
Partial duplication of the middle phalanx of the 5th toe.
Partial duplication of the middle bone of the little toe
Partial duplication of the middle bone of the pinkie toe
Partial duplication of the middle bone of the pinky toe
Partial duplication of the middle phalanx of the fifth toe
Partial duplication of proximal phalanx of third toe.
Partial duplication of the innermost bone of 3rd toe
Partial duplication of the proximal phalanx of the third toe
Partial duplication of the proximal phalanx of the 3rd toe
Partial duplication of the innermost bone of 4th toe
Partial duplication of the proximal phalanx of the 4th toe
Partial duplication of the proximal phalanx of fifth toe.
Partial duplication of the innermost bone of the little toe
Partial duplication of the innermost bone of the pinkie toe
Partial duplication of the innermost bone of the pinky toe
Partial duplication of the proximal phalanx of the fifth toe
Partial duplication of the proximal phalanx of the 5th toe
An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle bone of the 3rd toe
Bullet-shaped middle phalanx of the 3rd toe
An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle bone of the 4th toe
Bullet-shaped middle phalanx of the 4th toe
An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped middle bone of the little toe
Bullet-shaped middle bone of the pinkie toe
Bullet-shaped middle bone of the pinky toe
Bullet-shaped middle phalanx of the 5th toe
An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped proximal bone of the 3rd toe
Bullet-shaped proximal phalanx of the 3rd toe
An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped proximal bone of the 4th toe
Bullet-shaped proximal phalanx of the 4th toe
An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped innermost bone of little toe
Bullet-shaped innermost bone of pinkie toe
Bullet-shaped innermost bone of pinky toe
Bullet-shaped proximal phalanx of the 5th toe
An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped outermost bone of the 3rd toe
Bullet-shaped distal phalanx of the 3rd toe
An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped outermost bone of the 4th toe
Bullet-shaped distal phalanx of the 4th toe
An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.
Bullet-shaped outermost bone of the little toe
Bullet-shaped outermost bone of the pinkie toe
Bullet-shaped outermost bone of the pinky toe
Bullet-shaped distal phalanx of the 5th toe
A deviation from the normal straight form of the middle phalanx of the third toe.
A deviation from the normal straight form of the middle phalanx of the fourth toe.
A deviation from the normal straight form of the middle phalanx of the fifth toe.
A deviation from the normal straight form of the proximal phalanx of the third toe.
A deviation from the normal straight form of the proximal phalanx of the fourth toe.
A deviation from the normal straight form of the proximal phalanx of the fifth toe.
A deviation from the normal straight form of the distal phalanx of the third toe.
A deviation from the normal straight form of the distal phalanx of the fourth toe.
A deviation from the normal straight form of the distal phalanx of the fifth toe.
Osteolytic defects of the middle phalanx of the 3rd toe
Osteolytic defects of the middle phalanx of the 4th toe
Osteolytic defects of the middle phalanx of the 5th toe
Osteolytic defects of the proximal phalanx of the 3rd toe
Osteolytic defects of the proximal phalanx of the 4th toe
Osteolytic defects of the proximal phalanx of the 5th toe
Osteolytic defects of the outermost bone of the 3rd toe
Osteolytic defects of the distal phalanx of the 3rd toe
Osteolytic defects of the outermost bone of the 4th toe
Osteolytic defects of the distal phalanx of the 4th toe
Osteolytic defects of the outermost bone of the 5th toe
Osteolytic defects of the distal phalanx of the 5th toe
Uneven increase in bone density in the middle bone of the 3rd toe
Patchy sclerosis of the middle phalanx of the 3rd toe
Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in middle bone of the 4th toe
Patchy sclerosis of the middle phalanx of the 4th toe
Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in the middle bone of the little toe
Uneven increase in bone density in the middle bone of the pinkie toe
Uneven increase in bone density in the middle bone of the pinky toe
Patchy sclerosis of the middle phalanx of the 5th toe
Uneven increase in bone density in the innermost bone of the 3rd toe
Patchy sclerosis of the proximal phalanx of the 3rd toe
Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in the innermost bone of the 4th toe
Patchy sclerosis of the proximal phalanx of the 4th toe
Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in the innermost bone of the little toe
Uneven increase in bone density in the innermost bone of the pinkie toe
Uneven increase in bone density in the innermost bone of the pinky toe
Patchy sclerosis of the proximal phalanx of the 5th toe
Uneven increase in bone density in the outermost bone of the 3rd toe
Patchy sclerosis of the distal phalanx of the 3rd toe
Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in the outermost bone of the 4th toe
Patchy sclerosis of the distal phalanx of the 4th toe
Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.
Uneven increase in bone density in the outermost little toe bone
Uneven increase in bone density in the outermost pinkie toe bone
Uneven increase in bone density in the outermost pinky toe bone
Patchy sclerosis of the distal phalanx of the 5th toe
Symphalangism affecting the middle phalanx of the 3rd toe
Symphalangism affecting the middle phalanx of the 4th toe
Symphalangism affecting the middle phalanx of the 5th toe
Symphalangism affecting the proximal phalanx of the 3rd toe
Symphalangism affecting the proximal phalanx of the 4th toe
Symphalangism affecting the proximal phalanx of the 5th toe
Symphalangism affecting the distal phalanx of the 3rd toe
Symphalangism affecting the distal phalanx of the 4th toe
Symphalangism affecting the distal phalanx of the 5th toe
Bony fusion of the middle and proximal phalanges of the 3rd toe.
Fused innermost and middle bones of 3rd toe
Symphalangism of the middle and proximal phalanges of the 3rd toe
Proximal/middle symphalangism of 3rd toe
Bony fusion of the middle and proximal phalanges of the 4th toe.
Fused innermost and middle bones of 4th toe
Symphalangism of the middle and proximal phalanges of the 4th toe
Proximal/middle symphalangism of 4th toe
Bony fusion of the middle and proximal phalanges of the 5th toe.
Fused innermost and middle little toe bones
Fused innermost and middle pinkie toe bones
Fused innermost and middle pinky toe bones
Symphalangism of the middle and proximal phalanges of the 5th toe
Proximal/middle symphalangism of 5th toe
Fused innermost bone of 2nd toe with the 2nd long bone of foot
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
Fused innermost bones of third toe with 3rd long bone of foot
Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
Fused innermost bone of the 4th toe with 4th long bone of foot
Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
Fused innermost pinky toe bone with the 5th long bone of foot
Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
Triangular shaped outermost bone of the little toe
Triangular shaped outermost bone of the pinkie toe
Triangular shaped outermost bone of the pinky toe
Triangular shaped distal phalanx of the 5th toe
Fusion of the innermost big toe bone with the 1st long bone of foot
Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
Bony fusion of the middle and proximal phalanges of the 2nd toe.
Fused middle and innermost bones of 2nd toe
Symphalangism of the middle and proximal phalanges of the 2nd toe
Proximal/middle symphalangism of 2nd toe
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.
Camptodactyly of proximal interphalangeal joint
Contractures of the proximal interphalangeal joints of the fingers
Flexion contractures of proximal interphalangeal joints
Proximal interphalangeal finger joint contractures
Note that some restrict the use of the term to inability to extend the proximal interphalangeal joint of the fifth finger. We do not restrict the term in this way. This term should not be used if the patient has Clenched hand. A similar effect can be created by radial angulation within the distal phalanx with thickening of the epiphysis, which is called Kirner deformity or dystelephalangy. The affected digits should be specified.
Abnormality of the joints of the lower limbs
Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.
Joint contractures involving the joints of the feet
A decreased concentration of ammonia in the blood.
Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.
Mast cells (or mastocytes) can be found in several types of tissues and contain many granules rich in histamine and heparin. Although best known for their role in allergy and anaphylaxis, mast cells play an important protective role as well, being intimately involved in wound healing and defense against pathogens. Mast cells possess a non-lobed nucleus and can work with basophils in the immune defense against worms. Their cell membrane is covered with Fc recepros that may be attached to class E antibodies.
The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.
Abnormality of the vitamin B3 metabolism
Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients.
An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.
A reduced circulating concentration of folic acid, which is also known as vitamin B9.
An anomaly in the metabolism of a vitamin.
Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes.
The presence of a neoplasm of the ureter.
The presence of a neoplasm of the urethra.
Absence of urine, clinically classified as below 50ml/day.
Low output of urine, clinically classified as an output below 300-500ml/day.
The decreased output of urine may be a sign of dehydration, renal failure, hypovolemic shock, multiple organ dysfunction syndrome, or urinary obstruction/urinary retention.
A tumor (abnormal growth of tissue) of the thymus.
A tumor originating from the epithelial cells of the thymus.
Malignant lymphomas that involve the thymus, such as lymphoblastic lymphoma and Hodgkin lymphoma (erroneously termed "granulomatous thymoma" in the past), should not be regarded as thymomas. Thymoma is an uncommon tumor, best known for its association with the neuromuscular disorder myasthenia gravis. Thymoma is found in 15% of patients with myasthenia gravis.
The presence of an abscess of the liver.
Congenital duplication of all or part of a limb.
Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.
A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.
An abnormality of phosphate homeostasis or concentration in the body.
Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.
Abnormal Ca-PHOS regulating hormone level
Abnormal Ca2+ PO4 regulating hormone level
Abnormal calcium-phosphate regulating hormone level
The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.
Inflammation of the outer white part of the eye
Scleritis may be accompanied by blurred vision, eye pain, redness of the (normally white) sclera, photophobia, and tearing.
Inflammation of the eye, parts of the eye or the periorbital region.
Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.
Inflammation of the thin layer on top of the white part of eye
In contrast to conjunctivitis, with episcleritis the inflammation is generally limited to isolated parts of the sclera and is not diffuse.One can observe dilated episcleral blood vessels between regions of white sclera.
Inflammation of fascia, the tissue under the skin and over the muscle.
An anomaly of the supraorbital portion of the frontal bones.
Malformation of the supraorbital margins
Edema affecting the region situated around the orbit of the eye.
A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.
Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. Femoral hernia appears as a bulge in the upper thigh.
Abnormality in the process of thought including the ability to process information.
A tumor (abnormal growth of tissue) of the heart.
Narrowing or constriction of the inner surface (lumen) of an artery.
Carotid artery stenosis is usually caused by caused by atherosclerosis.
An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.
Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.
Tendon rupture is usually painful,and accompanied by swelling, inability to move, and bunching up of the muscle normally attached to the tendon.
A growth pattern that displays an abnormal difference between the left and the right side.
Uneven or disproportionate growth of one body part compared to another
Undergrowth of the limbs that affects only one side.
Unilateral atrophy (reduction in size) of a leg.
Unilateral atrophy (reduction in size) of an arm.
A difference in length or diameter between the left and right leg.
Left and right leg differ in length or width
Difference in length or size between the right and left arm.
Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.
Triplication of the spinal cord - extremely rare.
Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.
A tumor (abnormal growth of tissue) of the endocrine system.
An abnormality of the formation and mineralization of one or more vertebrae.
Abnormality of ossification/mineralisation of vertebrae
A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.
A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.
A tumor (abnormal growth of tissue) of the biliary system.
The presence of a neoplasm of the gallbladder.
A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.
This may occur as a result of subcutanous injections of insulin in the treatment of diabetes, from the use of human growth hormone or from subcutanous injections of Copaxone used for the treatment of multiple sclerosis. In the latter case, an injection may produce a small dent at the injection site. Lipoatrophy is also an adverse drug reaction that is associated with some antiretroviral drugs.
Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.
An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.
The medical significance of Barrett esophagus is its strong association with esophageal adenocarcinoma, a particularly lethal cancer.
An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.
Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.
A rupture of the cornea through which a portion of the iris protrudes.
An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.
Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.
Leukocyturia without bacterial growth upon urine culture.
The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.
The presence of a fistula affecting the genitourinary system.
The presence of a fistula affecting the rectum.
The presence of an abscess of the peritoneum.
Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).
An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.
The nostrils (the paired channels of the nose) are not present.
Two penile structures, separated from the tip to the base of the shaft.
In individuals with complete duplication often one will find Hypospadias, Epispadias, Bladder exstrophy, or Bifid scrotum, which should be coded separately, as well as urinary tract duplications, renal anomalies, and gastrointestinal duplications. The terms indicate the presence of (part of) two penises, but do not indicate whether they are caused by splitting or double formation.
A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.
An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.
Pregnancy-induced hypertension in association with significant amounts of protein in the urine.
Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.
A tumor (abnormal growth of tissue) of the lip.
A tumor (abnormal growth of tissue) of the respiratory system.
Pain during menstruation that interferes with daily activities.
A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.
High blood phenylalanine level in mother
The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.
Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney refers to a kidney with greater than 5% cystic glomeruli.
Neoplasm involving odontogenic cells, an odontogenic tumor.
Examples for odontogenic neoplasia are Adenomatoid odontogenic tumors, Ameloblastomas, Calcifying epithelial odontogenic tumors, Calcifying odontogenic cysts, Dentigerous cysts, Odontogenic keratocysts, Dontogenic myxomas, Odontomas.
Death between the age of 16 and 40 years.
A general term for inflammation of the muscles without respect to the underlying cause.
Many such conditions are considered likely to be caused by autoimmune conditions, rather than directly due to infection, although autoimmune conditions can be activated or exacerbated by infections. It is also a documented side effect of the lipid-lowering drugs such as statins and fibrates. Elevation of creatine kinase in blood is indicative of myositis.
A tumor (abnormal growth of tissue) of the ovary.
The presence of a teratoma of the testis.
An encapsulated tumor of the testis with tissue or organ components resembling normal derivatives of all three germ layers.
The presence of a seminoma, an undifferentiated germ cell tumor of the testis.
The presence of a neoplasm of the testis with origin in a Leydig cell.
The presence of a neoplasm of the testis with origin in a Sertoli cell.
A type of undifferentiated germ cell tumor that may be benign or malignant.
The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Displacement of the external urethral orifice
Displacement of the male external urethral orifice
Congenital misplacement of the urethral orifice is called hypospadias when it is located in the underside (ventral aspect) of the penis, and epispadias when located in the dorsum (upper aspect).
The presence of a diverticulum of the esophagus.
A diverticulum is a blind ended outpouching through the wall of a tubular organ or bounded cavity.
A congenital malformation with a cleft (gap or opening) in the midline of the face.
Midline facial clefts correspond to Tessier number 0,14, and 30.
A tumor (abnormal growth of tissue) of the adrenal gland.
The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).
A tumor that originates from a neuroendocrine cell.
Neuroendocrine tumors are often diagnosed incidentally or when patients present with symptoms related to hormone production and/or tumor burden.
A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.
Tumors of pharynx may present with nonspecific findings such as otalgia or unilateral otitis media.
Presence of a cyst (sac-like structure) located in the larynx.
The presence of a neoplasm of the adrenal cortex.
The presence of a neoplasm of the adrenal medulla.
Brown or black discoloration of the nails.
Anterior vaginal wall prolapse with bulging of the bladder into the vagina.
Cystocele occurs owing to weakening and stretching of the suppoortive tissue between the bladder and the vaginal wall.
An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.
A tumor (abnormal growth of tissue) of the tongue.
A tumor (abnormal growth of tissue) of the oral cavity.
A tumor (abnormal growth of tissue) of the vagina.
A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.
The onset of type 1 diabetes is typically during adolescence, but it can develop at any age.
Optic neuritis can cause loss of vision because of swelling and destruction of the myelin sheath covering the optic nerve and/or direct axonal damage.
Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.
Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.
May be accompanied by thoracic ectopia cordis and gastroschisis.
Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.
A bacterial infection and inflammation of the skin und subcutaneous tissues.
In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue.
Abnormality of the cerebral blood vessels
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Disorder of involuntary muscle movements
A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.
A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
Apart from the common form, mediated by allergy, it has been reported as a side effect of some medications, in particular ACE inhibitors. Additionally, there are three autosomal dominant inherited forms known, due to mutations in the genes that control the clotting cascade, including the SERPING1 gene, which results in deficiency of the blood protein C1-inhibitor (type I HAE) and the F12 gene, which controls Factor XII (type III HAE). There is an additional type in which C1 levels are normal but C1 function is decreased (type II HAE). All three forms are called hereditary angioedema (HAE) or occasionally by the outdated term 'hereditary angioneurotic edema' (HANE). In all forms of HAE, swelling may also occur in the digestive tract and other organs. It is life-threatening when it involves the larynx due to the potential for asphyxiation.
A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.
An abnormality of the pigmentation of the mucosa of the mouth.
Abnormal pigmentation of oral mucous membrane
Abnormal pigmentation of the oral mucosa/gingivae
Abnormal pigmentation of the oral mucosa
Abnormal structure or form of trabecular bone.
Varicosity of veins in the vulval region.
The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.
A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.
Esophageal duplication is a rare cause of mediastinal mass. An esophageal duplication may be a simple epithelial cyst or duplication that contains muscle and submucosa but not epithelium. In most cases, the duplication is located in the lower thrid of the esophagus, and the most common associated symptom is difficulty in swallowing. Esophageal duplication occurs because of maldevelopment of the posterior division of embryonic foregut.
A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.
Diagnosis can be made if the neonate presents with respiratory distress at birth, unable to produce an audible cry in spite of an obvious physical effort, and cannot be intubated but shows some improvement when ventilated by bag and mask.
A tumor (abnormal growth of tissue) of a salivary gland.
An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibres connecting periosteum to bone.
The presence of an extra auricle on one or both sides of the head.
A decreased anteroposterior thickness of the cornea.
Abnormality of the curvature of the cornea
An increase in the degree of curvature of the cornea compared to normal.
Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.
Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia.
Normally, lateral rotation of the tibia increases from approximately 5 degrees at birth to approximately 15 degrees at maturity. Tibial torsion is the most common cause of intoeing. In a study by Mullaji et al to determine tibial torsion norms, individuals in India were found to have less tibial torsion than Caucasians but about the same amount as the Japanese population. The differences in normal tibial torsion values are expected to be caused by the different lifestyles and postures of the different populations, such as cross-legged sitting positions.
Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .
The pattern of fat deposition is most often bilateral, symmetrical and usually from the waist to a distinct line just above the ankles.
A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.
About half the cases are diagnosed in people with neurofibromatosis.
The presence of Neurofibromas in the subcutis.
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Fluid-filled sac located in membrane surrounding brain or spinal cord
Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural.
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
The term cortical/cerebral visual impairment (CVI) was coined to describe damage to visual pathways and structures occurring during early perinatal development. The term cortical visual impairment was originally proposed to describe visual dysfunction in pediatric populations of non-ocular cause, and its presumed association with damage to early visual cortical areas. However, as further characterization of this condition progressed, it became evident that CVI was often associated with damage to sites beyond early visual cortex including subcortical structures, white matter pathways, as well as higher-order associative processing areas of the cortex. Thus, the word cortical has been viewed as somewhat of a misnomer, and there has been the suggestion that the term cerebral would be a more encompassing and appropriate term. Although there is still a debate in the community about the most appropriate nomenclature, the HPO will regard these terms as synonymous. It is recommended that more specific terms be used as appropriate for annotation.
Glia are nonneuronal cells of the nervous system that provide physical support, respond to injury, regulate the composition of the extracellular milieu, guide neuronal migration during development, and exchange metabolites with neurons.
One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.
Astrocytes represent a class of large neuroglial (macroglial) cells in the central nervous system.
An abnormality of the microglial cells. They are also known as brain-resident macrophages or hortega cells.
Microglial cells represent a central nervous system macrophage found in the parenchyma of the central nervous system.
Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress.
An abnormality of the thoracic vertebral column.
An abnormality of the lumbar vertebral column.
A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.
Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.
An abnormality of coagulation associated with an increased risk of thrombosis.
Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.
A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).
An excessive number of histiocytes (tissue macrophages).
A rare congenital cystic lesion of the lungs in the mediastinum.
Bronchogenic cysts (BCs) are congenital lesions thought to result from abnormal budding of the embryonic foregut. The most frequent symptoms are pain, cough, fever, respiratory distress, or dyspnea. Intrapulmonary bronchogenic cysts are usually sharply defined, solitary, non-calcified, round, or oval opacities confined to a single lobe. These can present as a homogeneous water density, an air- filled cyst, or with an air-fluid level. The cyst can rupture into the trachea, pericardial cavity, or pleural cavity. Infection of the cyst may lead to surrounding acinar shadow. An air-filled cyst or one with an air-fluid level may be present if a complicating tracheo-bronchial connection develops.
A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.
Usually, these clefts are unilateral and do not extend beyond the anterior border of the masseter. Transverse clefts are thought to develop either due to failure of the maxillary and mandibular processes to fuse or a disruption in the processes after fusing.
A tumor (abnormal growth of tissue) of the parathyroid gland.
An anomaly of one or more epiphyses of one or more vertebrae.
Abnormal shape of the end part of the vertebra bone
Abnormality of vertebral epiphysis morphology
Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption.
Note that this HPO term refers to an abnormal eating habit but does not directly refer to an eating disorder, which is a psychological disorder that is characterized by one or more abnormal eating behaviors.
A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).
A benign or malignant neoplasm (tumour) originating in the vascular system.
An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.
A type of Macrodactyly affecting one or several fingers.
A type of Macrodactyly affecting one or several toes.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Collapse of part of a lung associated with absence of inflation (air) of that part.
Partial or complete collapse of part or entire lung
A tumor (abnormal growth of tissue) of the esophagus.
Formation of abnormal lobules (small masses of tissue) in the liver.
A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%.
Positive symptoms, such as delusions and hallucinations (especially of voices), are common, and any Schneiderian first-rank symptoms are particularly indicative of the illness. Negative symptoms include social withdrawal, impairment of ego boundaries, and loss of energy and initiative. Schizophrenia is diagnosed only if symptoms persist for at least one month. The illness can spontaneously remit, run a course with infrequent or frequent relapses, or become chronic. The prognosis has improved with antipsychotic drugs and with vigorous psychological and social management and rehabilitation. The many causes include genetic factors, environmental stress, and various triggering factors.
A state of abnormally elevated or irritable mood, arousal, and or energy levels.
A rare pediatric carcinoma of the pancreas.
A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).
Death of body tissue due to lack of blood flow or infection
This may occur after an injury or infection, or in people suffering from any chronic health problem affecting blood circulation. The prime cause of gangrene is reduced blood supply to the affected tissues, which results in cell death. Diabetes and long-term smoking increase the risk of suffering from gangrene. There are different types of gangrene with different symptoms, such as dry gangrene, wet gangrene, gas gangrene, internal gangrene and necrotising fasciitis. Treatment options include debridement (or, in severe cases, amputation) of the affected body parts, antibiotics, vascular surgery, maggot therapy or hyperbaric oxygen therapy.
Terminal broadening of the fingers (distal phalanges of the fingers).
Terminal broadening of the toes (distal phalanges of the toes).
An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.
Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.
A structural anomaly of the vessel that contains or conveys lymph fluid.
An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.
A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.
Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.
Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.
Excessive growth or abnormal thickening of bone tissue.
Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density).
A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.
Dural ectasia is one of the major manifestations of Marfan syndrome. It may cause low back pain, headaches and neurological signs such as weakness and loss of bowel and bladder function, but in many patients it is asymptomatic. It is also a cause of posterior vertebral scalloping present in radiographs in patients who are diagnosed with Neurofibromatosis. Dural ectasia may also manifest in Ehlers-Danlos Syndrome, cauda equina syndrome and in ankylosing spondylitis.
An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.
An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Formation of new noncancerous bone on top of existing bone
Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.
A rare birth defect in women where the urethra and vagina both open into a common channel.
A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.
Failure to develop and congenital absence of the breast.
Lack of separation of the upper and lower lips.
A bony protrusion present on the midline of the hard palate.
The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.
Acantolysis results in a positive Nikolsky's sign in which slight rubbing of the skin results in exfoliation of the outermost layer.
The absence of the normal curvature of the vertebral column.
An abnormality of the development of the toenails.
An abnormality of the development of the fingernails.
If possible, a more precise term should be chosen for annotation.
A tumor (abnormal growth of tissue) of the middle ear.
A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.
Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.
An abnormality of the region around the nails of the fingers or toes.
Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold ) or subungual (originating under the nail plate).
Ungual fibromas are characteristic of tuberous sclerosis.
Systemic inflammatory response to infection.
The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.
Gastric diverticulum may be asymptomatic or may present with a vague sensation of fullness or discomfort in the upper abdomen, or with acute upper gastrointestinal bleed or perforation.
Pain or discomfort of the scalp elicited by palpation.
Congenital absence or underdevelopment of the colon.
Noticeably unpleasant odors exhaled in breathing.
Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.
Many of the symptoms of testicular torsion are similar to the infection epididymitis.
The presence of hypertension related to stenosis of the renal artery.
Hypertension due to renal artery hyperplasia
Renal artery stenosis can lead to hypertension and chronic kidney disease (due to chronic renal ischemia). The hypertension is caused by activation of the renin-angiotensin-aldosterone system.
Increased inferior to superior extent of the thorax.
An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.
Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.
The prolapse of the female urethra into the vagina.
A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.
It is associated with many conditions, including megaloblastic anemia from vitamin B12 deficiency, iron deficiency anemia (which in severe cases can lead to Plummer-Vinson syndrome) and oral candidiasis. It can also be a symptom of allergies, such as allergy to Balsam of Peru. Cheilitis can also be caused by taking the (retinoid) drug Isotretinoin. It may also be a pre-malignant lesion for squamous cell carcinoma.
A tumor (abnormal growth of tissue) of the nail.
Increase in the number or proportion of lymphocytes in the blood.
An abnormal increase in the total number of T cells detected in the blood.
Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.
Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.
Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent.
Vitreous floaters are described as vitreous condensations (or vitreous debris or vitreous opacities) as a finding upon ophthalmological examination. Floaters can take many forms from little dots, circles, lines, to clouds or cobwebs. The floaters are created by a shadow of the floating vitreal debris that is projected onto the retina, which is described as a veil.
The presence of a neoplasm of the small intestine.
An estimated 40% of small bowel cancers are adenocarcinomas, 40% are carcinoids, 15% are sarcomas (GI stromal tumors), and less than 5% are lymphomas.
The presence of a neoplasm of the large intestine.
Benign neoplasm of the central nervous system
A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.
Malignant neoplasm of the central nervous system
Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.
The onset of atrophodermia vermiculata is usually between the ages of 5 and 12 years.
An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
Absence of the liver owing to a failure of the liver to develop.
Absence or underdevelopment of the eyebrow.
A developmental anomaly wtih a small tubular or saccular midline stomach.
Patients with microgastria usually have poor growth, inadequate food consumption, or a complication of the small gastric cavity and gastroesophageal reflux, including frequent vomiting or pneumonia.
Underdevelopment of the optic nerve and absence of the septum pellucidum.
An acute hypersensitivity reaction due to exposure to a previously encountered antigen.
Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated.
A chronic, relapsing, pustular eruption that is localized to the palms and soles.
There are recurrent and painful eruptions of pustules on the palms and the soles of feet that may resolve with red-brown discoloration.
A tumor (abnormal growth of tissue) of the male external genitalia.
Neoplasia of the male external genitalia
A tumor (abnormal growth of tissue) of the scrotum.
A tumor (abnormal growth of tissue) of the penis.
An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response.
Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.
Decreased ossification of the vertebral bodies.
Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.
Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .
Dilatation of superior mesenteric artery
Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .
Dilatation of Inferior mesenteric artery
Increase in bone density of the vertebral body.
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Increased width of the ischium, which forms the lower and back part of the hip bone.
The narrowing or partial blockage of a portion of the duodenum.
The presence of telangiectases on the skin of palm of hand.
Telangiectases (small dilated blood vessels) located on the skin of sole of foot.
An abnormality of the palm, that is, of the front of the hand.
An abnormality of the plantar part of foot, that is of the soles of the feet.
Increased density of hairs, i.e., and elevated number of hairs per unit area.
Increased length and width of one half of the tounge.
Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.
This feature is often found in the presence of hypoplasia of the malar process of the maxilla or zygoma, but should be coded separately.
Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.
Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.
Though NR are best known as precursors of Wilms tumor (WT), many alternative fates are observed, and most rests are destined for eventual atresia. Nephroblastomatosis refers to the presence of multifocal or diffuse nephrogenic rests.
Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.
Congenital mesoblastic nephroma is more common in males.
A rare, benign soft tissue tumor that typically occurs within the first two years of life.
Hamartoma-like growth in the placenta consisting of blood vessels.
A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.
Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.
An abnormality in the placement of the ocular globe (eyeball).
An abnormality in the size of the ocular globe (eyeball).
An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.
A cleft of the xiphoid process of the sternum.
An abnormality of the xiphoid process of the sternum.
Increased prominence of the xiphoid process of the sternum.
Increased side-to-side width of the xiphoid process of the sternum.
The presence of multiple rectal hyperplastic/adenomatous polyps.
Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.
Lesions in which collagen predominates are called collagenomas; lesions in which elastin predominates are called elastomas. A nevus mucinosis is a lesion in which an alteration in the amount of dermal glycosaminoglycan is present. The name nevus mucinosis is also used for lesions in which an alteration in more than one dermal component is present. Connective tissue nevi may be solitary or multiple, sporadic or inherited. They may occur as isolated skin lesions, or they may be associated with a number of syndromes.
An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the finger bone
Increased bone density in the outermost bone of the index finger
Sclerosis of the distal phalanx of the 2nd finger
Increased bone density in the outermost bone of the middle finger
Sclerosis of the distal phalanx of the 3rd finger
Increased bone density in the outermost bone of the ring finger
Sclerosis of the distal phalanx of the 4th finger
Increased bone density in the outermost little finger bone
Increased bone density in the outermost pinkie finger bone
Increased bone density in the outermost pinky finger bone
Sclerosis of the distal phalanx of the 5th finger
Increased bone density in the middle bone of the index finger
Sclerosis of the middle phalanx of the 2nd finger
Increased bone density in the middle bone of the middle finger
Sclerosis of the middle phalanx of the 3rd finger
Increased bone density in the middle bone of the ring finger
Sclerosis of the middle phalanx of the 4th finger
Increased bone density in the middle bone of the little finger
Increased bone density in the middle bone of the pinkie finger
Increased bone density in the middle bone of the pinky finger
Sclerosis of the middle phalanx of the 5th finger
Increased bone density in the innermost bone of the index finger
Sclerosis of the proximal phalanx of the 2nd finger
Increased bone density in innermost bone of the middle finger
Sclerosis of the proximal phalanx of the 3rd finger
Increased bone density in the innermost bone of the ring finger
Sclerosis of the proximal phalanx of the 4th finger
Increased bone density in innermost little finger bone
Increased bone density in innermost pinkie finger bone
Increased bone density in innermost pinky finger bone
Sclerosis of the proximal phalanx of the 5th finger
An elevation of bone density in the distal phalanx of the thumb.
Increased bone density in the outermost bone of the thumb
Sclerosis can be identified on a radiograph as an area of increased opacity.
Sclerosis of the distal phalanx of the thumb
An elevation of bone density in the proximal phalanx of the thumb.
Increased bone density in the innermost bone of the thumb
Sclerosis of the proximal phalanx of the thumb
Increased bone density in 1st long bone of hand
An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in outermost finger bone
Sclerosis of the distal phalanges of the hand
An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in middle finger bone of hand
Sclerosis of the middle phalanges of the hand
An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in innermost finger bone
Sclerosis of the proximal phalanges of the hand
An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in 2nd finger bone
Sclerosis of the phalanges of the 2nd finger
An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in middle finger bone
Sclerosis of the phalanges of the 3rd finger
An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in ring finger bone
Sclerosis of the phalanges of the 4th finger
An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in little finger bone
Increased bone density in pinkie finger bone
Increased bone density in pinky finger bone
Sclerosis of the phalanges of the 5th finger
An increase in bone density within the clavicle.
An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.
An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Sclerosis of the phalanges of the 2nd toe
An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Sclerosis of the phalanges of the 3rd toe
An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Sclerosis of the phalanges of the 4th toe
An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in little toe bone
Increased bone density in pinkie toe bone
Increased bone density in pinky toe bone
Sclerosis of the phalanges of the 5th toe
An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Sclerosis of the phalanges of the hallux
An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the innermost bone of the 2nd toe
Sclerosis of the proximal phalanx of the 2nd toe
An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the innermost bone of the 3rd toe
Sclerosis of the proximal phalanx of the 3rd toe
Increased bone density in the innermost bone of the 4th toe
Sclerosis of the proximal phalanx of the 4th toe
Increased bone density in the innermost bone of the little toe
Increased bone density in the innermost bone of the pinkie toe
Increased bone density in the innermost bone of the pinky toe
Sclerosis of the proximal phalanx of the 5th toe
Increased bone density in the middle bone of the 2nd toe
Sclerosis of the middle phalanx of the 2nd toe
An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the middle bone of the 3rd toe
Sclerosis of the middle phalanx of the 3rd toe
Increased bone density in the middle bone of the 4th toe
Sclerosis of the middle phalanx of the 4th toe
Increased bone density in the middle bone of the little toe
Increased bone density in the middle bone of the pinkie toe
Increased bone density in the middle bone of the pinky toe
Sclerosis of the middle phalanx of the 5th toe
Increased bone density in the outermost bone of the 2nd toe
Sclerosis of the distal phalanx of the 2nd toe
An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the outermost bone of the 3rd toe
Sclerosis of the distal phalanx of the 3rd toe
Increased bone density in the outermost bone of the 4th toe
Sclerosis of the distal phalanx of the 4th toe
Increased bone density in the outermost bone of the little toe
Increased bone density in the outermost bone of the pinkie toe
Increased bone density in the outermost bone of the pinky toe
Sclerosis of the distal phalanx of the 5th toe
Increased bone density in the innermost bone of the big toe
Sclerosis of the proximal phalanx of the hallux
Increased bone density in the outermost bone of the big toe
Sclerosis of the distal phalanx of the hallux
Increased bone density in the 1st long bone of foot
An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in innermost toe bone
Sclerosis of the proximal phalanges of the toes
An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in middle toe bone
Sclerosis of the middle phalanges of the toes
An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.
Increased bone density in the outermost bone of the toes
Sclerosis of the distal phalanges of the toes
Long chain 3 hydroxyacyl coA dehydrogenase deficiency
Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Previously, 3-alpha-hydroxyacyl-CoA dehydrogenase was referred to as short-chain 3-alpha-hydroxyacyl-CoA dehydrogenase as well as medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase.
Decreased activity of 3-hydroxyacyl-CoA dehydrogenase
An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).
Any structural abnormality of the medulla of the kidney.
The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis.
Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.
Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.
The hippocampus is part of the limbic system and plays a role in long- and short-term memory.
Different levels of maturation of different bones.
Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation.
A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.
The presence of an abnormal shape of the palpebral fissure.
Abnormal morphology of the palpebral fissure
Abnormal shape of the opening between the eyelids
Slanting of the opening between the eyelids
An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.
Abnormal size of the opening between the eyelids
The presence of multiple polyps in the intestine.
A tumor (abnormal growth of tissue) of adipose tissue.
Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.
Congenital defect with failure of the development of the cerebral white matter.
A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.
An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Damage to outer layer of the cornea of the eye
Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.
A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.
The presence of premature sister chromatid segregation.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.
Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.
A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.
A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.
Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.
Growth of abnormal tissue on or under the skin
A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children.
A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.
A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.
Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
A cyst is a cavity containing liquid, semisolid, or solid material. An epidermoid cyst is a benign cyst that develops out of ectodermal tissue and consists of a thin layer of squamous epithelium. An epidermal cyst may or may not be painful or release pus, and are usually noticed as a bump on the skin. Epidermal cysts and trichilemmal cysts are clinically indistinguishable. The wall of the epidermal cyst conserves the epidermal layers, but the wall of the trichilemmal cysts, which arise from the external root sheath, shows palisading of unlayered epithelial cells. Homogeneous horny material that is further degraded to fat and cholesterol forms within both types of cysts.
A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.
A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.
Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.
Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion.
A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.
The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.
This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age.
Inflammation of the cartilage of the external ear.
Bracket shaped end part of long bone of hand
Shortening of a leg affecting only one side.
Video description of how to test patients at: http://www.youtube.com/watch?v=HSYo7LhfV3A .
Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.
Asymmetry between the two irides or asymmetry between different parts of one iris.
Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.
A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.
Intermittent episodes of paralysis of all four limbs.
Respiratory insufficiency due to defective ciliary clearance
Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.
A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.
obsolete Peripheral retinal pigmentation abnormalities
Respiratory cilia have shortened or absent outer dynein arms
Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.
Recurrent upper and lower respiratory tract infections
Vitamin B12 deficiency caused by intestinal malabsorption
Short-term infection iwith one of the five hepatitis viruses that causes inflammation of the liver.
Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.
Atypical or prolonged liver inflammation
Hepatitis that lasts for more than six months.
Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.
Hepatitis, chronic, due to cryptosporidium infection
Chronic hepatitis due to cryptosporidium infection
Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.
Thickening of the heart walls in both ventricles.
obsolete Macrocephaly due to hydrocephalus
Bone marrow biopsy shows megaloblastic erythroid hyperplasia
An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).
MEMA replaces a variety of terms used in the past such as cystic medial necrosis, cystonecrosis, cystic degeneration, mucoid degeneration which, while generally understood by pathologists, are inaccurate. This histopathology can be subclassified and graded according to distribution, severity, and/or whether it crosses over multiple lamellar units as described. The grading should be reported as mild/moderate/severe and the distribution should be reported as focal, multifocal, or extensive.
Mucoid extracellular matrix accumulation
A reduction in the number of nerve cells in the basal ganglia.
Abnormal liver function tests during pregnancy
Abnormal liver function tests during pregnancy, resolves postpartum
An increased lymphocyte count in the cerebrospinal fluid.
Increased serum bile acid concentration during pregnancy, resolves
Increased serum bile acid concentration during pregnancy
Multifocal dense infiltrates of mast cells in cutaneous tissue.
Failure of development of lateral incisor
Failure of development of mandibular lateral incisor
Failure of development of permanent mandibular lateral incisor
Absence of adult mandibular lateral incisor
Absence of permanent mandibular lateral incisor
Missing permanent mandibular lateral incisor
Agenesis of permanent mandibular lateral incisor
Agenesis of deciduous mandibular lateral incisor
Failure of development of deciduous mandibular lateral incisor
Failure of development of primary mandibular lateral incisor
Absence of deciduous mandibular lateral incisor
Absence of primary mandibular lateral incisor
Missing deciduous mandibular lateral incisor
Missing primary mandibular lateral incisor
Agenesis of primary mandibular lateral incisor
Failure of development of maxillary incisor
Failure of development of mandibular incisor
Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.
Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.
The vertical shape must be distinguished from H-shaped crease of the chin.
Folds or ridges within the concha that are distinct from the crus helix.
Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).
Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.
The commonly used term Macrotia is a bundled term comprising increased length and width (surface area).
Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.
The commonly used term Microtia is a bundled term comprising decreased length and width (surface area).
Frequent menses; menstrual cycles lasting less than 21 days.
Prolonged/excessive menses and bleeding at irregular intervals.
Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.
The palate develops from the frontonasal and maxillary prominences between 4 and 12 weeks of gestation. During gestational weeks 4 to 7, the primary palate originates from the median palatine process, which itself originated from frontonasal prominence. The lip, alveolus, and hard palate anterior to the incisive foramen all share this origin in development. During this period, disruptions of palatal development process can result in primary palate clefting. The secondary palate develops from the lateral palatine processes originating from the maxillary prominences between 7 and 12 weeks, and the hard palate posterior to incisive foramen and the soft palate are developmental products of this process. As such, disruptions during this time will result in secondary palate clefts. The alveolus is a component of the primary palate, and alveolar cleft results from mal-development of the frontonasal prominence. As such, it is most closely related to cleft lip and cleft palate. Generally, alveolar clefts are located between the lateral incisor and canine
Abnormality of the first branch of the internal carotid artery.
The ophthalmic artery (OA) is the first branch of the internal carotid artery distal to the cavernous sinus. Branches of the OA supply all the structures in the orbit as well as some structures in the nose, face and meninges.
Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.
Abnormality of the peripheral nervous system
Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.
The SoNS consists of afferent and efferent nerves. Afferent nerves are responsible for relaying sensation to the central nervous system; efferent nerves are responsible for stimulating muscle contraction, including all the non-sensory neurons connected with skeletal muscles and skin.
Abnormality of the somatic nervous system
Any abnormality of the somatic nerve plexus.
Any abnormality of the masticatory muscle.
Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.
An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.
An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.
Abnormality of ganglion of peripheral nervous system
An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.
Inflammation or infection of the external auditory canal (EAC), the auricle, or both.
Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.
Pain that is localized to the region of the upper abdomen immediately below the ribs.
Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.
A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).
An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.
Buccal mucosal cells are harvested from the oral mucosa in the region of the cheek, and can be used as a surrogate tissue to measure cell junction proteins because it is difficult to obtain cells from a tissue of interest such as the myocardium. Cell junction proteins, such as plakoglobin and the major cardiac gap junction protein Cx43 may have an abnormal distribution in diseases such as arrhythmogenic cardiomyopathy.
Abnormal distribution of cell junction proteins in buccal mucosal cells
A decrease in the amount of alveolar bone around the root of a tooth.
Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.
Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.
A split or cleft in the uvula resulting from incomplete fusion of the palatine shelves.
One sided alveolar cleft of the maxilla.
Nonmidline alveolar cleft of the maxilla.
Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.
Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).
An abnormality of the radial ray; the thumb bones and 1st meta carpel.
A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.
Decreased level of 1,5-anhydro-D-glucitol in serum
Decreased level of 1,5-anhydroglucitol in serum
Decreased level of 1,5 anhydroglucitol in serum
An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.
Increased level of 3-hydroxy-3-methylglutaric acid in urine
An increase in the level of allantoin in the serum.
An increase in the level of GABA in the serum.
Increased level of gamma-aminobutyric acid in serum
A decrease in the level of GABA in the serum.
Decreased level of gamma-aminobutyric acid in serum
A decrease in the level of erythritol in the urine.
A decrease in the level of erythritol in the cerebrospinal fluid.
Decreased level of erythritol in cerebrospinal fluid
An increase in the level of D-threitol in the plasma.
D-threitol, a C4-polyol, is the main end product of D-xylose metabolism in humans.
An increase in the level of D-threitol in the cerebrospinal fluid.
Increased level of D-threitol in cerebrospinal fluid
An increase in the level of D-threitol in the urine.
A decrease in the level of D-mannose in the urine.
An increase in the level of galactitol in the plasma.
An increase in the level of galactitol in the urine.
Galactitol is the reduction product of galactose.
An increase in the level of galactonate in the red blood cells.
Increased level of galactonate in erythrocytes
Increased level of galactonate in red blood cells
An increase in the level of galactitol in the red blood cells.
Increased level of galactitol in erythrocytes
Increased level of galactitol in red blood cells
An increase in the level of hippuric acid in the blood.
Increased level of N-benzoylglycine in blood
Increased level of hippuric acid in blood
An increase in the level of hippuric acid in the urine.
Increased level of N-benzoylglycine in urine
Increased level of hippuric acid in urine
An increase in the level of L-fucose in the urine.
Fucose is a hexose deoxy sugar with the chemical formula C6H12O5.
An increase in the level of L-glutamic acid in the blood.
Increased level of L-glutamic acid in blood
An increase in the level of propylene glycol in the blood.
Increased level of propane-1,2-diol in blood
Increased level of propylene glycol in blood
An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.
An increase in the level of ribitol in the cerebral spinal fluid.
Increased level of ribitol in cerebrospinal fluid
An increase in the level of ribose in the urine.
An increase in the level of ribose in the cerebrospinal fluid.
Increased level of ribose in cerebrospinal fluid
An increase in the level of xylitol in the urine.
An increase in the level of xylitol in the cerebrospinal fluid.
Increased level of xylitol in cerebrospinal fluid
An increase in the level of L-pyroglutamic acid in the urine.
Increased level of 5-oxo-L-proline in urine
Increased level of L-pyroglutamic acid in urine
Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.
Urticaria caused by physical agents, such as heat, cold, light, friction.
Urticaria may be caused by cold temperatures.
A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.
Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.
Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.
An abnormality in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
A decrease in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
An increase in biotinidase activity, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.
Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.
Eosinophilic infiltration in the stomach mucosa
A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.
A form of anaphylaxis that is triggered by intake of drugs or medications.
Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.
Eosinophilic infiltration of the oesophagus
Eosinophilic infiltration of the esophagus
The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.
Eosinophilic micro-abscess formation in the esophagus
Eosinophilic microabscess formation in the oesophagus
Eosinophilic microabscess formation in the esophagus
An increase in the level of methylsuccinic acid in the urine.
Increased level of pyrotartaric acid in urine
Increased level of methylsuccinic acid in urine
An increase in the level of myristic acid in the serum.
Increased level of tetradecanoic acid in serum
Increased level of myristic acid in serum
An increase in the level of N-acetylneuraminic acid in the urine.
Increased level of N-acetylneuraminic acid in urine
An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.
Increased level of Neu5Ac in fibroblasts
Increased level of sialic acid in fibroblasts
Increased level of N-acetylneuraminic acid in fibroblasts
An increase in the level of O-phosphoethanolamine in the urine.
Increased level of O-phosphoethanolamine in urine
A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.
Any abnormality of the shoulder muscles.
Partial or complete wasting (loss) of hippocampus tissue that was once present.
Increased concentration of cotinine in urine.
Cotinine is the main metabolite of nicotine and accumulates in the body as a result of tobacco exposure. In humans, cotinine is excreted in the urine, mainly as trans-3[prime]-hydroxycotinine and glucuronide. This is used as a measure for exposure to tobacco smoke.
An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
An increase in the level of ketone bodies in the blood.
Increased level of ketone bodies in blood
An anomaly in the level of glucose-6-phosphate dehydrogenase.
Abnormal glucose-6-phosphate dehydrogenase level
An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.
Abnormal glucose-6-phosphate dehydrogenase level in blood
An increase in the level of glucose-6-phosphate dehydrogenase in the blood.
Increased glucose-6-phosphate dehydrogenase level in blood
A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.
Decreased glucose-6-phosphate dehydrogenase level in blood
An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
Abnormal glucose-6-phosphate dehydrogenase level in DBS
Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot
An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
Increased G6PD level in dried blood spot
Increased glucose-6-phosphate dehydrogenase level in DBS
Increased glucose-6-phosphate dehydrogenase level in dried blood spot
A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.
Decreased G6PD level in dried blood spot
Decreased glucose-6-phosphate dehydrogenase level in DBS
Decreased glucose-6-phosphate dehydrogenase level in dried blood spot
An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.
Abnormal glucose-6-phosphate dehydrogenase level in leukocytes
An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.
Abnormal glucose-6-phosphate dehydrogenase level in red blood cells
An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.
Abnormal glucose-6-phosphate dehydrogenase level in tissue
An increase in the level of glucose-6-phosphate dehydrogenase in tissue.
Increased glucose-6-phosphate dehydrogenase level in tissue
A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.
Decreased glucose-6-phosphate dehydrogenase level in tissue
A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.
Decreased glucose-6-phosphate dehydrogenase level in red blood cells
An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.
Increased glucose-6-phosphate dehydrogenase level in red blood cells
A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.
Decreased glucose-6-phosphate dehydrogenase level in leukocytes
An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.
Increased glucose-6-phosphate dehydrogenase level in leukocytes
An abnormality in uridine diphosphate glucose-4-epimerase activity, an enzyme that catalyzes the reaction: UDP-glucose = UDP-galactose.
Abnormal UDP-glucose 4-epimerase activity activity
Abnormal uridine diphosphate glucose-4-epimerase activity
An abnormality in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Abnormal UDP-glucose 4-epimerase activity activity in plasma
Abnormal uridine diphosphate glucose-4-epimerase activity in plasma
An increase in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Increased UDP-glucose 4-epimerase activity activity in plasma
Increased uridine diphosphate glucose-4-epimerase activity in plasma
A decrease in uridine diphosphate glucose-4-epimerase activity in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Decreased UDP-glucose 4-epimerase activity activity in plasma
Decreased uridine diphosphate glucose-4-epimerase activity in plasma
An abnormality in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Abnormal UDP-glucose 4-epimerase activity activity in RBCs
Abnormal UDP-glucose 4-epimerase activity activity in red blood cells
Abnormal uridine diphosphate glucose-4-epimerase activity in red blood cells
An increase in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Increased UDP-glucose 4-epimerase activity activity in RBCs
Increased UDP-glucose 4-epimerase activity activity in red blood cells
Increased uridine diphosphate glucose-4-epimerase activity in red blood cells
A decrease in uridine diphosphate glucose-4-epimerase activity in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.
Decreased UDP-glucose 4-epimerase activity activity in RBCs
Decreased UDP-glucose 4-epimerase activity activity in red blood cells
Decreased uridine diphosphate glucose-4-epimerase activity in red blood cells
Increased concentration of urate in the cerebrospinal fluid.
Detection of barbiturate metabolites such as phenobarbital in meconium.
Detection of barbiturate metabolites such as phenobarbital in the hair.
Detection of barbiturate metabolites such as phenobarbital in the stool.
Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.
An increase in the length of time required for food to pass through the intestines.
Any deviation from the normal concentration of nicotinurate in the blood.
Abnormal circulating N-nicotinoylglycine level
Nicotinuric acid is an acyl glycine, which are normally minor metabolites of fatty acids. However, the excretion of certain acyl glycines is increased in several inborn errors of metabolism. In certain cases the measurement of these metabolites in body fluids can be used to diagnose disorders associated with mitochondrial fatty acid beta-oxidation. Nicotinuric acid is the major detoxification product of nicotinic acid. It may serve as a simple quantitative index of hepatic biotransformation of nicotinic acid.
An increased amount of nicotinurate in the blood.
Increased circulating N-nicotinoylglycine level
Increased circulating nicotinurate level
Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.
Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.
Cotinine is used as a biomarker for exposure to tobacco smoke.
A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.
Folate deficiency in cerebrospinal fluid
Cerebral folate deficiency is usually measured as low levels of folate in the CSF, in the presence of normal folate metabolism outside the nervous system.
An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.
An abnormally high level of blood oxygen in the cord blood.
An abnormally low level of blood oxygen in the cord blood.
Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.
Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.
An abnormal concentration of 5-methyltetrahydrofolate in the blood.
Abnormal blood 5-methyltetrahydrofolate level
A decreased concentration of 5-methyltetrahydrofolate in the blood.
Reduced blood 5-methyltetrahydrofolate level
Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).
Disorder of maxillary and mandibular dental arch relationship
Hypoplasia of maxilla relative to mandible
Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).
Disorder of mandibular and maxillary dental arch relationship
Hypoplasia of mandible relative to maxilla
Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.
Increased anti-dairy protein IgE antibody level
Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.
Increased level of anti-animal protein IgE antibody
For animal dander annotations, there is a more specific subclass of this term.
Increased anti-animal protein IgE antibody level
Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.
Increased level of anti-seafood IgE antibody
Increased anti-seafood IgE antibody level
Increased level of IgE antibody against dust mites, such as house dust mites.
Increased level of anti-dust mite IgE antibody
Increased anti-dust mite IgE antibody level
Increased level of IgE antibody against bacteria.
Increased level of anti-bacteria IgE antibody
Increased anti-bacteria IgE antibody level
Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.
Increased level of anti-drug IgE antibody
Increased level of IgE antibody against an feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.
Increased anti-feather IgE antibody level
Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.
Increased level of anti-food allergen IgE antibody
Increased anti-food allergen IgE antibody level
Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.
Increased level of anti-plant based food allergen IgE antibody
Increased anti-plant based food allergen IgE antibody level
Increased level of IgE antibody against an gluten, a protein found in wheat, barley, and rye.
Increased level of anti-gluten IgE antibody
Increased anti-gluten IgE antibody level
Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.
Increased anti-nut food product IgE antibody level
Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.
Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.
Increased anti-fungal IgE antibody level
Increased anti-fungus IgE antibody level
Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.
Increased anti-meat allergen IgE antibody level
Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.
Increased anti-parasite IgE antibody level
Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.
Increased anti-insect IgE antibody level
Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.
Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.
Increased anti-plant product IgE antibody level
Detection of norcotinine, a metabolite of nicotine, in urine.
An abnormal deviation from normal levels of IgA immunoglobulin in blood.
An abnormal deviation from normal levels of IgE immunoglobulin in blood.
An abnormal deviation from normal levels of IgG immunoglobulin in blood.
An abnormal deviation from normal levels of IgM immunoglobulin in blood.
An abnormal deviation from normal levels of IgD immunoglobulin in blood.
An abnormally decreased level of immunoglobulin D (IgD) in blood.
An abnormally increased level of immunoglobulin D in blood.
Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.
Increased level of anti-dander IgE antibody
Increased anti-animal dander IgE antibody level
Increased level of IgE antibody against house dust mites, a common allergen.
Increased anti-house dust IgE antibody level
Increased level of anti-house dust IgE antibody
Increased anti-house dust mite IgE antibody level
Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.
Increased anti-galactose-alpha-1, 3 galactose IgE antibody level
Increased anti-alpha-gal IgE antibody level
An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.
Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.
Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
Chronic neutropenia in myeloid maturation arrest in bone marrow
Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.
Cyclic neutropenia in myeloid maturation arrest in bone marrow
A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.
Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.
An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.
An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.
The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.
A widely spaced gap between the fourth toe and the fifth (pinky) toe.
A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.
An anomaly of metabolism or structure of the brain identified by imaging.
A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.
A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.
A hemangiomas arising from within visceral structures, the internal organs of the body.
A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.
A spinal cord hemangioma located in the lumbosacral spine region.
An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).
A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.
A fluid-filled sacs that develop on or near the pituitary gland.
Partial or complete wasting (loss) of the pituitary gland.
Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.
A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.
A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
Detection of acetaminophen in the blood.
Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.
Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.
Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.
A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.
Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
Opposing or not responding to instructions or external stimuli.
An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
Abnormal level of natural antibody to blood group agents
Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).
Absent natural antibody to blood group agents
A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.
Decreased specific antibody response to protein vaccine
The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Complete or near-complete absence of specific antibody response to tetanus vaccine
The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.
Complete or near-complete absence of specific antibody response to hepatitis B vaccine
A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to tetanus vaccine
A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to hepatitis B vaccine
A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
Decreased specific antibody response to polysaccharide vaccine
The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
Complete or near-complete absence of specific antibody response to pneumococcus vaccine
A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to pneumococcus vaccine
A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.
Decreased specific antibody response to protein-conjugated polysaccharide vaccine
The inability to synthesize postvaccination antibodies against a Haemophilus H type B antigen, as measured by antibody titer determination following vaccination.
Complete or near-complete absence of specific antibody response to Haemophilus H type B vaccine
The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.
Complete or near-complete absence of specific antibody response to meningococcus vaccine
A reduced ability to synthesize postvaccination antibodies against a Haemophilus H type B antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to Haemophilus H type B vaccine
A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.
Partial absence of specific antibody response to meningococcus vaccine
Detection of methadone and its metabolites in the stool.
A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.
Decreased specific antibody response to infection
A increased concentration of alpha-aminoadipic acid in the urine.
An abnormal form or size of neutrophils in the cerebrospinal fluid.
Abnormality of neutrophil morphology in cerebrospinal fluid
Abnormality of neutrophil morphology in CSF
Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.
Hyposegmentation of neutrophil nuclei in cerebrospinal fluid
Hyposegmentation of neutrophil nuclei in CSF
An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.
Hypersegmentation of neutrophil nuclei in cerebrospinal fluid
Hypersegmentation of neutrophil nuclei in CSF
Abnormal concentration of 1-methylhistidine in the urine.
Abnormal urinary 1-methylhistidine concentration
Decreased concentration of 1-methylhistidine in the urine.
Increased concentration of 1-methylhistidine in the urine.
Abnormal concentration of 3-methylhistidine in the urine.
Abnormal urinary 3-methylhistidine concentration
Increased concentration of 3-methylhistidine in the urine.
Decreased concentration of 3-methylhistidine in the urine.
Hypersensitivity in form of an adverse immune reaction against alpha-gal.
Immunoglobulin E-mediated alpha-gal allergy
Hypersensitivity in form of an adverse immune reaction against animal proteins.
Immunoglobulin E-mediated animal protein allergy
Hypersensitivity in form of an adverse immune reaction against animal dander.
Immunoglobulin E-mediated animal dander allergy
Hypersensitivity in form of an adverse immune reaction against bacteria.
Immunoglobulin E-mediated bacteria allergy
Hypersensitivity in form of an adverse immune reaction against drugs.
Hypersensitivity in form of an adverse immune reaction against dust mites.
Immunoglobulin E-mediated dust mite allergy
Hypersensitivity in form of an adverse immune reaction against house dust mites.
Immunoglobulin E-mediated house dust mite allergy
Hypersensitivity in form of an adverse immune reaction against feathers.
Immunoglobulin E-mediated feather allergy
Hypersensitivity in form of an adverse immune reaction against dairy.
Hypersensitivity in form of an adverse immune reaction against eggs.
Hypersensitivity in form of an adverse immune reaction against gluten.
Immunoglobulin E-mediated gluten allergy
A gluten allergy is usually distinct from gluten sensitivity or Celiac disease.
Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.
Immunoglobulin E-mediated meat allergen allergy
Hypersensitivity in form of an adverse immune reaction against nut food products.
Immunoglobulin E-mediated nut food product allergy
Hypersensitivity in form of an adverse immune reaction against plant based food allergens.
IgE-mediated plant based food allergen allergy
Immunoglobulin E-mediated plant based food allergen allergy
Hypersensitivity in form of an adverse immune reaction against seafood.
Immunoglobulin E-mediated seafood allergy
Hypersensitivity in form of an adverse immune reaction against fungus.
Hypersensitivity in form of an adverse immune reaction against insects.
Immunoglobulin E-mediated insect allergy
Hypersensitivity in form of an adverse immune reaction against insect venom.
Hypersensitivity in form of an adverse immune reaction against parasites.
Immunoglobulin E-mediated parasite allergy
Hypersensitivity in form of an adverse immune reaction against plant products.
Immunoglobulin E-mediated plant product allergy
Hypersensitivity in form of an adverse immune reaction against insect bites.
Immunoglobulin E-mediated insect bite allergy
The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.
Focal epithelial hyperplasia of the lining of mouth
Focal epithelial hyperplasia of oral mucosa
An abnormal level of heparan sulfate in the blood.
Abnormality of the concentration of heparan sulfate in the blood
Abnormal circulating heparan sulfate level
An abnormal increase in the concentration of heparan sulfate in the blood.
Increased blood heparan sulfate concentration
Increased circulating heparan sulfate level
An abnormal decrease in the concentration of heparan sulfate in the blood.
Decreased blood heparan sulfate concentration
Decreased circulating heparan sulfate level
Decreased length of O-fucosylated glycans present on properdin.
Presence of terminal O-fucose glycans on properdin
Shortened O-fucosylated glycan on properdin
An abnormal increase in the concentration of polyhexose in the urine.
Increased polyhexose concentration in urine
An abnormal increase in the concentration of galactosylated oligosaccharides in urine.
Increased concentration of galactosylated oligosaccharides in urine
Increased urinary galactosylated oligosaccharide
An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.
Increased concentration of high-mannose-type oligosaccharides in urine
Increased urinary high-mannose-type oligosaccharide
An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.
Increase concentration of multiantennary sialylated oligosaccharides in urine
Increased urinary multiantennary sialylated oligosaccharide
An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic activity.
Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase activity
An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine.
Increased concentration of fucosylated oligosaccharides in urine
Increased urinary fucosylated oligosaccharide
An abnormal concentration of complex N-glycans on glycoproteins.
Abnormal concentration of complex N-glycans on glycoproteins
An abnormal increase in the concentration of complex N-glycans on glycoproteins.
Increased concentration of complex N-glycans on glycoproteins
An abnormal decrease in the concentration of complex N-glycans on glycoproteins.
Increased truncated complex N-glycans on glycoproteins
An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.
Increased concentration of sialylated N-glycans on glycoproteins
An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.
Decreased concentration of sialylated N-glycans on glycoproteins
An abnormal concentration of high-mannose N-glycans on glycoproteins.
Abnormal high-mannose N-glycans on glycoprotein concentration
An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.
Increased high-mannose N-glycans on glycoprotein concentration
An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.
Decreased high-mannose N-glycans on glycoprotein concentration
An abnormal in the concentration of core 1 O-glycans on glycoproteins.
An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.
An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.
An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.
Increased sialyl T-antigen concentration
Increased monosialylated core 1 O-glycan level
An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.
Decreased sialyl T-antigen concentration
Decreased monosialylated core 1 O-glycan level
An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.
Increased disialyl T-antigen concentration
Increased disialylated core 1 O-glycan level
An abnormal increase in the concentration of globoside Gb4.
An abnormal increase in the concentration of glycolipid globoside Gb3.
An abnormal increase in the concentration of Tn antigen on glycoproteins.
Increased O-GalNac on glycoprotein concentration
Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.
Abnormal proportion of CD4+CD45RA+ cells
Abnormal proportion of naive CD4 T cells
Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.
Abnormal proportion of naive CD8 T cells
Increased proportion of CD4+CD45RA+ cells
An abnormally increased proportion of naive CD4 T cells relative to the total number of T cells.
Elevated proportion of naive CD4 T cells
An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.
Elevated proportion of naive CD8 T cells
An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.
An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.
Decreased proportion of CD4+CD45RA+ cells
An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Abnormal proportion of CD4-positive, alpha-beta memory T cells
An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Abnormal proportion of CD8-positive, alpha-beta memory T cells
An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Abnormal proportion of central memory CD4-positive, alpha-beta T cells
An abnormal proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Abnormal proportion of effector memory CD4-positive, alpha-beta T cells
An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Abnormal proportion of effector memory CD8-positive, alpha-beta T cell
An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Abnormal proportion of central memory CD8-positive, alpha-beta T cell
Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Decreased proportion of CD8-positive, alpha-beta memory T cells
Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Decreased proportion of CD4-positive, alpha-beta memory T cells
A reduced proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Decreased proportion of effector memory CD4-positive, alpha-beta T cells
A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Decreased proportion of central memory CD4-positive, alpha-beta T cells
A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Decreased proportion of central memory CD8-positive, alpha-beta T cells
A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Decreased proportion of effector memory CD8-positive, alpha-beta T cells
An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Increased proportion of CD4-positive, alpha-beta memory T cells
An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.
Increased proportion of CD8-positive, alpha-beta memory T cells
An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of central memory CD4-positive, alpha-beta T cells
An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of effector memory CD4-positive, alpha-beta T cells
An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of effector memory CD8-positive, alpha-beta T cells
An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.
Increased proportion of central memory CD8-positive, alpha-beta T cells
An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.
A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.
The presence of more than the normal number of eyelids.
Abnormal shortness of the vertical dimensions of the eyelids.
An abnormality of the palpebral conjunctiva.
Failure to complete ossification (maturation and calcification) of the palatine bone.
Incomplete calcification of palatine bone
Incomplete mineralization of palatine bone
Incomplete ossification of palatine bone
An abnormality of one or more of the five muscles of the soft palate.
Abnormality of musculature of soft palate
An abnormality of any of the muscles of the pharynx.
An abnormality of the tensor veli palatini muscle
Abnormality of tensor veli palatini muscle
An abnormality of the muscles of the structure of the nose.
An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.
Abnormality of muscle of facial expression
Abnormality of musculature of facial expression
An abnormality of the levator labii superioris alaeque nasi muscle.
Abnormality of levator labii superioris alaeque nasi muscle
An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.
Abnormality of the common carotid artery
Abnormal common carotid artery morphology
An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.
An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.
An abnormality of an external jugular vein of the neck.
Two-sided or bilateral weakness of the muscles of facial expression and eye closure.
An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims.
Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.
An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.
Increased size of the primary palate bone
A perceived unpleasant smell given off by the body.
Pain in and around the anus or rectum (perianal region).
Urethritis is characterized by discharge, dysuria and/or urethral discomfort but may be asymptomatic. Common etiologies include gonococcal urethritis as well as infection by chlamydia trachomatis, mycoplasma genitalium, ureaplasma urealyticum, trichomonas vaginalis, anaerobes, herpes simplex virus, and adenovirus.
Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.
Iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta.
Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.
Cornea verticillata can be a feature of Fabry disease and can occur as an adverse effect of mediciations including amiodarone.
It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.
Dysplastic gangliocytoma of the cerebellum
A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.
Moon facies can occur in persons treated with high-dose corticosteroids or with Cushing disease.
A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone level secreted from the pituitary gland.
Abnormality of gonadotropin-releasing hormone level
Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.
The decapeptide gonadotropin-releasing hormone (GnRH) is the master hormone regulating reproduction. GnRH is released from some 1000 neurons within the hypothalamus in a pulsatile manner. Hypothalamic GnRH gene expression occurs intermittently (in a pulsatile fashion). The primary target of hypothalamic GnRH is the anterior pituitary gonadotrope, which responds to stimulation by increasing the synthesis and secretion of the gonadotropins luteinzing hormone (LH) and follicle stimulating hormone (FSH), which in turn regulate gonadal development and function.
Lack of gonadotropin-releasing hormone pulsatility
Abnormal test result of cardiovascular physiology.
Abnormal results of a MRI for the heart.
Abnormal cardiac magnetic resonance imaging
Abnormal results from the diagnostic tests resulting from cardiac catheterization.
Abnormal results of exercise on heart function.
Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).
Abnormal resting energy expenditure from metabolic cart test
Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.
An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).
Reduced brain gamma-aminobutyric acid level by MRS
A deviation from the normal concentration of dehydroepiandrosterone in the circulation.
Dehydroepiandrosterone (DHEA), which is produced in the adrenal glands and the gonads, represents the most abundant circulating steroid hormone. It is a metabolic intermediate in the biosynthesis of the androgen and estrogen sex steroids.
Abnormal serum dehydroepiandrosterone level
Absence of the musculature of the pelvis.
Aplasia of the musculature of the pelvis
Underdevelopment of the musculature of the pelvis.
Hypoplasia of the musculature of the pelvis
Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.
Change in normal glycogen storage content.
An elevation in bone density in one or more carpal bones of the hand.
Abnormality of the structure and branching of the dendrites of a neuron.
Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.
Abnormal natural killer subset distribution
A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.
The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.
Nasolacrimal sac epithelial papillary carcinoma
An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.
A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.
A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.
A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.
With the eyes in primary position, the sclera is visible above the superior corneal limbus.
An elevation of the eyelid above the normal level in the primary position.
A unilateral or bilateral eyelid retraction due to midbrain lesions.
Inflamation of the eyelid due to overactivity of the sebaceous gland.
There is some suggestion that yeast bacterial strain called Malassezia furfur may cause seborrhoeic dermatitis. This yeast bacterial strain thrives in the oil of human skin especially in adults.
A type of lymphoma that involves the nasolacrimal sac.
A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.
Delayed canalization of nasolacrimal duct
An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.
The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.
The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.
The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.
Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.
Stage 4 can occur after treatment (unlike stages 1-3) and may be accelerated by the absence of vascular endothelial growth factor posttreatment leading to an accelerated cicatricial phase.
A detachment that involves the peripheral retina that does not extend into the macula.
A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.
Funnel detachment from the retina with generally traction in all four quadrants.
An open funnel detachment of the retina with generally traction in all four quadrants.
A closed funnel detachment of the retina with generally traction in all four quadrants.
Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.
Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.
Retinopathy which is a residual crescent of retina anterior to zone II.
Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.
As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.
Over time, the vessel abnormalities of pre-plus may progress to frank plus disease as the vessels dilate and become more tortuous.
A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.
High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.
The difference between total and manifest myopia.
A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.
A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus.
Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.
Any deviation from the normal ocular alignment.
An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.
Dissociated vertical deviation (DVD ) occurs when the level of illumination received by either eye is reduced sufficiently and as a result eye deviates progressively upwards, but reverts to its original position when the level of illumination returns to normally acceptable levels. It may sometimes be so asymmetrical as to be virtually unilateral and is associated with heterotropia usually of early onset.
A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.
A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.
A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.
A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.
A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.
The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).
Having a characteristic appearance of a slate gray area of pigmentation within the disc margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.
This type of disc rim pigmentation can create the impression of neuroretinal rim thinning, and thus lead to the misdiagnosis of glaucoma or "glaucoma suspect" with attendant implications for overtreatment or unnecessary close monitoring of such patients.
Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.
A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.
A capillary hemangioma surrounding the eyeball but within the orbit.
A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva manoeuvre. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to haemorrhage.
A mesenchymal tumour that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.
Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.
Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.
Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.
A form of anaphylaxis that is triggered by exposure to venom.
Presence of a xenobiotic in plasma and/or serum.
Presence of a xenobiotic in gastric fluid.
Abnormal decrease in diastolic blood pressure.
Abnormal decrease in systolic blood pressure.
Elevated systolic blood pressure without an elevated blood pressure.
Isolated systolic hypertension or an elevated systolic blood pressure without an elevated diastolic blood pressure is a known risk factor for incident heart failure in older adults.
A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).
Isolated diastolic hypotension is a risk factor for incident heart failure.
Detection of cocaine or its major metabolite, benzoylecgonine, in urine.
Cocaine is an illicit stimulant that has a high potential for abuse and addiction.
Detection of barbiturate metabolites such as Phenobarbital in urine.
Barbiturates are central nervous depressants. They can reduce heart rate, breathing, and blood pressure.
Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.
Cannabis (marijuana, hashish) is the most widely used illegal drug in the world. The primary psychoactive component in cannabis is delta9-tetrahydrocannabinol (THC), which is rapidly metabolized to equipotent 11-hydroxy-THC (11-OH-THC) and non-psychoactive 11-nor-9-carboxy- delta9-tetrahydrocannabinol (THCCOOH).
Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.
Detection of amphetamine or its metabolites in urine.
Detection of opioids or opioid metabolites in urine.
Opiates are the natural or synthetic drugs that have a morphine-like pharmacological action. Medically, opiates are used primarily for relief of pain. Opiates include morphine and drugs structurally similar to morphine (eg, codeine, hydrocodone, hydromorphone, oxycodone).
Abnormal concentration of urobilinogen present in the stool.
Abnormal stool urobilinogen concentration
An increased amount of urobilinogen present in the stool.
Increased stool urobilinogen concentration
Detection of barbiturate metabolites such as Phenobarbital in blood.
Abnormal concentration of urate in the cerebrospinal fluid (CSF).
Urate is largely excluded from the brain under non-inflammatory conditions but increases in particular conditions such as Guillain-Barre Syndrome and bacterial meningitis.
A decreased amount of valine in the blood.
An decreased concentration of tyrosine in the blood.
An increased amount of tryptophan in the blood.
A decreased amount of tryptophan in the blood.
A decreased amount of threonine in the blood.
An increased amount of serine in the blood.
A decreased amount of proline in the blood.
A decreased amount of hydroxyproline in the blood.
Low level of hydroxyproline in the blood
Decreased circulating hydroxyproline concentration
A decreased amount of phenylalanine in the blood.
A decreased amount of lysine in the blood.
Decreased amount of leucine in the blood.
Decreased blood concentration of leucine
A decreased amount of isoleucine in the blood.
Decreased blood isoleucine concentration
A decreased amount of histidine in the blood.
Decreased amount of glutamine in the blood.
Any deviation from the normal concentration of glutamate in the blood circulation.
Abnormal circulating glutamate concentration
An increased amount of glutamate in the blood.
Under normal circumstances, plasma glutamate concentration is 5-100 microM/L, the whole blood concentration is 150-300 microM/L while in the brain's ECF it is only 0.3-2 microM/L.
A decreased amount of glutamate in the blood.
Decreased blood glutamate concentrations
An increased amount of cystine in the blood.
A decreased amount of cystine in the blood.
An increased amount of arginine levels in the blood.
A decreased amount of alanine in the blood.
Any deviation from the normal concentration of asparagine in the blood circulation.
Asparagine is a polar, aliphatic amino acid.
Abnormal circulating asparagine concentration
An increased amount of asparagine in the blood.
Increased blood asparagine concentration
A decreased amount of asparagine in the blood.
Decreased blood asparagine concentration
Any deviation from the normal concentration of aspartate in the blood circulation.
Abnormal circulating aspartate concentration
Aspartate is classified as an acidic amino acid.
Abnormal circulating aspartic acid concentration
An increased amount of aspartic acid in the blood.
Increased level of circulating aspartic acid
Any deviation from the normal concentration of carnosine in the blood circulation.
Carnosine is a neuroprotective dipeptide consisting of beta-alanine and L-histidine.
Abnormal circulating carnosine concentration
An increased amount of carnosine in the blood.
A decreased amount of carnosine in bood.
An abnormal decrease in ornithine in the blood.
Decreased blood ornithine concentrations
An abnormality of carbon dioxide (CO2) in the arterial blood.
An abnormality of the partial pressure of oxygen in the arterial blood.
An abnormal concentration of gastrin in the blood.
An elevated amount of gastrin in the blood.
An abnormal amount of acylcarnitine in the urine.
Combined, the total daily bile and urine production of acylcarnitine is <200 micromol.
Abnormal concentration of acylcarnitine in the urine
A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.
Abnormal circulating amino sulfonic acid concentration
An increased amount of taurine in the blood.
Increased circulating taurine levels in the blood
A decreased amount of taurine in the blood.
Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.
Abnormal CSF carboxylic acid concentration
Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.
Abnormal amino acid levels in cerebrospinal fluid
Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.
Abnormal branched-chain amino acid levels in cerbrospinal fluid
Abnormal CSF branched chain amino acid concentration
Any deviation from the normal concentration of valine in the cerebrospinal fluid.
Abnormal valine levels in cerebrospinal fluid
Any increased amount from normal of valine in the cerebrospinal fluid.
High valine levels in cerebrospinal fluid
Any decreased amount from normal of valine in the cerebrospinal fluid.
Low valine levels in cerebrospinal fluid
Any deviation from the normal concentration of leucine in the cerebrospinal fluid.
Abnormal leucine levels in cerebrospinal fluid
Abnormally decreased levels of leucine in the cerebrospinal fluid.
Low leucine levels in cerebrospinal fluid
Abnormally increased levels of leucine in cerebrospinal fluid.
High leucine levels in cerebrospinal fluid
Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.
Abnormal isoleucine levels in cerebrospinal fluid
Abnormally increased levels of isoleucine in cerebrospinal fluid.
High levels of isoleucine in cerebrospinal fluid
Abnormally decreased levels of isoleucine in cerebrospinal fluid.
Low levels of isoleucine in cerebrospinal fluid
Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.
Abnormal glutamine family amino acid levels in cerebrospinal fluid
Abnormal CSF glutamine family amino acid concentration
Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.
Abnormal glutamine levels in cerebrospinal fluid
Abnormally increased levels of glutamine in cerebrospinal fluid.
High glutamine levels in cerebrospinal fluid
Abnormally decreased levels of glutamine in cerebrospinal fluid.
Low glutamine levels in cerebrospinal fluid
Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.
Abnormal glutamic acid levels in cerebrospinal fluid
Abnormally increased levels of glutamic acid in cerebrospinal fluid.
High glutamic acid levels in cerebrospinal fluid
Abnormally decreased levels of glutamic acid in cerebrospinal fluid.
Low glutamic acid levels in cerebrospinal fluid
Any deviation from the normal concentration of arginine in the cerebrospinal fluid.
Abnormal arginine levels in cerebrospinal fluid
Abnormally increased levels of arginine in cerebrospinal fluid.
High arginine levels in cerebrospinal fluid
Abnormally decreased levels of arginine in cerebrospinal fluid.
Low arginine levels in cerebrospinal fluid
Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.
Abnormal aspartate-family amino acid levels in cerebrospinal fluid
Abnormal CSF aspartate family amino acid concentration
Any deviation from the normal concentration of lysine in the cerebrospinal fluid.
Abnormal lysine levels in cerebrospinal fluid
Abnormally decreased levels of lysine in cerebrospinal fluid.
Low lysine levels in cerebrospinal fluid
Abnormally increased levels of lysine in cerebrospinal fluid.
High lysine levels in cerebrospinal fluid
Any deviation from the normal concentration of methionine in the cerebrospinal fluid.
Abnormal methionine levels in cerebrospinal fluid
Abnormally increased levels of methionine in cerebrospinal fluid.
High methionine levels in cerebrospinal fluid
Any deviation from the normal concentration of threonine in the cerebrospinal fluid.
Abnormal threonine levels in cerebrospinal fluid
Abnormally increased levels of threonine in cerebrospinal fluid.
High threonine levels in cerebrospinal fluid
Abnormally decreased levels of threonine in cerebrospinal fluid.
Low threonine levels in the cerebrospinal fluid
Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.
Abnormal aromatic amino acid levels in cerebrospinal fluid
Abnormal CSF aromatic amino acid concentration
Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.
Abnormal phenylalanine levels in cerebrospinal fluid
Abnormal CSF phenylalanine concentration
Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.
Abnormal CSF aspartic acid concentration
Abnormal aspartic acid levels in cerebrospinal fluid
Abnormally increased levels of aspartic acid in cerebrospinal fluid.
High aspartic acid levels in cerebrospinal fluid
Increased CSF aspartic acid concentration
Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.
Abnormal tryptophan levels in cerebrospinal fluid
Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.
Abnormal tyrosine levels in cerebrospinal fluid
Abnormally increased levels of tyrosine in cerebrospinal fluid.
High tyrosine levels in cerebrospinal fluid
Abnormally decreased levels of tyrosine in cerebrospinal fluid.
Low tyrosine levels in the cerebrospinal fluid
Abnormally increased levels of tryptophan in cerebrospinal fluid.
High tryptophan levels in cerebrospinal fluid
Abnormally increased levels of phenylalanine in cerebrospinal fluid.
High phenylalanine levels in cerebrospinal fluid
Increased CSF phenylalanine concentration
Abnormally decreased levels of phenylalanine in cerebrospinal fluid.
Low phenylalanine levels in cerebrospinal fluid
Decreased CSF phenylalanine concentration
Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.
Abnormal serine-family amino acid levels in cerebrospinal fluid
Abnormal CSF serine family amino acid concentration
Any deviation from the normal concentration of serine in the cerebrospinal fluid.
Abnormal serine levels in cerebrospinal fluid
Abnormally increased levels of serine in cerebrospinal fluid.
High serine levels in cerebrospinal fluid
Abnormally decreased levels of serine in cerebrospinal fluid.
Low serine levels in cerebrospinal fluid
Any deviation from the normal concentration of glycine in the cerebrospinal fluid.
Abnormal glycine levels in cerebrospinal fluid.
Abnormally increased levels of glycine in cerebrospinal fluid.
High glycine levels in cerebrospinal fluid
Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.
Abnormal pyruvate-family amino acid levels in cerebrospinal fluid
Abnormal CSF pyruvate family amino acid concentration
Any deviation from the normal concentration of alanine in the cerebrospinal fluid.
Abnormal alanine levels in cerebrospinal fluid
Abnormally increased levels of alanine in cerebrospinal fluid.
High alanine levels in cerebrospinal fluid
Abnormally decreased levels of alanine in cerebrospinal fluid.
Low alanine levels in cerebrospinal fluid
Any deviation from the normal concentration of histidine in the cerebrospinal fluid.
Abnormal histidine levels in cerebrospinal fluid
Abnormally increased levels of histidine in cerebrospinal fluid.
High histidine levels in cerebrospinal fluid
Abnormally decreased levels of histidine in cerebrospinal fluid.
Low histidine levels in cerebrospinal fluid
Any deviation from the normal concentration of albumin in the cerebrospinal fluid.
Abnormal albumin levels in cerebrospinal fluid
High albumin levels in cerebrospinal fluid
Abnormally increased levels of albumin in cerebrospinal fluid.
Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.
Abnormal carnosine levels in cerebrospinal fluid
Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.
Abnormal homocarnosine levels in cerebrospinal fluid
Abnormal CSF homocarnosine concentration
Abnormally increased levels of homocarnosine in cerebrospinal fluid.
High homocarnosine levels in cerebrospinal fluid
Increased CSF homocarnosine concentration
Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.
Abnormal ornithine levels in cerebrospinal fluid
Abnormally increased levels of ornithine in cerebrospinal fluid.
High ornithine levels in cerebrospinal fluid
Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.
Abnormal citrulline levels in cerebrospinal fluid
Abnormally increased levels of citrulline in cerebrospinal fluid.
High citrulline levels in cerebrospinal fluid
Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.
Abnormal alpha-aminobutyrate levels in cerebrospinal fluid
Abnormal CSF alpha-aminobutyrate concentration
Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid.
High alpha-aminobutyrate levels in cerebrospinal fluid
Increased CSF alpha-aminobutyrate concentration
Any deviation from the normal concentration of ethanolamine in circulation.
Abnormal ethanolamine levels in the blood
Abnormal circulating ethanolamine concentration
Abnormally increased levels of ethanolamine in circulation.
Increased circulating ethanolamine concentration
Abnormal concentration of sebacic acid in the urine.
Abnormal urine decanedioic acid concentration
Abnormal urine sebacic acid concentration
Elevated concentration of sebacic acid in the urine.
Increased urine decanedioic acid concentration
Increased urine sebacic acid concentration
Elevated concentration of gamma-aminobutyric acid in the urine.
Increased level of gamma-aminobutyric acid in urine
Abnormal concentration of hexanoylglycine in the urine.
Abnormal urinary N-hexanoylglycine levels
Abnormal urine hexanoylglycine concentration
Elevated concentration of hexanoylglycine in the urine.
Elevated urinary N-hexanoylglycine concentration
Increased level of hexanoylglycine in urine
Abnormal concentration of isobutyrylglycine in the urine.
Abnormal urinary isobutyrylglycine levels
Abnormal urine isobutyrylglycine concentration
Elevated concentration of isobutyrylglycine in the urine.
Increased urine isobutyrylglycine concentration
Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.
Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.
It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.
Any structural anomaly of an inner ear epithelium.
Abnormal inner ear epithelium morphology
An abnormality of a frontalis muscle belly.
An abnormality of a medial pterygoid muscle.
An abnormality of an orbicularis oris muscle.
An abnormality of a palatoglossus muscle.
An abnormality of a palatopharyngeus muscle.
An abnormality of the styloglossus muscle.
An abnormality of a zygomaticus major muscle.
An abnormality of a zygomaticus minor muscle.
An abnormality of a cartilage of external ear.
Abnormality of cartilage of external ear
An abnormality of the angular artery, the terminal branch of the facial artery.
Any structural abnormality of a facial artery, one of the branches of the external carotid artery.
obsolete Abnormality of common carotid artery plus branches
An abnormality of a depressor anguli oris muscle.
Abnormality of depressor anguli oris muscle
An abnormality of a depressor labii inferioris.
Abnormality of depressor labii inferioris muscle
Abnormality of depressor labii inferioris
Abnormality of bones of the orbit of the skull
Abnormality of the orbital bones of skull
An abnormality of an anterior ethmoidal artery.
Abnormality of anterior ethmoidal artery
An abnormality of a central retinal artery.
The central retinal artery is a small branch of the ophthalmic artery that extends forward a short distance before entering the meningeal sheath of the nerve about 10 to 12 mm behind the globe of the eye.
Any abnormality of nasopharyngeal adenoids.
The adenoid, a mass of lymphatic tissue situated posterior to the nasal cavity, in the roof of the nasopharynx, where the nose blends into the throat.
An abnormality of a cartilage of nasal septum.
Abnormality of cartilage of nasal septum
Abnormality of cartilage of septum of nose
Malformation of cartilage of nasal septum
Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.
An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.
An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.
Abnormality of the cervical blood vessels
Abnormality of the vasculature of the neck
Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.
An abnormality of a dorsal nasal artery.
An abnormality of an external carotid artery.
Any structural abnormality of a jugular vein.
An abnormality of a frontal process of the maxilla bone.
Abnormality of frontal process of maxilla
An abnormality of a genioglossus muscle.
Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).
The glossopharyngeal nerve originates in the medulla oblongata. It Innervates the oropharynx, carotid body and sinus, as well as the posterior third of the tongue (where it mediates taste sensation), the middle ear cavity and the Eustachian tube. Additionally, it innervates the stylopharyngeus muscle of the pharynx.
Abnormal glossopharyngeal nerve morphology
Any structural anomaly of a great auricular nerve.
The great auricular nerve originates from the cervical plexus and ascends to the posterior inferior region of the parotid gland, where it divides into several small branches. The nerve supplies sensation for an extensive area of the face including the skin over the parotid gland and the mastoid process and the surface of the external ear. The great auricular nerve winds around the posterior aspect of the sternocleidomastoid muscle. After perforating the deep fascia, it ascends upon the sternocleidomastoid muscle beneath the platysma to the parotid gland, where it divides into an anterior and a posterior branch. The anterior branch provides sensory innervation to the skin overlying the parotid gland and communicates with the facial nerve in the substance of the gland. The posterior branch innervates the skin over the mastoid and the posterior surface of the auricle except at its upper part.
Abnormal great auricular nerve morphology
An abnormality of a greater palatine artery.
The greater palatine artery is a terminal branch of the maxillary artery that supplies blood to the hard palate and nasal septum.
Abnormal greater palatine artery morphology
An abnormality of an inferior alveolar artery.
An abnormality of an inferior alveolar nerve.
An abnormality of an artery of lower lip.
Abnormality of the inferior labial artery
An abnormality of an inferior oblique extraocular muscle.
Abnormality of the inferior oblique muscle
Abnormality of inferior oblique extraocular muscle
An abnormality of an inferior rectus extraocular muscle.
Abnormality of inferior rectus extraocular muscle
An abnormality of an inferior thyroid vein.
Abnormal inferior thyroid vein morphology
An abnormality of an infraorbital artery.
A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.
An abnormality of an internal carotid artery.
Abnormal internal carotid artery morphology
An abnormality of an internal jugular vein.
An abnormality of an intrinsic muscle of tongue.
Abnormality of intrinsic muscle of tongue
Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.
Abnormal anterior cricoarytenoid muscle morphology
Abnormality of lateral cricoarytenoid muscle
Abnormal lateral cricoarytenoid muscle morphology
An abnormality of a lateral pterygoid muscle.
An abnormality of a lateral rectus extra-ocular muscle.
Abnormality of lateral rectus extra-ocular muscle
An abnormality of a levator anguli oris.
An abnormality of a levator labii superioris.
An abnormality of a levator palpebrae superioris.
Abnormal levator palpebrae superioris morphology
An abnormality of a levator veli palatini.
Abnormality of levator veli palatini muscle
Any structural abnormality of a lingual artery.
Any structural anomaly of a lingual nerve.
The lingual nerve (LN) is one of the two terminal branches of the posterior division of the mandibular nerve. It supplies the general sensation to the mucosa of the anterior two-thirds of the tongue, the sublingual mucosa, the mandibular lingual gingiva and the floor of the mouth.The chorda tympani nerve, a branch of the facial nerve joins this nerve carrying taste fibers from the anterior two third of the tongue and parasympathetic fibers to the submandibular ganglion.
An abnormality of a mandible condylar process.
Abnormality of mandible condylar process
Abnormal mandible condylar process morphology
An abnormality of a mandible coronoid process.
Abnormality of mandible coronoid process
Abnormal mandible coronoid process morphology
A structural abnormality of a mandibular symphysis.
Consequence of a disorder in another organ system.
Peter Robinson, Sebastian Koehler, The Human Phenotype Ontology Consortium, and The Monarch Initiative
Phenotypic abnormalities encountered in human disease
Peter Robinson, Sebastian Koehler, Sandra Doelken, Chris Mungall, Melissa Haendel, Nicole Vasilevsky, Monarch Initiative, et al.
Please see license of HPO at http://www.human-phenotype-ontology.org
Emotionally unstable personality disorder, borderline type