Truncus arteriosus

description: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

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

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


Squawks

description: Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


name: Fractured distal epiphysis of distal phalanx of manual digit 1

description: A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.


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

description: A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


name: Partial duplication of the distal phalanges of the hand

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


name: Arteriovenous malformation of the maxilla

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.


Decreased circulating IgG3 level

description: A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Axillary epidermoid cyst

description: An epidermoid cyst in the armpit.


name: Abnormal metacarpal epiphysis morphology


Esophageal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.


name: Elevated circulating proinsulin concentration

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


Impaired distal proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


Hemiatrophy of lower limb

description: Unilateral atrophy (reduction in size) of a leg.


name: Glomerular endocapillary leukocyte hypercellularity

description: Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Morgagni diaphragmatic hernia

description: An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Periarticular soft-tissue mass

description: A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


Abnormal cardiac atrial physiology

description: An abnormality of the function of the cardiac atria.


Anti-H1 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H1.


name: Supraventricular tachycardia with a manifest accessory pathway


Long metacarpals

description: An abnormally increased length of the metacarpal bones.


Meteorism

description: An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.


Carpometacarpal synostosis

description: Fusion involving carpal and metacarpal bones.


Pulmonary artery adventitial fibrosis

description: Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.


Myoclonic seizure

description: A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


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


High urinary gonadotropin level

description: An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.


Bowel diverticulosis

description: The presence of multiple diverticula of the intestine.


Abnormal nasal bone morphology

description: An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.


Abnormal CSF metabolite concentration

description: Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.


Tibial metaphyseal irregularity

description: Irregularity of the normally smooth surface of a metaphysis of a tibia.


Abdominal wall defect

description: An incomplete closure of the abdominal wall.


T-shaped uterus

description: An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.


brachydactyly type A5

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

description: Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.


name: Stippling of the epiphysis of the distal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.


name: Facial expressions that do not match the context

description: Production of facial expressions that are misaligned with the social context.


Palatal tremor

description: Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.


name: Absent end-diastolic umbilical artery flow

description: An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.


Increased CSF taurine concentration

description: Increased concentration of taurine in the cerebrospinal fluid (CSF).


narcolepsy

description: A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day.


name: Paradoxical increased cortisol secretion on dexamethasone suppression test


Increased fecal pentacarboxylporphyrin

description: Abnormally high concentration of pentacarboxylporphyrin in feces.


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

description: Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.


Photosensitive tonic-clonic seizure

description: Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.


name: Sclerosis of the middle phalanx of the 2nd toe


Pseudoepiphyses of the 3rd finger

description: A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.


Plaque-like facial hemangioma

description: Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.


Abnormal fetal nasal bone visualization

description: Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.


Action myoclonus

description: A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Abnormal HDL cholesterol concentration

description: Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.


name: Increased density of left ventricular trabeculae

description: An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).


name: Advanced pneumatization of the mastoid process

description: An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.


Acetabular spurs

description: The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.


name: Reduced hepatic fructose-1,6-phosphate aldolase activity

description: Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal.


name: Focal autonomic seizure with pupillary dilation/constriction

description: A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.


Vertebral artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .


Joint hypermobility

description: The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.


name: Elevated circulating hydroxybutyric acid concentration

description: An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.


Elbow pain

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


Aplastic clavicle

description: Absence of the clavicles as a developmental defect.


Peroneal muscle atrophy

description: Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).


name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger

description: Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Flattened metatarsal heads

description: Abnormally flat shape of the heads of the metatarsal bones.


Phimosis

description: The male foreskin cannot be fully retracted from the head of the penis.


EBV meningitis

description: Inflammation of the meninges related to infection by Epstein-Barr virus.


name: Bicuspid aortic valve with right-left cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.


High serum osmolality

description: Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal.


Multiple small bowel atresias

description: The presence of multiple areas of atresia affecting the small intestine.


name: Abnormal circulating prealbumin concentration

description: Any deviation from normal concentration of albumin in the blood circulation.


name: Abnormality of prenatal development or birth

description: An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.


complete atrioventricular canal

description: Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow.


Chiari malformation type 3

description: A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.


Recurrent fungal infections

description: Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.


Positive CSF nucleic acid pathogen test

description: Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.


Self-biting

description: Habitual biting of one's own body.


Triangular tibia

description: A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.


Selective mutism

description: Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Decreased muscle caveolin-3 level

description: The amount of calveolin-3 in muscle tissue is below the lower limit of normal.


Loose association

description: Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.


Genu varum

description: A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.


name: Organized thrombi within interlobular vein lumen

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.


Prominent inferior crus of antihelix

description: Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.


Labial abscess

description: A circumscribed area of pus or necrotic debris in the labia.


Axonal regeneration

description: The presence of axonal regeneration following a previous axonal lesion.


description: Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.


name: Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.


Carpal bone hypoplasia

description: Underdevelopment of one or more carpal bones.


Hypoplastic acetabulae

description: Underdeveloped acetabulae.


Cleft of chin

description: Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.


Peripheral lung neovascularity

description: The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.


U-Shaped upper lip vermilion

description: Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.


Abnormal synaptic transmission

description: An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.


Edema of the dorsum of feet

description: An abnormal accumulation of fluid beneath the skin on the back of the feet.


name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger

description: Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.


Postural tremor

description: A type of tremors that is triggered by holding a limb in a fixed position.


name: Aplasia of the distal phalanges of the toes

description: Absence of the distal phalanges of the toes.


Craniofacial hyperostosis

description: Excessive growth of the craniofacial bones.


name: Abnormality of the kinin-kallikrein system


Abnormal urine output

description: An abnormal amount of urine production.


Fibrofolliculoma

description: Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.


name: Mesial parasagittal subcortical heterotopia

description: Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.


name: Abnormal resting energy expenditure from metabolic cart test

description: Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


name: Abnormal umbilical blood flow measurement


name: 2nd-5th toe middle phalangeal hypoplasia


Abnormality of dorsal nasal artery

description: An abnormality of a dorsal nasal artery.


Broad 3rd toe

description: A broad appearance of the third toe.


Abnormal urine carboxylic acid level

description: Any deviation from the normal concentration of a carboxylic acid in the urine.


Ventral hernia

description: Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.


renal hypomagnesemia 2

description: Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.


name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger

description: A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.


Branchial fistula

description: A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.


name: Abnormal circulating biotinidase concentration

description: An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.


Painless fractures due to injury

description: An increased tendency to fractures following trauma, with fractures occurring without pain.


name: Elevated circulating isovalerylcarnitine concentration

description: Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.


Abnormality of dental color

description: A developmental defect of tooth color.


Middiastolic murmur

description: A murmur that occurs in the middle of the diastolic phase.


Vaginal birth after Caesarian

description: Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.


Abnormal pattern of respiration

description: An anomaly of the rhythm or depth of breathing.


Decreased circulating osteocalcin level

description: A reduced level of osteocalcin in the blood.


Palatine myxoma

description: A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.


Fetal neck mass

description: An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.


Air bronchogram

description: An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).


name: Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level

description: An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.


name: Abnormality of the lumbosacral nerve plexus

description: Any abnormality of the lumbosacral nerve plexus.


name: Pulmonary interstitial lymphocyte infiltration

description: Abnormal accumulation of lymphocytes in the interstitium of the lung.


linear nevus sebaceous syndrome

description: Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).


name: Elevated circulating D-glyceric concentration

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


Abnormality of canine

description: An abnormality of canine tooth.


Laryngeal obstruction

description: Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.


name: Osteolytic defects of the middle phalanges of the toes


Anti-GluK2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).


Anti-sphingolipid antibody positivity

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


Synostosis involving the 1st metacarpal

description: Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Delayed eruption of primary teeth

description: Delayed tooth eruption affecting the primary dentition.


name: Bullet-shaped middle phalanx of the 2nd toe

description: An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Incomplete ossification of pubis

description: Failure to complete ossification (maturation and calcification) of the pubic bone.


name: Focal impaired awareness undressing automatism seizure

description: A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.


Abnormality of the acoustic reflex

description: An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.


Spastic triplegia

description: Spastic weakness found in both lower extremities and one upper extremity.


name: Abnormality of the distal phalanx of the thumb

description: Any anomaly of the distal phalanx of thumb.


Absent fifth metatarsal

description: A developmental abnormality characterized by the absence of the fifth metatarsal bone.


Bulging of the costochondral junction

description: Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.


Sulfur-containing abscess

description: An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.


name: Premature delivery because of cervical insufficiency or membrane fragility


name: Increased sialylation of N-linked protein glycosylation

description: Increased addition of sialic acids to N-linked glycans.


name: Irregular articular surfaces of the elbow joints


Abnormal scapula morphology

description: Any abnormality of the scapula, also known as the shoulder blade.


Midline notching of lower lip

description: Exaggerated indentation at the very middle (midline) of the lower lip.


Scaling skin on fingertip

description: Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.


Hyperperistalsis

description: Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.


Primitive reflex

description: The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.


Abnormal relationship

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.


3-4 toe syndactyly

description: Syndactyly with fusion of toes three and four.


name: Increased urine sebacic acid concentration

description: Elevated concentration of sebacic acid in the urine.


Toenail onycholysis

description: Painless and spontaneous separation of a toenail from the nail bed.


name: Focal impaired awareness behavior arrest seizure

description: A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.


Persistent CMV viremia

description: Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.


Subcutaneous neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).


name: Inappropriately low concentration of acetoacetate

description: Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.


Medication crystalluria

description: A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usally favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.


Chronic absent circulating IgE

description: A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.


Dense metaphyseal bands

description: Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.


name: Abnormal proportion of exhausted T cells

description: A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.


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


Delusion of infidelity

description: A false belief that a person is the victim of his or her partner's unfaithfulness.


Macular purpura

description: Purpura that is flat (non-palpable, not raised).


Short middle phalanx of toe

description: Developmental hypoplasia (shortening) of middle phalanx of toe.


Cerebral white matter hypoplasia

description: Underdevelopment of the cerebral white matter.


Abnormal pulmonary vein morphology

description: An abnormality of the structure of the pulmonary veins.


name: Abnormal proximal femoral metaphysis morphology

description: An anomaly of the metaphysis of the proximal femur (close to the hip).


Irregular capital femoral epiphysis

description: Irregular surface of the normally relatively smooth capital femoral epiphysis.


name: Anomalous origin of left pulmonary artery from ascending aorta

description: The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.


name: Elevated CSF 14-3-3 protein concentration

description: The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


scrotum neoplasm

description: A benign or malignant neoplasm that affects the scrotum.


Late systolic murmur

description: A murmur that occurs in the latter phase of systole.


Abnormal atrial arrangement

description: Abnormality of the spatial relationship of the atria to other components of the heart.


Decreased need for sleep

description: There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.


Supraumbilical raphe

description: An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).


Impaired renal uric acid clearance

description: A reduction in the ability of the kidneys to remove uric acid from the serum.


Supravalvar pulmonary stenosis

description: A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


name: Supraventricular tachycardia with a concealed accessory pathway on the left free wall


Anti-AMPAR antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).


Elevated urinary indican level

description: Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.


Patchy changes of bone mineral density

description: Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).


name: Elevated urinary 3-hydroxyadipic acid level

description: The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


EEG with occipital sharp waves

description: EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.


name: Increased monosialylated core 1 O-glycan level

description: An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.


name: Deficiency or absence of cytochrome b(-245)


name: Increased circulating interleukin 15 concentration

description: The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal.


Axillary apocrine gland hypoplasia

description: Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.


Abnormal antral follicle count

description: Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.


tracheal disorder

description: A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma.


true hermaphroditism

description: A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.


apodia

description: The total absence of the foot, with no bony elements distal to the tibia or fibula.


name: Focal impaired awareness cognitive seizure with illusion

description: A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.


Intramural intestinal gas

description: The presence of extraluminal gas within the bowel wall.


name: Focal impaired awareness emotional seizure with agitation

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


Absent middle phalanx of 5th finger

description: Absence of the middle phalanx of the little (5th) finger.


Orthotopic os odontoideum

description: Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.


Meconium pseudocyst

description: A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.


Decreased proportion of memory B cells

description: A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).


name: Elevated circulating vitamin B12 concentration

description: Concentration of vitamin B12 in the blood circulation above the upper limit of normal.


name: Abnormal CSF homocarnosine concentration

description: Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.


complement component 4b deficiency

description: Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene.


Abnormal Eustachian tube morphology

description: A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.


Abnormal CSF neopterin concentration

description: Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).


Third heart sound

description: The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.


Acute aspiration pneumonia

description: An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.


Elevated urinary vanillylmandelic acid

description: An increased concentration of vanillylmandelic acid in the urine.


Angiokeratoma circumscriptum naeviforme

description: A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


Chronic (near) absent circulating IgG1

description: A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.


name: Abnormal circulating 7-dehydrocholesterol concentration

description: Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.


Polyembolokoilamania

description: Habitual insertion of foreign bodies into bodily orifices.


Kidney teratoma

description: A teratoma located in a kidney.


name: Post-vaccination varicella zoster virus infection

description: Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise.


Umbilical vein varix

description: Focal dilation of the umbilical vein.


Midline defect of the nose

description: This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.


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


Abnormal facial vein morphology

description: An abnormality of a facial vein.


Absent scaphoid

description: Congenital absence of the scaphoid..


Absent second fingernail

description: Absence of the fingernail of the index (second) finger.


Enlarged sylvian cistern

description: An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).


name: Complete duplication of the proximal phalanx of the 2nd finger

description: Complete duplication of the second proximal phalanx of hand.


name: Abnormal circulating transferrin concentration

description: Any deviation from the normal concentration of transferrin in the blood circulation.


name: Bullet-shaped phalanges of the 4th finger

description: A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Pear-shaped vertebrae

description: Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.


name: Abnormality of depressor anguli oris muscle

description: An abnormality of a depressor anguli oris muscle.


Circulating immune complexes

description: Persistence of immune complexes in the blood circulation.


Pulsatile tinnitus

description: Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.


Joint stiffness

description: Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.


Elevated urinary epinephrine level

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


name: Abnormal circulating androstenedione concentration

description: Any deviation from the normal concentration of androstenedione in the blood circulation.


name: Abnormal arcuate vein intima/media morphology

description: Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.


name: Symphalangism of middle phalanx of 4th finger

description: Fusion of the middle phalanx of the 4th finger with another bone.


name: Bullet-shaped proximal phalanx of the 4th finger

description: Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.


Elevated umbilical artery pulsatility

description: Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.


Decreased T cell activation

description: Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Dilated ejaculatory duct

description: Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.


Crazy paving pattern

description: The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.


Bipartite calcaneus

description: A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.


Heat intolerance

description: The inability to maintain a comfortable body temperature in warm or hot weather.


Interhemispheric cyst

description: Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.


name: Decreased activity of mitochondrial complex I

description: A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.


Therapeutic abortion

description: Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.


Patellar overgrowth

description: Excessive growth of the kneecap (patella).


Abnormal coagulation factor V activity

description: Any deviation from the activity of coagulation factor V.


Dermal sinus tract

description: A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.


Elevated urine acetoacetic acid level

description: Elevated amount of acetoacetic acid in the urine.


Paradoxical embolism

description: Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.


name: Aplasia of the proximal phalanges of the hand


Anti-PM-Scl100 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.


Aplasia of the tarsal bones

description: Absence of the tarsal bones.


Skeletal muscle hyperechogenicity

description: An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.


3-5 toe syndactyly

description: Syndactyly with fusion of toes three to five.


name: Small epiphysis of the proximal phalanx of the thumb

description: Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.


Dimple on nasal tip

description: An abnormal indentation of the skin in the region of the nasal tip.


name: Decreased circulating beta-C-terminal telopeptide concentration

description: A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Osteoporotic tarsals

description: Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Long-tract signs

description: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.


name: Abnormal interlobular vein intima/media morphology

description: Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.


name: Reduced circulating cholinesterase activity

description: Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.


Paraspinal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.


Anti-vinculin antibody positivity

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


name: Hypersegmentation of proximal phalanx of third finger

description: Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.


Burning mouth

description: An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.


Reduced frequency of facial expressions

description: The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.


Linear nevus sebaceous

description: A type of nevus sebaceous with a linear form, raised borders and yellowish color.


ossifying fibroma

description: A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated.


Abnormal large intestine physiology

description: A functional anomaly of the large intestine.


name: Decreased glucose-6-phosphate dehydrogenase level in tissue

description: A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Aplasia involving bones of the extremities


description: A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.


Hypocalcification of dental enamel

description: A form of hypomineralization of enamel characterized by reduced calcification.


name: Anti-carbonic anhydrase II antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.


Sleep terror

description: Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.


Pectoralis amyotrophy

description: Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor.


alexia

description: A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases.


name: Elevated circulating acylcarnitine concentration

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


Stratum basale cleavage

description: Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


Thoracic platyspondyly

description: A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine.


Dark urine

description: An abnormal dark color of the urine.


name: Small intestinal intraepithelial lymphocytosis

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


Primary obstructive megaureter

description: Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.


Small epiphyses of the metacarpals

description: Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.


Focal cortical dysplasia type IIIb

description: A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.


Encephalocele

description: A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.


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

description: Epiphysis of the distal phalanx of the thumb having multiple bony fragments.


Prominent crus of helix

description: The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.


Oligodontia of primary teeth

description: Reduced number of primary teeth.


trigger thumb

description: A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).


name: Bracket epiphyses of the middle phalanges of the hand

description: An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


Absent aortic valve cusps

description: A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.


name: Abnormal small intestinal villus morphology


Anti-rubella antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of rubella virus.


Calcaneonavicular fusion

description: Synostosis of the calcaneus with the navicular bone.


Slender humerus

description: Reduction in diameter of the humerus.


Abnormality of the upper limb

description: An abnormality of the arm.


Abnormal inferior vena cava morphology

description: Any structural anomaly of the principal vein draining blood from the lower portion of the body.


Mucosal telangiectasiae

description: Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.


name: Abnormality of the musculature of the limbs


Reduced CSF asparagine concentration

description: The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Elevated circulating octenoylcarnitine concentration

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


Bilateral vocal cord paresis

description: Decreased strength of the vocal fold on both sides.


Small fetal abdominal circumference

description: The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.


Narrow nasal septum

description: Abnormally narrow nasal septum.


Globus pallidus calcification

description: Pathological deposition of calcium salts in the globus pallidus.


name: Synostosis involving bones of the upper limbs

description: An abnormal union between bones or parts of bones of the upper limbs.


name: Stippled calcification of the humeral epiphyses


Cerebral 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 a cerebral artery.


Calcification of falx cerebri

description: The presence of calcium deposition in the falx cerebri.


Stippled calcification in carpal bones

description: Point-shaped (punctate) calcifications affecting the carpal bones.


name: Triangular epiphysis of the distal phalanx of the 4th finger

description: A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.


Decreased alveolar volume

description: An abnormal reduction in alveolar volume.


name: Fractured distal phalanx of manual digit 2

description: A partial or complete breakage of the distal phalanx of manual digit 2.


Accelerated skeletal maturation

description: An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.


EEG with generalized polyspikes

description: EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.


Increased urinary porphobilinogen

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


Risus sardonicus

description: Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.


name: Elevated urinary 2-methyl-3-hydroxybutyric acid level

description: The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal circulating creatine concentration

description: A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells.


name: Renal arteriole intima/media amyloidosis

description: Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.


Perinephric fluid collection

description: An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.


Aplasia/Hypoplasia of the ear

description: The presence of aplasia or developmental hypoplasia of the ear.


Labiomental fasciculations

description: Fasciculations affecting the tongue muscle and the musculature of the chin.


name: Short chordae tendineae of the tricuspid valve

description: Abnormally short chordae tendineae of the tricuspid valve.


name: Elevated circulating homoarginine concentration

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


name: Anti-citrullinated protein antibody positivity

description: The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.


name: Glomerular endocapillary foam-cell hypercellularity

description: Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.


Toe syndactyly

description: Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".


Spinal dysplasia

description: The presence of developmental dysplasia of the vertebral column.


Abnormality of ophthalmic artery

description: Abnormality of the first branch of the internal carotid artery.


Rectal atresia

description: A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.


name: Short metacarpals with rounded proximal ends


Limited knee extension

description: Reduced ability to extend (straighten) the knee joint.


name: Increased circulating myristoleate level

description: An abnormally high concentration of myristoleate in the blood circulation.


Diastema

description: Increased space between two adjacent teeth in the same dental arch.


hydatidiform mole

description: A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.


name: Segmental glomerulosclerosis away from the vascular and tubular poles

description: Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neirhter the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.


Acute constipation

description: Constipation of sudden onset and lasting for less than three months.


name: Cortical radial artery foam cell hypercellularity

description: A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.


Protruding tongue

description: Tongue extending beyond the alveolar ridges or teeth at rest.


name: Elevated urinary N-carbamoyl-beta-alanine level

description: The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.


Hepatic arteriovenous malformation

description: A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures in the liver.


name: Juvenile type ovarian granulosa cell tumor

description: Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occuring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.


Medially deviated second toe

description: Medial deviation of the second toe.


Sparse facial hair

description: Reduced number or density of facial hair.


multiple epiphyseal dysplasia

description: Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6.


Abnormal urine hormone level

description: An abnormal concentration of a hormone in the urine.


Myelin-like whorls in vacuolated fibers

description: Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.


Pineal cyst

description: A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.


Chronic CSF lymphocytosis

description: Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.


Common carotid artery aneurysm

description: An abnormal widening (dilatation) of the common carotid artery.


Elevated leukocyte alkaline phosphatase

description: Increased alkaline phosphatase measured within leukocytes.


Delusion of persecution

description: False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Pneumobilia

description: Accumulation of gas in the biliary tree.


Fractured ilium

description: A partial or complete breakage of the ilium.


Abnormality of the middle ear ossicles

description: An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).


Abnormal infraorbital artery morphology

description: An abnormality of an infraorbital artery.


Anti-contactin-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.


Tuberous xanthoma

description: A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.


Focal pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Abnormal emotion

description: Abnormalities in the intensity, frequency, or duration of emotional experiences.


name: Elevated circulating tetradecenoylcarnitine concentration

description: The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.


name: Cortical subperiosteal resorption of humeral metaphyses


name: Swollen achromatic neurons in the cerebral cortex

description: The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


Abnormal synovial bursa morphology

description: A structural anomaly of a synovial bursa.


Thick growth plates

description: Increased thickness (dimension along the axis of the bone) of the growth plate.


Chaddock reflex

description: A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.


name: polymicrogyria, bilateral perisylvian, X-linked

description: A type of perisylvian polymicrogyria that affects both sides of the brain.


Cellular urinary casts

description: A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).


Abnormal heart valve physiology

description: Any functional abnormality of a cardiac valve.


description: Abnormality of the twelfth cranial nerve.


name: Decreased serum bicarbonate concentration

description: An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.


name: Abnormality of liposaccharide metabolism

description: An abnormality of liposaccharide metabolism.


name: Vascular granular osmiophilic material deposition

description: Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.


trigonocephaly 1

description: Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene.


name: Decreased circulating apolipoprotein concentration

description: Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).


name: Facial palsy secondary to cranial hyperostosis

description: Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.


name: Abnormality of somatosensory evoked potentials

description: An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.


Abnormal hand bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of hand.


name: Increased hepatitis A virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


Recurrent ear infections

description: Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.


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


Continuous heart murmur

description: A murmur that occurs in both systole and diastole.


Elevated circulating CHI3L1 level

description: Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.


name: Fragmentation of the epiphyses of the proximal phalanges of the hand


renal agenesis, unilateral

description: Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.


Symptomatic seizures

description: A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.


name: Duplication of the middle phalanx of the 4th toe

description: Partial or complete duplication of middle phalanx of fourth toe.


name: Diminishment of interpersonal communication

description: A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.


Pansynostosis

description: Craniosynostosis of all calvarial sutures.


Synkinesis

description: Unintentional movement in one area of the body produced during intentional movement of another area of the body.


name: Aplasia/Hypoplasia of the fifth metatarsal bone


Pulmonary opacity

description: Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.


Abnormal natural killer cell morphology

description: An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.


Tessier number 2 facial cleft

description: As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


name: Patchy sclerosis of the distal phalanx of the 4th finger

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


Hypoplastic pubic bone

description: Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.


Complete cleft of the upper lip

description: Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.


name: Thyrotoxicosis from ectopic thyroid tissue


name: Elevated urine 4-methyl-2-oxopentanoic acid level

description: Increased amount of 4-methyl-2-oxopentanoic acid in the urine.


Perineal hemangioma

description: Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.


Pelvic mass

description: An abnormal enlargement or swelling in the pelvic region.


Abnormal chorion morphology

description: Any structural anomaly of the fetal part of the placenta, which is known as the chorion.


Acute respiratory acidosis

description: Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).


Decreased urinary biopterin level

description: The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Extra-axial cerebrospinal fluid accumulation

description: An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.


name: Fractured middle phalanx of pedal digit 3

description: A partial or complete breakage of the middle phalanx of pedal digit 3.


Villous hypertrophy of choroid plexus

description: Overgrowth of the choroid plexus.


Scaphocephaly

description: Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.


Metaphyseal cupping of metacarpals

description: Metaphyseal cupping affecting the metacarpal bones.


Square pelvis bone

description: An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.


Increased heart rate variability

description: Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.


Juvenile aseptic necrosis

description: Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.


Abdominal aortic dissection

description: A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.


name: Small epiphysis of the distal phalanx of the 4th finger

description: Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


name: Abnormal muscle tissue enzyme activity or level

description: Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.


name: T cell chronic lymphocytic lymphoma/leukemia

description: A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.


Impaired transferring ability

description: Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


name: Elevated serum transaminases during infections

description: Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.


Abnormal oral cavity morphology

description: Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.


Exercise-induced muscle stiffness

description: A type of muscle stiffness that occurs following physical exertion.


Reduced circulating fibronectin level

description: A reduction below the normal concentration of fibronectin the the blood circulation.


Abnormal fecal pH

description: Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.


Abnormality of the spleen

description: An abnormality of the spleen.


Flexion contracture

description: A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.


Short proximal phalanx of the 3rd toe

description: Abnormal reduction in length of proximal phalanx of third toe.


Vulvar abscess

description: A circumscribed area of pus or necrotic debris in the vulvar region.


Hydrocolpos

description: Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.


Hypoplastic carotid canal

description: Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.


Abnormality of the abdominal organs

description: An abnormality of the viscera of the abdomen.


Harlequin phenomenon

description: The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.


Chin with H-shaped crease

description: H-shaped crease in the fat pad of the chin.


name: Bilateral superior vena cava with bridging vein


name: Abnormal morphology of musculature of pharynx

description: An abnormality of any of the muscles of the pharynx.


name: Osseous stenosis of the external auditory canal


Long face

description: Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Cortical radial artery medial hypertrophy

description: Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Semilobar holoprosencephaly

description: A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.


name: Early ossification of capital femoral epiphyses

description: Developmental acceleration of ossification of the proximal epiphysis of the femur.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


blue nevus

description: An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Abnormal skull base morphology

description: An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.


name: Elevated CSF alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Proximal tibial and fibular fusion

description: A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.


Aplasia of the middle ear ossicles

description: Absence of the middle ear ossicles, malleus, incus, and stapes.


Abnormal thymus morphology

description: Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.


name: Symphalangism affecting the proximal phalanx of the 4th toe


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


name: Fragmentation of the epiphysis of the distal phalanx of the 5th toe


name: Complete duplication of the distal phalanges of the hand

description: A complete duplication affecting one or more of the distal phalanges of the hand.


Abnormal bronchus morphology

description: Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.


Lambda Bence Jones proteinuria

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


name: Abnormal CD69 upregulation upon TCR activation

description: Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.


name: Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


name: Increased muscle succinate dehydrogenase staining


Abnormal growth hormone level

description: Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.


Parenchymal consolidation

description: Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).


Abnormal vomer morphology

description: An abnormality of the vomer.


Hypertaurinemia

description: An increased amount of taurine in the blood.


name: Reduced muscle phosphoglycerate kinase activity

description: Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.


Eunuchoid habitus

description: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


name: Fragmentation of the epiphysis of the distal phalanx of the 2nd toe


Polyclonal elevation of circulating IgE

description: A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.


name: Multifocal hypointensity of cerebral white matter on MRI


Abnormal urinary bile acid level

description: The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal.


name: Complete duplication of the proximal phalanges of the hand

description: A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Abnormal social behavior

description: An abnormality of actions or reactions of a person taking place during interactions with others.


Decreased serum zinc

description: A reduced concentration of zinc in the blood.


Abnormality of the plantar skin of foot

description: An abnormality of the plantar part of foot, that is of the soles of the feet.


name: Contracture of the proximal interphalangeal joint of the 2nd finger

description: Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.


Upper limb metaphyseal widening

description: Increased width (breadth) of metaphyses of the arms.


Poor suck

description: An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.


name: Patchy sclerosis of the distal phalanx of the 5th toe

description: Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


11 thoracic vertebrae

description: The presence of 11 instead of the normal 12 thoracic vertebrae.


name: Incomplete ossification of palatine bone

description: Failure to complete ossification (maturation and calcification) of the palatine bone.


name: Abnormality of the medullary cavity of the long bones

description: An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.


name: Partial duplication of the middle phalanx of the 4th toe

description: Partial duplication of middle phalanx of fourth toe.


name: Delayed self-feeding during toddler years

description: A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).


Increased fetal long bone echogenicity

description: An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.


Arterial rupture

description: Sudden breakage of an artery leading to leakage of blood from the circulation.


name: congenital unilateral hypoplasia of depressor anguli oris

description: Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).


name: Neonatal wrinkled skin of hands and feet


Abdominal aortic calcification

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


name: Pneumocystis cysts in respiratory secretions

description: Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid.


name: Focal impaired awareness non-motor seizure

description: A focal non-motor seizure characterized by impaired awareness at some point during the seizure.


Recurrent viral skin infections

description: Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.


Perisylvian FDG hypermetabolism

description: 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.


Abnormal inner ear morphology

description: A structural anomaly of the internal part of the ear.


name: Enlarged epiphysis of the middle phalanx of the 5th toe


Abnormal U wave

description: An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


name: Abnormal facility in opposing the shoulders

description: Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.


Urate tophus

description: Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.


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


Broad radial epiphyseal plate

description: Abnormal increase in width of the epiphyseal growth plate of the radius.


Long-segment aganglionic megacolon

description: A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.


name: Positive bloodstream antibacterial antibody positivity

description: The presence of antibodies in the blood circulation that react against a bacterium.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Perisylvian polymicrogyria

description: Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.


name: Increased circulating nicotinurate level

description: An increased amount of nicotinurate in the blood.


name: Fatigable weakness of respiratory muscles

description: A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Short phalanx of hallux

description: Underdevelopment (hypoplasia) of a phalanx of big toe.


Pulmonary arteriovenous fistulas

description: A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.


Dysgenesis of the hippocampus

description: Structural abnormality of the hippocampus related to defective development.


name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe


Absent muscle fiber emerin

description: Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.


Abnormal maxilla morphology

description: An abnormality of the Maxilla (upper jaw bone).


Erythrodontia

description: Reddish, brown opalescent discoloration of teeth in normal light.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Dissociated sensory loss

description: A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.


Parietal hypometabolism in FDG PET

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


name: Decreased proportion of naive CD4 T cells

description: An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


Increased muscle glycogen content

description: An increased amount of glycogen in muscle tissue.


partial motor epilepsy

description: A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles.


Cerebral venous angioma

description: A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.


Decreased circulating total IgG

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


name: Positive CSF arbovirus nucleic acid test

description: Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR..


name: Hypoplasia of the abdominal wall musculature

description: Underdevelopment of the abdominal musculature.


Acromelia of the lower limbs

description: Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.


Coarse metaphyseal trabecularization

description: Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.


Anti-GM2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.