Telangiectasia of the oral mucosa

Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.


cleft hard palate

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Hyperpigmented nevi and streak

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Hyperglutaminemia

An increased concentration of glutamine in the blood.


Fragmentation of the epiphysis of the proximal phalanx of the 4th toe


Abnormal biliary tract morphology

A structural abnormality of the biliary tree.


Multilamellation of cortical peritubular capillary basement membranes

Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.


Autoimmune antibody positivity

The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.


Dilatation of Inferior mesenteric artery

Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .


Symphalangism affecting the proximal phalanx of the 5th toe


Decorticate rigidity

A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.


Hemiatrophy of upper limb

Unilateral atrophy (reduction in size) of an arm.


Open neural tube defect

A type of neural tube defect that is not covered by skin.


Abnormal T-wave

An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.


Atrial situs inversus

Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.


Focal aware orofacial automatism seizure

A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.


Elevated circulating C18 acylcarnitine concentration

Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.


Typical absence status epilepticus

Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.


Elevated residual volume

Increase in the amount of air remaining in a person's lungs after full exhalation.


Type IV truncus arteriosus

Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.


Abnormal circulating valine concentration

Any deviation from the normal circulation of valine in the blood circulation.


Enlarged epiphysis of the 1st metatarsal


Dependency on parenteral nutrition

Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.


Arcuate vein intimal mucoid edema

Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.


Pulmonary vasculitis

Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity


Abnormal tarsal bone mineral density

This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.


congenital laryngeal cyst

Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia.


Increased Burr cell count

Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.


Nut food product allergy

Hypersensitivity in form of an adverse immune reaction against nut food products.


Nevus flammeus nuchae

Naevus flammeus localised in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.


Dysplasia of the femoral head

The presence of developmental dysplasia of the femoral head.


Very preterm birth

Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).


Dysfunction of lateral corticospinal tracts


Phenotypic abnormality

A phenotypic abnormality.


Absent axillary hair

Absence of axillary hair.


Abnormal renal pelvis morphology

An abnormality of the renal pelvis.


Aplasia/Hypoplasia of fingers

Small/hypoplastic or absent/aplastic fingers.


Dislocated radial head

A dislocation of the head of the radius from its socket in the elbow joint.


Abnormal odontoid tissue morphology

An abnormality of an odontoid tissue.


Feeding difficulties

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.


Absent malleus

Aplasia of the malleus.


Patchy sclerosis of the middle phalanx of the 3rd finger

Uneven (irregular) increase in bone density of the middle phalanx of the third finger.


Duplication of the distal phalanx of the 5th toe

Partial or complete duplication of the distal phalanx of little toe.


Anomalous pulmonary venous return

A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.


Abnormal CSF branched chain amino acid concentration

Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


Anti-transcription intermediary factor-1gamma antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.


Abnormality of circulating beta-2-microglobulin level

A deviation from the normal concentration of beta-2-microglobulin in the blood.


Abnormal atrioventricular connection

An abnormality of the circulatory connection between atria and ventricles.


Lactescent serum

Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.


Partial duplication of the distal phalanx of the 4th finger

Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.


Triceps aplasia

Absence of the triceps muscle.


Absence of large von Willebrand factor multimers

Absence of large von Willebrand Factor multimers on gel electrophoresis.


Pruritus vulvae

A sensation of itching in the vulvar region.


Cupped ear

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).


Salt craving

Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.


Proximal fibular overgrowth

Overgrowth of the proximal part of the fibula.


Light-chain paraproteinemia

An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.


Airway casts

A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.


Expanded metacarpals with widened medullary cavities


Generalized convulsive status epilepticus

A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe


Aplasia/Hypoplasia involving the musculature of the upper arm

Absence or underdevelopment of the muscles of the upper arm.


AV nodal tachycardia

A type of supraventricular tachycardia that originates in the atrioventricular node.


Impaired clot retraction

Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.


Irregular epiphysis of the proximal phalanx of the thumb

Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Anti-CV2/CRMP5 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


Absent pigmentation of the ventral chest

Lack of skin pigmentation (coloring) of the anterior chest.


Abnormal circulating amylase concentration

A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.


Pulmonary necrosis

Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.


Duplication of the distal phalanx of the 2nd toe

Partial or complete duplication of the distal phalanx of second toe.


Elevated terminal:vellus ratio

An increased proportion of terminal hairs compared to vellus hairs.


Retrocollis

A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.


Abnormality of reproductive system physiology

An abnormal functionality of the genital system.


Low-grade fever

Mild fever that does not exceed 38.5 degrees centigrade.


Anti-GFAP antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-Ro52/TRIM21 antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.


Shortening of all middle phalanges of the fingers

Short, hypoplastic middle phalanx of finger, affecting all fingers.


Abnormal peripheral nervous system ganglion morphology

An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.


Nodular pattern on pulmonary HRCT

A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.


Decreased level of tissue plasminogen activator

The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis


Hypoplasia of the small intestine

Underdevelopment of the small intestine.


Delusion of control

A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


cutaneous leiomyosarcoma

An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells.


Exencephaly

A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.


Impaired distal vibration sensation

A decrease in the ability to perceive vibration in the distal portions of the limbs.


Aortic elastic fiber thinning

A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.


Cone-shaped metacarpal epiphyses

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.


Aplasia/Hypoplasia of the clavicles

Absence or underdevelopment of the clavicles (collar bones).


EEG with spike-wave complexes (<2.5 Hz)

The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).


fetal and neonatal alloimmune thrombocytopenia

Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids.


rosette-forming glioneuronal tumor of fourth ventricule

A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal.


Wide cavum septum pellucidum

Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.


Tongue fasciculations

Fasciculations or fibrillation affecting the tongue muscle.


Posterolateral diaphragmatic hernia

A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.


Motor deterioration

Loss of previously present motor (i.e., movement) abilities.


Aplasia/Hypoplasia of the middle phalanges of the toes


Abnormal circulating arginine concentration

Any deviation from the normal concentration of arginine in the blood circulation.


Decreased serum estradiol

A reduction below normal concentration of estradiol in the circulation.


Duplication of the proximal phalanx of the 4th toe

Partial or complete duplication of the proximal phalanx of fourth toe.


Focal emotional seizure

Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.


Disseminated infection with live vaccine virus

A dissemination viral infection caused by a live attenuated vaccine virus.


Broad 4th toe

A broad appearance of the fourth toe.


Low-frequency sensorineural hearing impairment

A form of sensorineural hearing impairment that affects primarily the lower frequencies.


Decreased immunoglobulin level in body fluid

An reduction from normal levels of immunoglobulins in body fluids, such as mucous.


Craniofacial osteosclerosis

Abnormally increased density of craniofacial bone tissue.


Abnormality of mesenteric lymph nodes

A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.


Status epilepticus without prominent motor symptoms

There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.


Shoulder external rotation contracture

A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).


Lhermitte's sign

An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.


Inferior pubic ramus hypoplasia

Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).


Broad humeral epiphyseal plate

Increased width of the humeral epiphyseal growth plate.


Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis

A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


Abnormal morphology of right ventricular trabeculae

Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).


Impairment of the reflex of the tensor tympani muscle


Bile duct polyp

An elevated growth from the the mucosa of the bile duct.


Focal T2 hypointense thalamic lesion

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.


Increased female libido

Elevated sexual desire in female


Prominent subcalcaneal fat pad

Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.


Elevated circulating parathyroid hormone level

An abnormal increased concentration of parathyroid hormone.


Decreased specific pneumococcal antibody level

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.


Chondritis of pinna

Inflammation of the cartilage of the external ear.


Iliac crest serration

Irregularities of the iliac crest that produce the appearance of a lace border around it.


Abnormal renal corpuscle morphology

Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.


Anti-GQ1b IgM antibody positivity

The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.


Anti-acetylcholine receptor antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ganglioside-monosialic acid (GM1), which is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury.


Discrete 2 to 5-mm hyper- and hypopigmented macules


Polymorphic vesicular eruption

A type of vesicular eruption in which the vesicles are at different stages.


Short uvula

Decreased length of the uvula.


Episodic flaccid weakness

Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.


Hippocampal atrophy

Partial or complete wasting (loss) of hippocampus tissue that was once present.


Enlarged sagittal diameter of the cervical canal


Abnormal circulating T4 concentration

A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Schistocytosis

The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.


Triangular epiphysis of the 1st metatarsal


EEG with changes in voltage

EEG with abnormal amplitude.


Deja vu aura

A subjective feeling that an experience which is occurring for the first time has been experienced before.


Abnormal hand morphology

Any structural anomaly of the hand.


Short forearm

Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.


Decreased proportion of memory T cells

An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.


Hyperactive bowel sounds

Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.


Impairment in personality functioning

A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.


Triangular mouth

The presence of a triangular form of the mouth.


cor triatriatum dexter

A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.


Severe generalized osteoporosis

Severe degree of osteoporosis.


Aplasia of the olfactory bulb

Lack of formation (congenital absence) of the olfactory bulb.


Cardiac neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart.


Abnormal pyramidal sign

Functional neurological abnormalities related to dysfunction of the pyramidal tract.


Arcuate vein intima/media crystal accumulation

Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.


High pulse pressure

Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).


Increased neutrophil mitochondria

An increased number of mitochondria detected in neutrophils.


Aplasia/Hypoplasia of the tongue

Absence or underdevelopment of the tongue.


Premature epimetaphyseal fusion in foot

Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.


Abnormal pulmonary artery physiology

An abnormality of the function of the pulmonary artery.


Bracket epiphysis of the distal phalanx of the 3rd toe


Moderate conductive hearing impairment

The presence of a moderate form of conductive hearing impairment.


Decreased CSF arginine concentration

Abnormally decreased levels of arginine in cerebrospinal fluid.


Focal impaired awareness emotional seizure with anger

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


Increased circulating farnesol concentration

An elevated level of farnesol in the blood circulation.


Greater auricular nerve thickening

Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Coronary cameral fistula

An abnormal communication between coronary artery and a cardiac chamber.


Abnormal cardiac index

Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.


Agyria

A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.


Myofiber disarray

A nonparallel arrangement of cardiac myocytes.


Aplasia/Hypoplasia of the tibia

Absence or underdevelopment of the tibia.


Gallbladder enlargement

Abnormal increased in the thickness of the size of the gallbladder.


Long neck

Increased inferior-superior length of the neck.


facial cleft

A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences.


Abnormal proportion of immature B cells

A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).


Abnormal intervertebral disk morphology

Any structural abnormality of the intervertebral disk.


Neonatal seizure with unilateral automatism

Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awarness, occurring at one side of the body.


Ovarian mass

A swelling or enlargment localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Elevated circulating short-chain acylcarnitine concentration

Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),


Fusion of the left and right thalami

A developmental defect characterized by fusion of the left and right halves of the thalamus.


Abnormality of the somatic nervous system

Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.


Abnormal ear morphology

Any structural anomaly of the ear.


Increased HDL3a concentration

An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Hand muscle weakness

Reduced strength of the musculature of the hand.


Abnormal dura mater morphology

An abnormality of the Dura mater.


Periapical tooth abscess

A tooth abscess that occurs at the tip of the root (apex) of a tooth.


Superficial thrombophlebitis

Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).


Gerbode ventricular septal defect

A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.


Hypoplastic helices

Underdevelopment of the helix, i.e., of the outer rim of the pinna.


Stippling of the epiphyses of the 3rd finger

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.


Abnormal circulating free fatty acid concentration

Any deviation from the normal concentration of a free fatty acid in the blood circulation.


Usual-type tubular atrophy

A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.


Agenesis of the small intestine

Failure to develop of the small intestine.


Progressive spasticity

Spasticity that increases in degree with time.


Increased circulating free T3

An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.


Bilateral cryptorchidism

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


Hand clenching

An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.


Urinary bladder granulomatosis

The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.


Decreased CSF glycine concentration

Abnormally decreased levels of glycine in cerebrospinal fluid.


Glomerular synechial adhesion

An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.


Abnormal CSF serine family amino acid concentration

Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.


Abnormal circulating methionine concentration

Any deviation from the normal concentration of methionine in the blood circulation.


Aplasia/hypoplasia of the uterus

Absence or developmental hypoplasia of the uterus.


Focal aware cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.


Abnormality of lingual tonsil

An abnormality of a lingual tonsil.


Focal impaired awareness atonic seizure

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


Grade III preterm intraventricular hemorrhage

Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.


Enteric intraneuronal nuclear inclusion bodies

Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.


Fused nails

A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.


46,XY sex reversal 11

Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene.


Depressed nasal bridge

Posterior positioning of the nasal root in relation to the overall facial profile for age.


Abnormal periodontium morphology

Any abnormality of the periodontium.


Elevated circulating creatinine concentration

An increased amount of creatinine in the blood.


Dermal immune complex deposition

Accumulation of antigen-bound antibody in the skin.


Microspherocytosis

The presence of erythrocytes that are sphere-shaped and reduced in size.


myxoid liposarcoma

A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.


syringomyelia

Syringomyelia is characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS).


Decreased plasma free carnitine

A decreased concentration of free (unbound) carnitine in the blood.


Visceral epithelial hyaline droplets

Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.


Decreased hepatic echogenicity

Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.


Addictive methylphenidate use

Addiction to methylphenidate.


Cerebellar gliosis

Focal proliferation of glial cells in the cerebellum.


Aplasia of lymphatic vessels

Aplasia (absence) of the lymphatic vessels.


Abnormal CSF biopterin concentration

Abnormal concentration of biopterin in the cerebrospinal fluid (CSF).


Unifocal splenic abscess

Single (solitary) abscess in the spleen.


Elevated circulating creatine concentration

An elevation above the normal range of creatine in the blood circulation.


Fragmentation of the epiphyses of the 4th toe


Abnormal putamen morphology

Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.


Mottled pigmentation

Patchy and irregular skin pigmentation.


Asynergia

A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.


Osteopathia striata

A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.


Paramedian lip pit

Depression located paramedially on the vermilion of a lip.


Elevated amniotic fluid alpha-fetoprotein

An elevation of alpha-feto protein measured in the amniotic fluid.


Abnormal pubic bone morphology

An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.


Infantile muscular hypotonia

Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.


Central apnea

Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.


Stippling of the epiphysis of the distal phalanx of the 5th toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.


Triangular shaped distal phalanx of the 3rd finger

Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Focal impaired awareness sensory seizure

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


Abdominal wall muscle weakness

Decreased strength of the abdominal musculature.


Abnormal pulmonary alveolar system morphology

A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.


congenital multicore myopathy with external ophthalmoplegia

An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.


Abnormality of urine calcium concentration

An abnormality of calcium concentration in the urine.


Impaired renal concentrating ability

A defect in the ability to concentrate the urine.


Unilateral cleft lip

A non-midline cleft of the upper lip on one side only.


Skin-colored papule

A papule with the same color as the surrounding skin.


Echogenic fetal bowel

Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.


Erratic myoclonus

A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.


Increased aspartate family amino acid level in urine

An elevated level of an aspartate family amino acid in the urine.


Abnormal myelination

Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


Paramesangial deposits

Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.


Abnormal CSF glutamine concentration

Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.


Coronary sinus atrial septal defect

An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.


Aplasia of posterior communicating artery

A developmental anomnaly characterized by the lack of development of the posterior communicating artery.


Single ventricle

The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.


Small epiphysis of the 1st metacarpal

Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.


Mild neurosensory hearing impairment

The presence of a mild form of sensorineural hearing impairment.


Bicarbonate-wasting renal tubular acidosis


P pulmonale

The presence of tall, peaked P waves in EKG lead II.


Short fourth metatarsal

Short fourth metatarsal bone.


Recurrent intrapulmonary hemorrhage

A recurrent hemorrhage occurring within the lung.


Solid pulmonary nodule

A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a "solid" appearance.


Sleep abnormality

An abnormal pattern in the quality, quantity, or characteristics of sleep.


Reduced circulating transferrin concentration

An abnormally decreased concentration of transferrin in the blood circulation.


Renal tubular herpes simplex virus inclusions

Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.


Risky behavior

Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, is a sign of recklessness. It involves a disregard for one's limitations and a denial of personal danger.


Elevated circulating very long-chain acylcarnitine concentration

Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),


Short distal phalanx of the 2nd finger

Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.


Aplasia/Hypoplasia of the premaxilla

Absence or underdevelopment of the premaxilla.


Focal impaired awareness seizure with dissociation at onset

A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.


Abnormal T cell subset distribution

Any abnormality in the proportion T cells subsets relative to the total number of T cells.


Irregular menstruation

Abnormally high variation in the amount of time between periods.


EEG with occipital focal spikes

EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.


Decreased proportion of CD4-positive, alpha-beta memory T cells

Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Femoral bowing present at birth, straightening with time

Congenital onset bending or abnormal curvature of the femur that normalizes with age.


Mulberry molar

Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.


Irregular epiphyses of the 4th finger

Irregular radiographic opacity of the epiphyses of the 4th finger.


Abnormal CSF glycine concentration

Any deviation from the normal concentration of glycine in the cerebrospinal fluid.


Increased arm span

Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).


Abnormal circulating aspartate family amino acid concentration

Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


Fractured distal phalanx

A partial or complete breakage of the distal phalanx.


Self-mutilation

Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.


otitis media with effusion

Otitis media associated with accumulation of fluid in the middle ear.


Bullet-shaped proximal phalanx of the 5th toe

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


Abnormal lip morphology

An abnormality of the lip.


Unilateral absence of pectoralis major muscle

Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.


Aplasia/Hypoplasia of the corpus callosum

Absence or underdevelopment of the corpus callosum.


Anti-Ma antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.


Neutral hyperaminoaciduria

The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


2-4 toe cutaneous syndactyly

A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.


Hemiballismus

Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.


Anti-U1 ribonucleoprotein antibody positivity

The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


Ignores peers

Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.


Left atrial isomerism

In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.


Increased neutrophil nuclear projections

Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.


Aplasia/Hypoplasia of metatarsal bones

Absence or underdevelopment of the metatarsal bones.


Conical maxillary incisor

An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


Abnormal labia minora morphology

An anomaly of the labia minora, the folds of skin between the outer labia.


Rhomboid or triangular shaped 5th finger distal phalanx

Rhomboid or triangular shaped 5th (little) finger distal phalanx.


Impaired renal tubular reabsorption of glucose

Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Dural tail sign

This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


Pseudoepiphysis of the proximal phalanx of the 2nd finger

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


factor X deficiency

A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood.


Hyperextensible skin

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Upper extremity joint dislocation

Displacement or malalignment of one or more joints in the upper extremity (arm).


Eosinophilic infiltration of the esophagus

Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.


Large keratohyaline granules

Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Radiculomegaly

Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.


Vasculitis by histology

Vasculitis categorized according to type of histological abnormality.


Leung cusp

An additional cusp located in the middle of the occlusal surface.


Narrow philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


spinal meningioma

Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent.


Decreased adenosylcobalamin

Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12.


Small epiphysis of the middle phalanx of the 3rd toe


EEG with temporal epileptiform discharges

Focal epileptiform EEG discharges recorded in the temporal region.


Absent epiphysis of the middle phalanx of the 4th toe


Abnormality of the proximal phalanx of the 3rd finger


Atypical perifissural nodule

A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).


Abnormal long bone morphology

An abnormality of size or shape of the long bones.


Irregular epiphysis of the distal phalanx of the 4th toe


Praxis-induced seizure

A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


Increased cardiac index

An elevated cardiac index, defined as cardiac output divided by body surface area.


Narrow foramen obturatorium

Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.


postaxial polydactyly of fingers

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).


Fusion of gums

A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


Abnormality of inferior crus of antihelix

An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.


Impaired ability to plan

Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


Impaired sensitivity to thyroid stimulating hormone

Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


Ventricular couplet

Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


keratosis pilaris atrophicans

An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.


Reduced attempt to get or direct another's attention

An abnormality in one's tendency to initiate social interactions.


Abnormality of the proximal fibular epiphysis

Any abnormality of the proximal epiphysis of the fibula.


nonsyndromic congenital nail disorder 2

The natural longitudinal (posterodistal) convex arch is not present or is inverted.


Aplasia/Hypoplasia of the middle phalanx of the 2nd finger


Abnormality of the middle ear

An abnormality of the middle ear.


Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Nasal regurgitation

Regurgitation of milk through the nose.


Elevated urinary aminoisobutyric acid

An increased amount of 3-aminoisobutyric acid in the urine.


Gonadal tissue inappropriate for external genitalia or chromosomal sex


Abnormal peritubular capillary morphology

Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


Large basal ganglia

Increased size of the basal ganglia.


Focal aware cognitive seizure with dyslexia/alexia

A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


Abnormal circulating carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the blood circulation.


Abnormality of skin pigmentation

An abnormality of the pigmentation of the skin.


nominal aphasia

Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


Abnormal circulating IgG level

An abnormal deviation from normal levels of IgG immunoglobulin in blood.


Reduced platelet alpha granules

A reduced number of platelet alpha granules.


Elevated circulating N,N-dimethylglycine concentration

An increased concentration of N,N-dimethylglycine in the circulation.


B lymphocytopenia

An abnormal decrease from the normal count of B cells.


Stippling of the epiphysis of the middle phalanx of the 2nd toe

The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.


Increased CSF citrulline concentration

Abnormally increased levels of citrulline in cerebrospinal fluid.


Abnormality of cartilage of external ear

An abnormality of a cartilage of external ear.


Ectopic ovary

Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


isolated anterior cervical hypertrichosis

Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.


Increased amyloid beta 42 peptide CSF concentration

An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Absent fifth fingernail

Absence of nail of little finger.


Coronary cameral fistula to right ventricle

An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

Atrophy of the cortex of the kidney.


Aplasia of the semicircular canal

Absence of the semicircular canal.


oligospermia

Decreased number of spermatozoa in the semen.


Short 2nd metacarpal

Short second metacarpal bone because of developmental hypoplasia.


Premature anterior fontanel closure

Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


Abnormality of the fourth metatarsal bone


Prominent calcaneus

Protruding heel bone, or calcaneus.


Cleft lower lip

A gap in the lower lip.


Abnormality of temperature regulation

An abnormality of temperature homeostasis.


Abnormal homeostasis

An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormal olfactory lobe morphology

A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

A partial or complete breakage of the manual digit 1 phalanx.


Supernumerary metacarpal bones

The presence of more than the normal number of metacarpal bones.


Hypoplasia of the vestibule of the inner ear

Underdevelopment of the vestibule of the inner ear.


Fetal scalp mass

An abnormal growth (lump) of tissue that projects from the fetal scalp.


Irregularly shaped keratohyaline granules

Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

Bleeding that persists longer than the normal time following a surgical procedure.


Anti-mGluR5 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).


Tibial pseudarthrosis

Pseudarthrosis, or "false joint" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.


Keratocystic odontogenic tumor

An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


Interlobular vein medial hypertrophy

Increased thickness of middle layer of the interlobular veins of the kidney.


Partial agenesis of the corpus callosum

A partial failure of the development of the corpus callosum.


Oral erythroplakia

A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


Widened cerebellar subarachnoid space

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.


Increased circulating IgG3 level

An abnormally increased concentration of the IgG3 subtype in the blood circulation.


Moderately reduced left ventricular ejection fraction

A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


Decreased proportion of CD3-positive T cells

Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.


Calcified amorphous tumor of the heart

A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Aplasia/Hypoplasia of the fibula

Absence or underdevelopment of the fibula.


Focal sensory seizure with olfactory features

Seizures characterized by olfactory phenomena as its first clinical manifestation.


Aplasia of the premaxilla

Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.


Abnormal glomerular mesangium morphology

An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.


Skin fragility with non-scarring blistering


Mesangial immunotactoid deposits

Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Hypoammonemia

A decreased concentration of ammonia in the blood.


Abnormal urine protein level

Any deviation of the concentration of one or more proteins in the urine.


primary tethered cord syndrome

Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated.


Antiphospholipid antibody positivity

The presence of circulating autoantibodies to phospholipids.


Congenital malformation of the left heart

Defect or defects of the morphogenesis of the left heart identifiable at birth.


Elevated circulating alpha-aminoadipic semialdehyde concentration

Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.


Aplasia of the proximal phalanges of the toes


Decreased CD25 upregulation upon TCR activation

Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


renal artery atheroma

A atherosclerosis that involves the renal artery.


Abnormality of the epiphysis of the proximal phalanx of the 4th toe


Microdontia

Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

Underdevelopment of the spleen.


Bullet-shaped distal phalanx of the 2nd toe

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


Finger flexor weakness

Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.


Focal cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


Diffuse pancreatic islet hyperplasia

Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

Muscular atrophy of distal leg muscles.


Rectal arteriovenous malformation

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.


Cardiac lipoma

A lipoma that is located within a the heart.


Sclerosis of foot bone

An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Metaphyseal striations

Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).


Hypoplasia of the vestibular nerve

Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

Decreased concentration of neopterin in the cerebrospinal fluid (CSF).


Abnormal circulating beta-C-terminal telopeptide concentration

A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


Focal impaired awareness motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.


Hip contracture

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.


Posterior helix pit

Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.


Anterior predominant subcortical band heterotopia

Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.


pituitary stalk interruption syndrome

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.


Decreased circulating GABA concentration

A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Increased CSF uracil concentration

An increased level of uracil in the cerebrospinal fluid.


Impaired thromboxane A2 agonist-induced platelet aggregation

Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


Intimal thickening in the coronary arteries


Curved distal phalanx of the 4th finger

Curved appearance of the distal phalanx of the 4th (ring) finger.


Decreased facial expression reciprocity

Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.


Abnormality of the urinary system physiology


Unilateral renal atrophy

A unilateral form of atrophy of the kidney.


Fibular metaphyseal irregularity

Irregularity of the normally smooth surface of a metaphysis of a fibula.


Elevated circulating long-chain acylcarnitine concentration

Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


Air crescent

An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.


Reduced number of intrahepatic bile ducts

The presence of reduced numbers of intrahepatic bile duct than normal.


prune belly syndrome

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.


Reduced imaginative play skills

Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


Abnormal circulating histidine concentration

An abnormality of a histidine metabolic process.


Narrow uvula

Decreased width of the uvula.


Cigarette-paper scars

Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


Short palm

Short palm.


Abnormal mandible morphology

Any abnormality of the mandible, the bone of the lower jaw.


Nodular subcortical heterotopia in peritrigonal regions

Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


Absent pigmentation of the abdomen

Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.


Focal sensory seizure with auditory features

A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.


cerebral degeneration

A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

An abnormality of the dental root.


Abnormal blood oxygen level

An abnormality of the partial pressure of oxygen in the arterial blood.


Laryngospasm

A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.


Abnormal fetal physiology

Any functional anomaly of the fetus.


Disproportionate prominence of the femoral medial condyle


Impaired neck-righting reflex

Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


Decreased cervical spine flexion due to contractures of posterior cervical muscles


Aplasia/Hypoplasia involving the nose

Underdevelopment or absence of the nose or parts thereof.


A granuloma located in the lung that is not associated with necrotic changes.


Advanced eruption of teeth

Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.


brachial plexus neuropathy

A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand.


Disorganization of the anterior cerebellar vermis


Abnormal T cell count

A deviation from the normal count of T cells.


Benign genitourinary tract neoplasm

A non-malignant neoplasm of the genitourinary system.


Thistle tube shaped pulp

A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


cystic disease of lung

The presence of multiple lung cysts.


Increased level of ribitol in CSF

An increase in the level of ribitol in the cerebral spinal fluid.


External carotid artery calcification

An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.


urocanic aciduria

Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date.


Abnormal keratinocyte morphology

Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Purulent rhinitis

Chronic rhinitis accompanied by pus formation.


Anti-ryanodine receptor antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.


Abnormal sexual behavior

An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


Focal orofacial automatism seizure

A type of focal automatism seizure characterized by orofacial automatisms at onset.


Frontal hirsutism

Excessive amount of hair growth on forehead.


Duodenal atrophy

Wasting or decrease in size of all or part of the duodenum.


Perimembranous ventricular septal defect

A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Hypoplasia of fetal nasal bone

On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.


Ankle weakness

Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


Elevated circulating histamine concentration

Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


Abnormal epiphysis morphology

An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.


Atrichia

The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


Bleeding with minor or no trauma

Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.


Cone-shaped epiphysis of the middle phalanx of the 2nd finger


Cervical vertebral bodies with decreased anteroposterior diameter


Elevated circulating dihydrothymine concentration

An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.


Hemiplegia/hemiparesis

Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


Focal cognitive seizure with hallucination

A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.


Abnormal spleen morphology

Any anomaly of the structure of the spleen.


Cafe-au-lait spot

Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.


EEG with 4-5/second background activity

EEG background activity at 4-5/second.


Abnormal mediastinum morphology

Any structural anomaly of the central compartment of the thoracic cavity.


Fatigable weakness of neck muscles

A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


Focal aware cognitive seizure with neglect

A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.


Enamel hypomineralization

A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.


Irregular epiphyses of the 5th finger

Irregular radiographic opacity of the epiphyses of the 5th finger.


Hypoalaninemia

A decreased amount of alanine in the blood.


Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.


CNS hypermyelination

Increased amount of myelin in the central nervous system.


Macrotia

Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).


Abnormal circulating calcitonin concentration

Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.


Increased circulating palmitate level

An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Asherman syndrome

Adhesions or scar tissue that form inside the cavity of the uterus.


Chronic tubulointerstitial nephritis

Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


Abnormality of tensor veli palatini muscle

An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Acute encephalopathy

A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Aortic annulus calcification

Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


ganglioneuroma

A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.


Fractured hindlimb bone

A partial or complete breakage of the hindlimb bone.


Abnormal medulla oblongata morphology

An abnormality of the medulla oblongata, the lower half of the brainstem.


Abnormality of cytokine secretion

An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).


Hypoplastic trochlear nerve

Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.


Fusiform descending thoracic aortic aneurysm

A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall


Dermal translucency

An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


Centrilobular ground-glass opacification on pulmonary HRCT

A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.


Epigastric pain

Pain that is localized to the region of the upper abdomen immediately below the ribs.


Decreased glucose-6-phosphate dehydrogenase level in leukocytes

A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.


Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Persistent viremia

Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host.


Focal aware sensory seizure with gustatory features

A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


Multicentric ossification of proximal humeral epiphyses


Epidermal necrosis

Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).


Cardiomyocyte inclusion bodies

Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


Aplasia of the middle phalanx of the 2nd toe


Abnormal magnesium concentration

An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

A deviation from the normal concentration of properdin in the blood.


Esophageal stricture

A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal cardiac ventricular function

An abnormality of the cardiac ventricular function.


Spinal myoclonus

Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


Complete duplication of hallux phalanx

Complete duplication of one or more phalanx of big toe.


Abnormality of the epiphysis of the proximal phalanx of the 3rd toe


Postnatal growth retardation

Slow or limited growth after birth.


Congenital symmetrical palmoplantar keratosis


dentinogenesis imperfecta

Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.


complement deficiency

A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


Abnormal larynx physiology

Any anomaly of the function of the larynx.


Abnormality of the epiphysis of the 1st metacarpal

In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.


familial multiple nevi flammei

A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color.


Increased circulating argininosuccinic acid

An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.


Irregular proximal tibial epiphyses

Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.


Subendothelial glomerular basement membrane electron dense deposits

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


Left superior vena cava draining directly to the left atrium

A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


Abnormal anterior semicircular canal morphology


Focal sexual automatism seizure

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


Mild receptive language delay

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


Abnormal proportion of naive B cells

A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


PR segment depression

A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

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


Abnormality of the distal radial epiphysis

Any abnormality of the distal epiphysis of the radius.


Displaced tracheal bronchus

Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.


Abnormality of the joint spaces of the elbow


Abnormality of the subungual region

A lesion located beneath a fingernail or toenail.


Proximal/middle symphalangism of 5th toe

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


Temporomandibular joint adhesion

Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


Increased total iron binding capacity

An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


Focal impaired awareness sensory seizure with visual features

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


Microcephaly

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


Episodic pain

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


Aortic medial fibrosis

An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal

Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.


Abnormal renal arteriole morphology

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


Long distal phalanx of finger

Increased length of the distal phalanx of finger.


Decreased circulating IgG4 level

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


Symphalangism affecting the proximal phalanx of the 4th finger

Fusion of the proximal phalanx of the 4th finger with another bone.


Presacral teratoma

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


Fragmentation of the epiphysis of the distal phalanx of the hallux


Senile plaques

Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.


Hand tremor

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


Erythematous macule

A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Focal aware automatism seizure

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


Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

Abnormally increased level of L-alloisoleucine in the urine.


Abnormal distal ulnar epiphysis morphology

Any abnormality of the distal epiphysis of the ulna.


Irregular epiphysis of the distal phalanx of the hallux


Abnormality of the distal phalanx of the hallux


Hip adductor weakness

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


spastic hemiplegia

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


Sensory hypersensitivity

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


Osteoporotic metatarsal

Decrease in mass and density of the metatarsal bones.


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

An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Thumb extension contracture

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


Postprandial hyperlactemia

Abnormally increased level of blood lactate following a meal.


Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


Renal interstitial immunoglobulin deposits

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


Wrist pain

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


Prolonged QTc interval

A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Type IV atherosclerotic lesion

In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Thyroid lymphangiectasia

The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

Underdevelopment of the nasopharyngeal adenoids.


Partial duplication of the phalanx of hand

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


Elevated circulating porphyrin concentration

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


Symphalangism affecting the proximal phalanx of the 3rd toe


Peripheral primitive neuroectodermal neoplasm

A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.


Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

Any structural anomaly of the tongue.


Reduced circulating acylcarnitine concentration

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


Patchy sclerosis of the distal phalanx of the 2nd finger

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


Preauricular hair displacement

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


Ecchymosis

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


Anti-platelet derived growth factor receptor

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


juvenile type testicular granulosa cell tumor

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


Carpal bone aplasia

Congenital absence of a carpal bone.


Unilateral vestibular schwannoma

A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.


Reduced sharing of interests

Decreased sharing of interests with others appropriate to culture and developmental level.


Lip pit

A depression located on a lip.


Bracket epiphysis of the proximal phalanx of the 4th finger

An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.


2-3 toe syndactyly

Syndactyly with fusion of toes two and three.