name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


albinism

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.


name: Left superior vena cava draining directly to the left atrium

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: 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.


Pink urine

description: An abnormal pink color of urine.


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

description: Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.


Limited repertoire of facial expression

description: An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Mild receptive language delay

description: A mild delay in the acquisition of the ability to understand the speech of others.


Abnormal proportion of naive B cells

description: 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.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


Induced vaginal delivery

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

description: Bony fusion of the middle and proximal phalanges of the 5th toe.


Temporomandibular joint adhesion

description: 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.


Increased total iron binding capacity

description: 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.


name: Focal impaired awareness sensory seizure with visual features

description: A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.


Microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender.


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Aortic medial fibrosis

description: 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).


Maculopapular exanthema

description: 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.


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


Decreased circulating IgG4 level

description: A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


name: Fragmentation of the epiphysis of the distal phalanx of the hallux


Hand tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the hand.


Erythematous macule

description: 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.


Focal aware automatism seizure

description: A type of focal automatism seizure during which awareness is fully retained throughout.


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


name: Irregular epiphysis of the distal phalanx of the hallux


name: Abnormality of the distal phalanx of the hallux


Hip adductor weakness

description: Reduced ability to bring the leg toward the midline of the body.


spastic hemiplegia

description: A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body.


Decreased libido

description: Decreased sexual desire.


Sensory hypersensitivity

description: A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


name: Increased proportion of effector memory CD8-positive, alpha-beta T cells

description: 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 fecal harderoporphyrin

description: Abnormally high concentration of harderoporphyrin in feces.


Thumb extension contracture

description: Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

description: Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Wrist pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.


Prolonged QTc interval

description: 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.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


Type IV atherosclerotic lesion

description: 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.


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Elevated circulating porphyrin concentration

description: Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.


name: Symphalangism affecting the proximal phalanx of the 3rd toe


name: Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Patchy sclerosis of the distal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the distal phalanx of the second finger.


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine

description: The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.


Preauricular hair displacement

description: An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


name: Anti-platelet derived growth factor receptor

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

description: Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Interphalangeal thumb joint contracture

description: 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.


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

description: The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.


Lip pit

description: A depression located on a lip.


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Chiari malformation type II

description: Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.


Elevated right atrial pressure

description: An abnormal increase in magnitude of the pressure in the right atrium.


tongue neoplasm

description: A neoplasm (disease) that involves the tongue.


name: Transient decreased circulating total IgG

description: A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


name: Elevated circulating glycylproline concentration

description: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).


Opportunistic fungal infection

description: 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.


Fetal nuchal edema

description: Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

description: 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).


Red-brown urine

description: An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at same stages.


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

description: Absence of the liver owing to a failure of the liver to develop.


Abnormal metabolism

description: 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.


Elevated urine octanoic acid level

description: Amount of octanoic acid in the urine above the upper limit of normal.


Abnormal tarsal ossification

description: 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.


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

description: Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


name: Increased circulating heparan sulfate level

description: An abnormal increase in the concentration of heparan sulfate in the blood.


Sudden unexpected death in epilepsy

description: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

description: Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Absent uvula

description: Lack of the uvula.


name: Osteolytic defects of the middle phalanx of the 5th toe


tendinitis

description: Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body.


Anti-GlyR antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).


Hyperreflexia

description: Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.


Esophageal duplication

description: A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


name: Absent right sided atrioventricular connection

description: A defect where there is no connection between the right atrium and right ventricle.


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


Cutaneous granuloma

description: A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.


Positive lupus band test

description: Deposits of immunoglobulins and complement components along the dermoepidermal junction.


name: Substantia nigra dopaminergic neuron loss

description: Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

description: A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

description: Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


Basilar artery calcification

description: 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.


Inguinal abscess

description: A circumscribed area of pus or necrotic debris in the groin (inguinal region).


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


myoclonic-astatic epilepsy

description: Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.


name: Abnormality of frontal process of maxilla

description: An abnormality of a frontal process of the maxilla bone.


alcohol dependence

description: Physical and psychological dependence on alcohol.


Bent sperm flagella

description: The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


name: Ivory epiphysis of the middle phalanx of the 5th finger

description: 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.


name: Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

description: An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.


name: Impaired epinephrine-induced platelet aggregation

description: Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


name: Abnormal morphology of the proximal phalanx of the 2nd toe


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


aplasia cutis congenita

description: Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.


Unicuspid aortic valve

description: The presence of an aortic valve with one instead of the normal three cusps (flaps).


Vocal cord paresis

description: Decreased strength of the vocal folds.


Bilateral intracerebral calcifications

description: Deposition of calcium salts on both sides of the cerebrum.


Y-shaped metatarsals

description: 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.


name: Aplasia cutis congenita of midline scalp vertex


name: Abnormal thyroid-stimulating hormone level

description: 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.


vaginal neoplasm

description: A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


name: Bilateral single transverse palmar creases

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.


Episodic fatigue

description: Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

description: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

description: A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


Animal dander allergy

description: Hypersensitivity in form of an adverse immune reaction against animal dander.


name: Increased circulating complement factor H related protein 1 concentration

description: Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


name: Elevated circulating alanine aminotransferase concentration

description: An abnormally high concentration in the circulation of alanine aminotransferase (ALT).


name: Focal aware cognitive seizure with illusion

description: A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.


name: Focal impaired awareness cognitive seizure

description: A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


name: Ivory epiphysis of the proximal phalanx of the 3rd toe


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Sparse anterior scalp hair

description: Decreased number of head hairs per unit area on the anterior region of the scalp.


Complete tracheal ring

description: Continuous or nearly continuous configuration of the cartilaginous tracheal ring.


Herpetiform vesicles

description: Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


name: Complete duplication of the middle phalanx of the 2nd toe

description: Complete duplication of middle phalanx of second toe.


name: Ivory epiphysis of the proximal phalanx of the 4th toe


Fetal abdominal cyst

description: Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

description: The onset of puberty before the age of 9 years in boys.


Prolonged central motor conduction time

description: Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


Anti-pituitary antibody positivity

description: Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


name: diffuse nonepidermolytic palmoplantar keratoderma

description: A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis.


Curved 4th toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the fourth toe.


name: Sclerosis of the proximal phalanx of the 5th finger


EEG with temporal focal spike waves

description: 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.


name: Abnormal circulating enzyme concentration

description: The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.


name: Abnormal circulating hyaluronic acid concentration

description: A deviation from the normal concentration of hyaluronic acid in the blood.


name: Focal sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


Hyperplasia of the Leydig cells

description: Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Anti-thyroglobulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

description: Hypersensitivity in form of an adverse immune reaction against parasites.


metachromasia of fibroblasts

description: Increased cytoplasmic staining of fibroblasts with toluidine blue.


Polygonal renal calices

description: An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


Cutaneous anergy

description: Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


name: Impaired cortisol response to insulin stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Onychogryposis

description: Nail that appears thick when viewed on end.


name: Hyperdynamic left ventricular ejection fraction

description: An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

description: A partial or complete breakage of the metacarpus skeleton.


Widow's peak

description: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Abnormal HDL2a concentration

description: 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.


name: Dust particle inclusion in alveolar macrophages

description: Accumulation of inhaled, nondigestable particles in macrophages.


Abnormal blood potassium concentration

description: An abnormal concentration of potassium.


name: Triangular shaped distal phalanx of the 2nd toe


Long term memory impairment

description: A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


Neutrophilic infiltration of the skin

description: A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


name: telangiectasia macularis eruptiva perstans


Foot osteomyelitis

description: An infection of bone of the foot.


name: Calcification of the small brain vessels

description: Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

description: Absence or underdevelopment of the mandible.


Stroke-like episode

description: 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.


Left ventricular thrombus

description: A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Abnormal glomerular filtration rate

description: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


inner ear neoplasm

description: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

description: A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

description: Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Coronary ostial atresia

description: 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.


Anterior pituitary agenesis

description: Absence of the anterior pituitary gland resulting from a developmental defect.


Weakness of muscles of respiration

description: 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.


name: Paresis of extensor muscles of the big toe


Joint swelling

description: The presence of swelling in a joint.


Decreased urinary 3-methylhistidine

description: Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

description: Divergence of digits along the anteroposterior axis (in the plane of the sole).


isolated congenital adermatoglyphia

description: Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles.


name: Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


name: Complete right sided absence of pericardium

description: 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.


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

description: Lack of formation of the palatine bone.


Arteria lusoria

description: 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.


name: Delayed somatosensory central conduction time

description: An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).


Olivopontocerebellar hypoplasia

description: Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Galactosuria

description: Elevated concentration of galactose in the urine.


Myoclonic absence seizure

description: Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

description: 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.


Coronary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Prenatal double bubble sign

description: Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

description: Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hydroureter

description: The distention of the ureter with urine.


name: Cortical radial artery intima/media arteriosclerosis

description: Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Palmar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand.


name: Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

description: 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.


name: Ivory epiphysis of the middle phalanx of the 2nd toe


name: Elevated circulating o-phosphoethanolamine concentration

description: An increased concentration of o-phosphoethanolamine in the blood circulation.


Gastric volvulus

description: A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.


Migrating focal seizure

description: A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


Elevated urinary inosine level

description: The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Anti-contactin-associated protein 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.


Short foot

description: 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).


name: congenital pulmonary airway malformation

description: An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


name: Milky appearance of bronchoalveolar lavage fluid

description: Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


name: Abnormal circulating collagen degradation product concentration

description: Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Translamellar mucoid extracellular matrix accumulation

description: 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.


name: Left ventricular noncompaction cardiomyopathy

description: 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.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


name: Elevated urinary 2-oxovaleric acid level

description: The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of abdominal situs

description: An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.


Lack of insight

description: Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.


Pharyngeal edema

description: Abnormal accumulation of fluid leading to swelling of the pharynx.


Patchy sclerosis of toe phalanx

description: Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.


Bullet-shaped 2nd toe phalanx

description: 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.


name: Abnormal proportion of central memory CD4-positive, alpha-beta T cells

description: 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.


Reflex asystolic syncope

description: A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.


Marginal umbilical cord insertion

description: Insertion of the umbilical cord within 2 cm from the placental edge.


Hypoamylasemia

description: 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.


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


name: Yellow subcutaneous tissue covered by thin, scaly skin


Spastic gait

description: 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.


name: Cerebellar ataxia associated with quadrupedal gait

description: 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).


name: Diminishment of comfort with casual physical contact

description: A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.


Peripheral edema

description: An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.


Lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


Abnormal midbrain morphology

description: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


name: Elevated circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.


name: Abnormal level of platelet-activating factor


Factor X activation deficiency

description: Reduced ability to transform factor X into its activated form factor Xa.


Absent toenail

description: Congenital absence of the toenail.


Amyelia

description: Congenital absence of the spinal cord.


Abnormality of premolar

description: An abnormality of premolar tooth.


Agalactia

description: Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


name: Abnormality of the hypothalamus-pituitary axis

description: 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.


Anti-factor XIII antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor XIII.


Toenail dysplasia

description: An abnormality of the development of the toenails.


Oral bleeding

description: Bleeding originating from the mouth.


name: Absent epiphysis of the distal phalanx of the 4th toe


3-methylglutaconic aciduria

description: A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.


Increased proportion of memory T cells

description: An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Neonatal electro-clinical tonic seizure

description: Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


Cystathioninemia

description: An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

description: Developmental hypoplasia of one or more phalanx of little toe.


Hypomature dental enamel

description: A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.


name: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

description: The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Inappropriately normal thyroid-stimulating hormone level

description: A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


name: familial isolated hypoparathyroidism due to agenesis of parathyroid gland

description: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).


name: Thyrotoxicosis with toxic multinodular goiter


Papillary dermal edema

description: Swelling due to fluid acculuation of the papillary dermis.


name: Increased CSF N-acetylaspartic acid concentration

description: An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

description: The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


name: Abnormal circulating heparan sulfate level

description: An abnormal level of heparan sulfate in the blood.


Diastasis recti

description: A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).


name: Anti-glutamic acid decarboxylase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.


name: Chromosomal breakage induced by ionizing radiation

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.


Curved 2nd toe phalanx

description: A deviation from the normal straight form of one or more phalanges of the second toe.


Thyroid hyperplasia

description: Hyperplasia of the thyroid gland.


neoplasm of testis

description: A neoplasm (disease) that involves the testis.


Proprioceptive-induced seizure

description: A seizure precipitated by movement or a change in posture.


Increased skull ossification

description: An increase in the magnitude or amount of ossification of the skull.


Knee flexion contracture

description: A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


name: Anti-salivary protein antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.


Pineal gland calcification

description: Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

description: A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


name: Elevated brain N-acetyl aspartate level by MRS

description: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


2-5 toe syndactyly

description: Syndactyly with fusion of toes two to five.


Carnosinuria

description: An increased concentration of carnosine in the urine.


name: Hypertension associated with pheochromocytoma

description: A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

description: An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.


Abnormal perceptual state

description: Temporary alteration of the awareness of reality or self-perception.


Nasogastric tube feeding

description: The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.


Anti-ganglioside antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


Defective B cell differentiation

description: 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.


name: Absent microvilli on the surface of peripheral blood lymphocytes

description: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


spondyloepimetaphyseal dysplasia

description: An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.


Progressive distal muscle weakness

description: Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


Self-injurious behavior

description: Self-aggression.


Reduced antral follicle count

description: A count of antral follicles that is lower than normal for age.


Focal impaired awareness clonic seizure

description: A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.


Abnormal speech rhythm

description: Speech with abnormal rhythm or pattern


Wide space between 4th and 5th toe

description: A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Hypoganglionosis

description: Sparse and small myenteric ganglia


Mesangiolysis

description: Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

description: A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

description: A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


Eruptive xanthomas

description: 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.


name: Cardiac total anomalous pulmonary venous connection

description: Type 2 total anomalous pulmonary venous connection.


name: Fractured proximal phalanx of pedal digit 1

description: A partial or complete breakage of the proximal phalanx of pedal digit 1.


Anti-class II HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

description: A structural anomaly of a male reproductive cell.


Fetal oral mass

description: A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.


Claw hand deformity

description: An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Altman type III sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


name: Persistent asymmetrical tonic neck reflex

description: Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


name: mitochondrial complex II deficiency, nuclear type 1

description: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.


Anterior open-bite malocclusion

description: Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Atherosclerotic lesion

description: 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.


Skip lesions on temporal artery biopsy

description: Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.


Proximal hyperreflexia

description: Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

description: Seborrheic dermatitis that is not localized to any one particular region.


name: Increased proportion of CD8-positive, alpha-beta TEMRA T cells

description: An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


name: Increased circulating lactate concentration

description: 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).


Skin pit

description: A small, skin-lined tract that leads from the surface to deep within the tissues.


Palmoplantar hypohidrosis

description: Decreased sweating on the palms and soles.


Abnormal endocrine physiology

description: Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

description: 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.


Nevus flammeus of the forehead

description: Naevus flammeus localized in the skin of the forehead.


Abnormal calvaria morphology

description: Abnormality of the morphology (structure) 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.


Unguarded tricuspid valve

description: 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.


name: Decreased distal sensory nerve action potential

description: A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.


Enlarged brainstem

description: Abnormal increase in size of the brainstem.


name: Sclerosis of the middle phalanx of the 5th finger


Low semen volume

description: Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.


antecubital pterygium syndrome

description: 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.


Curvilinear subcortical heterotopia

description: 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.


Biliary hyperplasia

description: 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.


Abnormal stomach morphology

description: An abnormality of the stomach.


Hyperfibrinogenemia

description: Increased concentration of fibrinogen in the blood.


Megarectum

description: 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.


name: Abnormal circulating sulfur amino acid concentration

description: Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.


name: Focal aware sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache.


name: Abnormality of the middle phalanx of the 5th toe


Four-vessel umbilical cord

description: Four-vessel umbilical cord containing two arteries and two veins.


Abnormal glial cell morphology

description: An abnormality of the glia cell.


Coronal craniosynostosis

description: Premature closure of the coronal suture of skull.


name: Delay in the acquisition of cooperative play skills

description: Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.


Poor appetite

description: A reduced desire to eat.


Balanced double aortic arch

description: 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.


Duodenal gastric metaplasia

description: Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.


Abnormal platelet lysosome secretion

description: Abnormal release of lysosome contents from platelets.


Atrioventricular valve regurgitation

description: Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


Localized pulmonary hemorrhage

description: Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.


Altman type I sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.


lethal infantile mitochondrial myopathy

description: Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.


name: Mixed total anomalous pulmonary venous connection

description: Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

description: Increased bone density of the skull base without significant changes in bony contour.


Areflexia of upper limbs

description: Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

description: The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

description: An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.


Malrotation of colon

description: An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.


Ectopic pancreatic tissue

description: The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.


Broad philtrum

description: 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.


Abnormal subpleural morphology

description: Any structural anomaly located between the pleura and the chest wall.


Hypoplastic right atrium

description: Underdeveloped, small right heart atrium.


Rounded atelectasis

description: Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.


Abnormal shoulder morphology

description: An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.


Neck hypertonia

description: Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

description: Atresia in the intrahepatic bile duct.


name: Anti-Complement factor H antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.


name: Use of another person's body to communicate

description: Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.


High, narrow palate

description: The presence of a high and narrow palate.


Progeroid facial appearance

description: 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.


Anti-beta fodrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.


dysgammaglobulinemia

description: An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins.


name: Increased level of gamma-aminobutyric acid in urine

description: Elevated concentration of gamma-aminobutyric acid in the urine.


Abnormal EKG

description: Abnormal rhythm of the heart.


Right ventricular dilatation

description: Enlargement of the chamber of the right ventricle.


name: Abnormal bronchoalveolar fluid protein level

description: Any deviation from the normal concentration of protein in the bronchoalveolar fluid.


Elevated coagulation factor V activity

description: 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.


Thin lower lip vermilion

description: 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).


Esophageal obstruction

description: Blockage of the normal flow of the contents in the esophagus.


Decreased thalamic volume

description: A reduction in the quantity of space occupied by the thalamus.


cobblestone lissencephaly

description: Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent.


Respiratory arrest

description: Cessation of breathing function.


Bilateral talipes equinovarus

description: Bilateral clubfoot deformity.


Delayed menarche

description: First period after the age of 15 years.


Polyclonal elevation of IgM

description: A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Abnormal male reproductive system physiology

description: An abnormal functionality of the male genital system.


Brittle scalp hair

description: Fragile, easily breakable scalp hair.


monilethrix

description: Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.


Inappropriate laughter

description: Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).


name: Perisylvian predominant thick cortex pachygyria

description: Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.


Elevated circulating rT3/T3 ratio

description: An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


name: Decreased circulating androgen concentration

description: 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.


acoustic neuroma

description: A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing.


name: Congenital hypertrophy of left ventricle


name: Increased circulating 18-hydroxycortisone level

description: An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.


Primary vesicoureteral reflux

description: Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.


name: Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

description: An abnormality of filling of a ventricle with blood during diastole.


Hippocampal microinfarct

description: An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.


name: Anti-Gerbich phenotype 1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.


Multinucleated neuron

description: Neurons that contain more than one nucleus.


Neonatal electro-clinical motor seizure

description: Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.


name: Supraventricular tachycardia with a concealed accessory pathway on the septum


Abnormal renal vascular morphology

description: Anomalous structure of a blood vessel in the kidney.


Torus palatinus

description: A bony protrusion present on the midline of the hard palate.


Imperforate atrioventricular valve

description: An atrioventricular valve that has failed to open (atretic).


name: Pulmonary situs ambiguus with bilateral morphologic right lungs

description: 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.


Unicoronal synostosis

description: Synostosis affecting only one of the coronal sutures.


name: Fractured epiphysis of third metatarsal bone

description: A partial or complete breakage of the epiphysis of third metatarsal bone.


name: Ivory epiphysis of the proximal phalanx of the 5th toe


hereditary episodic ataxia

description: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.


Deviation of the hallux

description: Displacement of the big toe from its normal position.


name: Focal autonomic seizure with lacrimation

description: A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.


Rheumatoid factor positive

description: The presence in the serum of an autoantibody directed against the Fc portion of IgG.


name: Increased erythrocyte uroproporphyrin concentration

description: Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.


name: Focal impaired awareness emotional seizure with crying

description: Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.


Intestinal duplication

description: A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.


name: Increased urinary fucosylated oligosaccharide

description: An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.


Decreased palmar creases

description: Poorly defined or shallow palmar creases.


Elbow flexion contracture

description: An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.


Mandibular osteomyelitis

description: Osteomyelitis of the lower jaw.


Prevertebral space enlargement

description: Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.


name: Sclerosis of the distal phalanx of the 2nd finger


Proximal muscle weakness

description: A lack of strength of the proximal muscles.


Hallux valgus

description: Lateral deviation of the great toe (i.e., in the direction of the little toe).


Antinuclear antibody positivity

description: The presence of autoantibodies in the serum that react against nuclei or nuclear components.


Absent dermoepidermal hemidesmosomes

description: Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.


Elevated serum anion gap

description: An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).


Fractured lateral malleolus of fibula

description: A partial or complete breakage of the lateral malleolus of fibula.


Sternocleidomastoid amyotrophy

description: Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.


description: Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.


Bladder trabeculation

description: Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.


Abnormal lymphocyte proliferation

description: Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.


Reduced alpha-2-antiplasmin activity

description: Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.


dentin dysplasia

description: Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.


T2 hypointense brainstem

description: 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.


name: Anti-granulocyte-macrophage colony stimulating factor antibody positivity

description: The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.


Eclabion

description: A turning outward of the lip or lips, that is, eversion of the lips.


Facial hypertrichosis

description: Excessive, increased hair growth located in the facial region.


odontoid hypoplasia

description: An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations.


Flexion contracture of the 5th toe

description: One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.


name: autosomal recessive nonsyndromic hearing loss 4

description: An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.


Abnormal upper motor neuron morphology

description: Any structural anomaly that affects the upper motor neuron.


Myocardial immune cell infiltration

description: An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).


name: Medullary peritubular capillary lumen cholesterol emboli

description: Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


Glomerular immune-complex deposition

description: Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.


Recurrent fractures

description: The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).


Abnormality of the tongue

description: Any abnormality of the tongue.


Gastrointestinal dysmotility

description: 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.


Fatty streak

description: Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.


Arcuate artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.


Abnormal jejunum morphology

description: An abnormality of the jejunum, i.e., of the middle section of the small intestine.


name: Decreased circulating ficolin 3 concentration

description: Concentration of ficolin 3 in the blood circulation below the lower limit of normal.


Fetor hepaticus

description: 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.


name: Patchy sclerosis of the proximal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.


Chronotropic incompetence

description: Inability of the heart to increase its rate commensurate with increased activity or demand.


Decreased serum thromboxane B2

description: A reduction in the concentration of thromboxane B2 in the blood circulation.


D-2-hydroxyglutaric aciduria

description: D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.


Elevated urine glycolate

description: An increased concentration of glycolate in the urine.


Pulmonary arterial medial hypertrophy

description: Increase in mass of the tunica media of the arteries in the pulmonary circulation.


Aganglionosis of the small intestine

description: A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.


name: Percussion-induced rapid rolling muscle contractions

description: 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.


Curved distal phalanx of the hallux

description: A deviation from the normal straight form of the distal phalanx of the big toe.


Limb pain

description: Chronic pain in the limbs with no clear focal etiology.


Focal verbal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.


4-Hydroxyphenylpyruvic aciduria

description: Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.


Cutaneous cyst

description: 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.


name: Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration

description: The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Positive enterovirus urine nucleic acid test

description: Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.


Cervical lymphadenopathy

description: Enlarged lymph nodes in the neck.


Quadriceps muscle atrophy

description: Muscular atrophy involving the quadriceps muscle.


name: Pseudoepiphysis of the middle phalanx of the 5th toe

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.


Ungual fibroma

description: 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).


name: Abnormal pulmonary thoracic imaging finding

description: 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.


Exercise-induced U wave inversion

description: U wave inversion that is induced by exercise stress testing.


name: Agenesis of permanent maxillary lateral incisor

description: Agenesis of one or more upper lateral secondary incisor.


name: Elevated circulating pristanic acid concentration

description: Concentration of pristanic acid in the blood circulation above the upper limit of normal.


Abnormal pericardium morphology

description: 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.


Extremely elevated creatine kinase

description: An increased creatine kinase level more than 50X above the upper normal level.


Labial adhesion

description: Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.


Bradylalia

description: Slow speech.


3-4 finger syndactyly

description: Syndactyly with fusion of fingers three and four.


Hyperchloremic metabolic acidosis

description: A form of metabolic acidosis with increased serum chloride levels.


name: Compound motor action potential abnormality

description: An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).


name: Elevated circulating lysophosphatidylcholine concentration

description: The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal.


Distal amyotrophy

description: Muscular atrophy affecting muscles in the distal portions of the extremities.


2--hydroxyphenylacetic aciduria

description: Increased concentration of 2-hydroxyphenylacetic acid in the urine.


Purely bicuspid aortic valve

description: 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.


Increased cerebral lipofuscin

description: 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.


Abnormal fingertip morphology

description: An abnormal structure of the tip (end) of a finger.


Myocardial sarcomeric disarray

description: 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 actin 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.


name: Abnormality of the phalanges of the 5th toe


Curved distal phalanx of the 2nd toe

description: A deviation from the normal straight form of the distal phalanx of the 2nd toe.


name: Thinning of outer muscular layer of small bowel

description: The depth of the outer muscular layer of the small bowel is below the lower limit of normal.


name: Absence of renal corticomedullary differentiation

description: A lack of differentiation between renal cortex and medulla on diagnostic imaging.


name: Partial duplication of the distal phalanx of the 3rd toe

description: Partial duplication of distal phalanx of third toe.


Seminal vesicle agenesis

description: A developmental defect characterized by congenital absence of the seminal vesicle.


Toe clinodactyly

description: Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).


name: Focal aware cognitive seizure with auditory agnosia

description: A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.


name: Abnormality of the distal phalanx of the 3rd toe


Visceral hemangioma

description: A hemangioma arising from within visceral structures, the internal organs of the body.


name: Diminished integration of verbal and non-verbal communicative behavior

description: A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.


Intratubular calcium phosphate casts

description: Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.


Spinal neurenteric cyst

description: A neurenteric cyst located in the spine.


Anti-GD1b IgM antibody positivity

description: The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.


name: Atrophy/Degeneration involving the caudate nucleus


name: Anti-nuclear matrix protein-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.


Oligosacchariduria

description: Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.


Amniotic constriction rings of legs

description: Amniotic constriction rings affecting the legs.


Mesangial fibrillary deposits

description: Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.


Thin spermatozoon midpiece

description: The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.


Limb apraxia

description: Difficulty in performing the correct execution of limbs movements in absence of motor impairment.


Abnormality of genioglossus muscle

description: An abnormality of a genioglossus muscle.


Joint contracture of the 3rd finger

description: 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.


Prefrontal hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.


name: Intrahepatic cholestasis with episodic jaundice


Reticulate pigmentation of oral mucosa

description: A net-like pattern of increased pigmentation of the oral cavity.


Corpus callosum atrophy

description: The presence of atrophy (wasting) of the corpus callosum.


Pill-rolling tremor

description: A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.


Acute bronchitis

description: 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.