liposarcoma

A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.


Cutaneous anergy

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Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

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


Impaired cortisol response to insulin stimulation test

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


Uterine prolapse

The presence of prolapse of the uterus.


Onychogryposis

Nail that appears thick when viewed on end.


Hyperdynamic left ventricular ejection fraction

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


Fractured metacarpus skeleton

A partial or complete breakage of the metacarpus skeleton.


Widow's peak

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


Bilateral coxa valga

The presence of bilateral coxa valga.


Abnormal HDL2a concentration

Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


Dust particle inclusion in alveolar macrophages

Accumulation of inhaled, nondigestable particles in macrophages.


Bilateral radial aplasia

Missing radius bone on both sides associated with congenital failure of development.


Abnormal blood potassium concentration

An abnormal concentration of potassium.


Triangular shaped distal phalanx of the 2nd toe


Triangular shaped distal phalanges of the hand


Neutrophilic infiltration of the skin

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


telangiectasia macularis eruptiva perstans

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Foot osteomyelitis

An infection of bone of the foot.


Calcification of the small brain vessels

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


Enamel pearls

Small nodules of enamel on the root of a tooth.


Aplasia/Hypoplasia of the mandible

Absence or underdevelopment of the mandible.


Curved proximal phalanx of the 4th finger


Stroke-like episode

No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Left ventricular thrombus

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


Abnormal glomerular filtration rate

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


Abnormal ischium morphology

An anomaly of the ischium, which forms the lower and back part of the hip bone.


inner ear neoplasm

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


Increased inflammatory response

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


Abnormal consumption behavior

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


Absent sternal ossification

Lack of formation of mineralized bony tissue of the sternum.


Coronary ostial atresia

Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

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


Weakness of muscles of respiration

Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


Paresis of extensor muscles of the big toe


Decreased urinary 3-methylhistidine

Decreased concentration of 3-methylhistidine in the urine.


Splayed toes

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


isolated congenital adermatoglyphia

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


Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

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


Complete right sided absence of pericardium

No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


Abnormal circulating protein concentration

An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

Lack of formation of the palatine bone.


Arteria lusoria

Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


Abnormality of central somatosensory evoked potentials


Olivopontocerebellar hypoplasia

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


Abnormal cricoid cartilage morphology

Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Cone-shaped epiphyses of the 2nd finger

A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Galactosuria

Elevated concentration of galactose in the urine.


Advanced pneumatization of cranial sinuses

A degree of pneumatization that is increased compared to age-related norms.


Myoclonic absence seizure

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


Experiential epileptic aura

Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Coronary artery fistula

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


Prenatal double bubble sign

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


Abnormal urinary mineral level

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


Segmental hypoplasia of liver

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


Hepatic focal nodular hyperplasia

Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


Cortical radial artery intima/media arteriosclerosis

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


Dystopic os odontoideum

Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus


Palmar hyperkeratosis

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


Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

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


Ivory epiphysis of the middle phalanx of the 2nd toe


Persistent stapedial artery

Persistence of the stapedial artery, which normally regresses during embryonic life.


Elevated circulating o-phosphoethanolamine concentration

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


Migrating focal seizure

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


Elevated urinary inosine level

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


Anti-contactin-associated protein 1 antibody positivity

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


Short foot

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).


medulloblastoma

A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.


congenital pulmonary airway malformation

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


Milky appearance of bronchoalveolar lavage fluid

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


Abnormal circulating collagen degradation product concentration

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


Translamellar mucoid extracellular matrix accumulation

A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


Left ventricular noncompaction cardiomyopathy

Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.


Increased urinary disaccharide excretion

Increased concentration of disaccharide in the urine.


teratoma

A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


Superior pubic ramus hypoplasia

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


Aplasia/Hypoplasia of the thumb

Hypoplastic/small or absent thumb.


thrombophilia due to activated protein C resistance

A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.


fibrous dysplasia

A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures.


Lack of insight

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


Patchy sclerosis of toe phalanx

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


Bullet-shaped 2nd toe phalanx

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


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

An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Abnormal DLCO

An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.


Curved middle phalanx of the 3rd finger

Curved appearance of the middle phalanx of the 3rd (middle) finger.


Reflex asystolic syncope

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


Abnormality of body mass index

Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.


Hypoamylasemia

Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Tendon xanthomatosis

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


Yellow subcutaneous tissue covered by thin, scaly skin


Spastic gait

Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.


Cerebellar ataxia associated with quadrupedal gait

The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).


Decreased comfort with casual physical contact

An abnormal reduction in the interest or frequency of physical contact with others as compared with the usual behavior of an individual. For instance, an individual may choose to stand farther apart from others in conversations or decline physical contact when offered during social interactions.


Lymphangiosarcoma

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


Pseudoepiphysis of the distal phalanx of the thumb

A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.


Hypermobility of interphalangeal joints

The ability of the interphalangeal joints to move beyond their normal range of motion.


Abnormal midbrain morphology

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


Patellar hypoplasia

Underdevelopment of the patella.


Elevated circulating membrane cofactor protein concentration

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


Abnormal level of platelet-activating factor


Factor X activation deficiency

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


Absent toenail

Congenital absence of the toenail.


Amyelia

Congenital absence of the spinal cord.


Abnormality of premolar

An abnormality of premolar tooth.


Fluctuating hepatomegaly

Intermittently increased size of the liver.


Abnormality of the hypothalamus-pituitary axis

Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


Toenail dysplasia

An abnormality of the development of the toenails.


Absent epiphysis of the distal phalanx of the 4th toe


3-methylglutaconic aciduria

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


Increased proportion of memory T cells

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


Neonatal electro-clinical tonic seizure

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


Cystathioninemia

An increased concentration of cystathionine in the blood.


Short phalanx of the 5th toe

Developmental hypoplasia of one or more phalanx of little toe.


Hypomature dental enamel

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


Inappropriately normal thyroid-stimulating hormone level

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


familial isolated hypoparathyroidism due to agenesis of parathyroid gland

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


Thyrotoxicosis with toxic multinodular goiter


Papillary dermal edema

Swelling due to fluid acculuation of the papillary dermis.


Increased CSF N-acetylaspartic acid concentration

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


Aorto-right ventricular tunnel

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


Abnormal circulating heparan sulfate level

An abnormal level of heparan sulfate in the blood.


Cone-shaped epiphyses of phalanges 2 to 5


Anti-glutamic acid decarboxylase antibody positivity

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


Femoral retroversion

An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).


Abnormal rib cage morphology

A morphological anomaly of the rib cage.


Megaloblastic erythroid hyperplasia

A laboratory test result indicating an abnormally high quantity of abnormal immature red blood cells with megaloblastic features.


Curved 2nd toe phalanx

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


Thyroid hyperplasia

Hyperplasia of the thyroid gland.


neoplasm of testis

A neoplasm (disease) that involves the testis.


Proprioceptive-induced seizure

A seizure precipitated by movement or a change in posture.


Increased skull ossification

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


escherichia coli infection

Infection with the organism Escherichia Coli.


Thickened calvaria

The presence of an abnormally thick calvaria.


Knee flexion contracture

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


Anti-salivary protein antibody positivity

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


Increased KCO

Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).


acute monocytic leukemia

Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11).


Triangular epiphysis of the proximal phalanx of the 5th finger

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


Pineal gland calcification

Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

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


Elevated brain N-acetyl aspartate level by MRS

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


2-5 toe syndactyly

Syndactyly with fusion of toes two to five.


Carnosinuria

An increased concentration of carnosine in the urine.


Hypertension associated with pheochromocytoma

A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

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


Abnormality of the middle phalanx of the 5th finger


Abnormal perceptual state

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


Nasogastric tube feeding

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


Aplasia/Hypoplasia of the middle phalanx of the 4th finger


Triangular epiphysis of the proximal phalanx of the 4th finger

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


Anti-ganglioside antibody positivity

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


pseudobulbar palsy

A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


Absent microvilli on the surface of peripheral blood lymphocytes

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


spondyloepimetaphyseal dysplasia

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


Progressive distal muscle weakness

Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

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


Reduced antral follicle count

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


Focal impaired awareness clonic seizure

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


Abnormal speech rhythm

Speech with abnormal rhythm or pattern


Cone-shaped epiphysis of the thumb

A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.


Wide space between 4th and 5th toe

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


Hypoganglionosis

Sparse and small myenteric ganglia


Aplasia/Hypoplasia of the tragus

Aplasia or developmental hypoplasia of the tragus.


Mesangiolysis

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


Reduced maximal expiratory pressure

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


Encysted hydrocele of the cord

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


oppositional defiant disorder

A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors.


Cardiac total anomalous pulmonary venous connection

Type 2 total anomalous pulmonary venous connection.


Aplasia/Hypoplasia of the quadriceps

Absence or underdevelopment of the quadriceps muscle.


Aplasia/Hypoplasia involving the metacarpal bones

Aplasia or Hypoplasia affecting the metacarpal bones.


Hyperextensibility of the finger joints

The ability of the finger joints to move beyond their normal range of motion.


Fractured proximal phalanx of pedal digit 1

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


Anti-class II HLA antibody positivity

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


Abnormal male germ cell morphology

A structural anomaly of a male reproductive cell.


Claw hand deformity

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


Triangular epiphyses of the 3rd finger

A triangular appearance of the epiphyses of the 3rd finger of the hand.


Altman type III sacrococcygeal teratoma

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


Persistent asymmetrical tonic neck reflex

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


mitochondrial complex II deficiency, nuclear type 1

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


Flared metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.


Anterior open-bite malocclusion

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


Atherosclerotic lesion

A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Proximal hyperreflexia

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


Generalized seborrheic dermatitis

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


Aplasia of the 4th finger

Absent 4th finger.


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

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


Polyotia

The presence of an extra auricle on one or both sides of the head.


Increased circulating lactate concentration

Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

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


Palmoplantar hypohidrosis

Decreased sweating on the palms and soles.


Abnormal endocrine physiology

Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Nevus flammeus of the forehead

Naevus flammeus localised in the skin of the forehead.


lipomyelomeningocele

Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome.


Abnormal calvaria morphology

Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.


Unguarded tricuspid valve

A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.


Decreased distal sensory nerve action potential

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


Enlarged brainstem

Abnormal increase in size of the brainstem.


Sclerosis of the middle phalanx of the 5th finger


Low semen volume

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


antecubital pterygium syndrome

Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.


Curvilinear subcortical heterotopia

Large subcortical heterotopia of variable morphology wiht streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.


Biliary hyperplasia

Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.


Mild short stature

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.


Abnormal stomach morphology

An abnormality of the stomach.


chordoma

Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


Megarectum

An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.


Abnormal circulating sulfur amino acid concentration

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


Focal aware sensory seizure with cephalic sensation

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


Abnormality of the middle phalanx of the 5th toe


Duplication of the distal phalanx of hand

This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Four-vessel umbilical cord

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


Abnormal glial cell morphology

An abnormality of the glia cell.


Coronal craniosynostosis

Premature closure of the coronal suture of skull.


Balanced double aortic arch

A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.


Duodenal gastric metaplasia

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


Abnormal platelet lysosome secretion

Abnormal release of lysosome contents from platelets.


Atrioventricular valve regurgitation

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


Localized pulmonary hemorrhage

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


Altman type I sacrococcygeal teratoma

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


lethal infantile mitochondrial myopathy

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


Mixed total anomalous pulmonary venous connection

Type 4 total anomalous pulmonary venous connection.


Sclerosis of skull base

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


Areflexia of upper limbs

Inability to elicit tendon reflexes in the upper limbs.


Bloodstream infectious agent

The presence of an infectious agent in the blood circulation.


Abnormal fetal skeletal morphology

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


Malrotation of colon

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


Ectopic pancreatic tissue

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


Broad philtrum

Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.


Abnormal subpleural morphology

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


Hypoplastic right atrium

Underdeveloped, small right heart atrium.


Rounded atelectasis

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


Neck hypertonia

Increased passive stiffness or tightness of the neck musculature.


Intrahepatic biliary atresia

Atresia in the intrahepatic bile duct.


Anti-Complement factor H antibody positivity

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


Use of another person's body to communicate

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


High, narrow palate

The presence of a high and narrow palate.


Progeroid facial appearance

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.


Broad femoral neck

An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


dysgammaglobulinemia

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


Increased level of gamma-aminobutyric acid in urine

Elevated concentration of gamma-aminobutyric acid in the urine.


Right ventricular dilatation

Enlargement of the chamber of the right ventricle.


Abnormal bronchoalveolar fluid protein level

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


Elevated coagulation factor V activity

Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.


Thin lower lip vermilion

Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).


Delayed ossification of the scaphoid

Formation of bone tissue of scaphoid is less than expected for age.


Decreased thalamic volume

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


Absent middle phalanx of 3rd finger

Absence of the middle phalanx of the middle (3rd) finger.


cobblestone lissencephaly

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


Bilateral talipes equinovarus

Bilateral clubfoot deformity.


Abnormal granulocyte count

Any deviation from the normal cell count per volume of granulocytes in the blood circulation.


Delayed menarche

First period after the age of 15 years.


Polyclonal elevation of IgM

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


Abnormal male reproductive system physiology

An abnormal functionality of the male genital system.


Brittle scalp hair

Fragile, easily breakable scalp hair.


monilethrix

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


Myokymia

Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.


Inappropriate laughter

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


Distal widening of metacarpals

Abnormal increase in width of the distal region of the metacarpal bones.


Perisylvian predominant thick cortex pachygyria

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


Elevated circulating rT3/T3 ratio

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


Decreased circulating androgen concentration

A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


acoustic neuroma

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


Congenital hypertrophy of left ventricle


Increased circulating 18-hydroxycortisone level

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


Primary vesicoureteral reflux

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


Sclerosis of hand bones with transverse striations


Abnormal ventricular filling

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


Hippocampal microinfarct

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


Anti-Gerbich phenotype 1 antibody positivity

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


Triangular shaped middle phalanx of the 5th finger

Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Multinucleated neuron

Neurons that contain more than one nucleus.


Neonatal electro-clinical motor seizure

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


Supraventricular tachycardia with a concealed accessory pathway on the septum


Triangular shaped proximal phalanges of the hand


Abnormal renal vascular morphology

Anomalous structure of a blood vessel in the kidney.


Torus palatinus

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


Imperforate atrioventricular valve

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


Pulmonary situs ambiguus with bilateral morphologic right lungs

An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.


Unicoronal synostosis

Synostosis affecting only one of the coronal sutures.


Fractured epiphysis of third metatarsal bone

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


Ivory epiphysis of the proximal phalanx of the 5th toe


hereditary episodic ataxia

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


Deviation of the hallux

Displacement of the big toe from its normal position.


Focal autonomic seizure with lacrimation

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


Increased urinary fucosylated oligosaccharide

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


Rheumatoid factor positive

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


Increased erythrocyte uroproporphyrin concentration

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


Focal impaired awareness emotional seizure with crying

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


Intestinal duplication

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


Decreased palmar creases

Poorly defined or shallow palmar creases.


Elbow flexion contracture

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


Mandibular osteomyelitis

Osteomyelitis of the lower jaw.


Stiff toe

A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.


Reduced erythrocyte glutathione concentration

Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


Sclerosis of the distal phalanx of the 2nd finger


Curved proximal phalanx of the 5th finger

Curved appearance of the proximal phalanx of the 5th finger.


Proximal muscle weakness

A lack of strength of the proximal muscles.


Hallux valgus

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


Absent dermoepidermal hemidesmosomes

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


Fractured lateral malleolus of fibula

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


Sternocleidomastoid amyotrophy

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


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


Bladder trabeculation

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


Abnormal lymphocyte proliferation

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


Reduced alpha-2-antiplasmin activity

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


dentin dysplasia

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


T2 hypointense brainstem

A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.


Narrow pelvis bone

Reduced side to side width of the pelvis.


Anti-granulocyte-macrophage colony stimulating factor antibody positivity

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


Eclabion

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


Facial hypertrichosis

Excessive, increased hair growth located in the facial region.


A reduction of the distance between thoracolumbar vertebral pedicles.


odontoid hypoplasia

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


Flexion contracture of the 5th toe

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


Slender ulna

Reduction in diameter of the ulna.


autosomal recessive nonsyndromic hearing loss 4

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


Abnormal upper motor neuron morphology

Any structural anomaly that affects the upper motor neuron.


Myocardial immune cell infiltration

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


Medullary peritubular capillary lumen cholesterol emboli

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


Abnormality of the tongue

Any abnormality of the tongue.


Gastrointestinal dysmotility

Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.


Fatty streak

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


Finger hyperphalangy

Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.


Arcuate artery intimal mucoid edema

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


Aplasia of the 1st metacarpal

Absent first metacarpal (long bone) of the hand.


Abnormal jejunum morphology

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


Decreased circulating ficolin 3 concentration

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


Diminished breath sounds

A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.


Patchy sclerosis of the proximal phalanx of the 2nd finger

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


Chronotropic incompetence

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


Bathrocephaly

A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.


Decreased serum thromboxane B2

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


Platyspondyly

A flattened vertebral body shape with reduced distance between the vertebral endplates.


Increased uridine diphosphate glucose-4-epimerase level in red blood cells

An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


D-2-hydroxyglutaric aciduria

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


Elevated urine glycolate

An increased concentration of glycolate in the urine.


Pulmonary arterial medial hypertrophy

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


Aganglionosis of the small intestine

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


Percussion-induced rapid rolling muscle contractions

Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.


Abnormal functional residual capacity

A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.


Curved distal phalanx of the hallux

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


Focal verbal automatism seizure

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


4-Hydroxyphenylpyruvic aciduria

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


Y-shaped metacarpals

Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.


Progressive leg bowing

Progressive bending or abnormal curvature of the leg.


Positive enterovirus urine nucleic acid test

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


Aplasia/Hypoplasia of the 5th metacarpal

Aplasia or Hypoplasia affecting the 5th metacarpal.


Quadriceps muscle atrophy

Muscular atrophy involving the quadriceps muscle.


Pseudoepiphysis of the middle phalanx of the 5th toe

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


Ungual fibroma

Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).


Abnormal pulmonary thoracic imaging finding

This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.


Exercise-induced U wave inversion

U wave inversion that is induced by exercise stress testing.


Agenesis of permanent maxillary lateral incisor

Agenesis of one or more upper lateral secondary incisor.


Elevated circulating pristanic acid concentration

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


Abnormal pericardium morphology

An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.


Extremely elevated creatine kinase

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


Labial adhesion

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


Bradylalia

Slow speech.


Triangular shaped proximal phalanx of the 5th finger

Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


3-4 finger syndactyly

Syndactyly with fusion of fingers three and four.


Hyperchloremic metabolic acidosis

A form of metabolic acidosis with increased serum chloride levels.


Compound motor action potential abnormality

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


Normochromic microcytic anemia

A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.


Distal amyotrophy

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


2--hydroxyphenylacetic aciduria

Increased concentration of 2-hydroxyphenylacetic acid in the urine.


Purely bicuspid aortic valve

A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.


Autoamputation

Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.


Increased cerebral lipofuscin

Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Abnormal fingertip morphology

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


Rachitic rosary

A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary.


Myocardial sarcomeric disarray

A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.


Cortical irregularity of humeral diaphysis

An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.


Aplasia/Hypoplasia of the earlobes

Absence or underdevelopment of the ear lobes.


Abnormality of the phalanges of the 5th toe


Curved distal phalanx of the 2nd toe

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


Muscle hypertrophy of the lower extremities

Muscle hypertrophy primarily affecting the legs.


Thinning of outer muscular layer of small bowel

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


Asymmetric limb muscle stiffness

Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.


Absence of renal corticomedullary differentiation

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


Partial duplication of the distal phalanx of the 3rd toe

Partial duplication of distal phalanx of third toe.


Hypoplastic ilia

Underdevelopment of the ilium.


Anteriorly placed odontoid process

Anterior mislocalization of the dens of the axis.


Toe clinodactyly

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


Focal aware cognitive seizure with auditory agnosia

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


Abnormality of the distal phalanx of the 3rd toe


Visceral hemangioma

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


Diminished integration of verbal and non-verbal communicative behavior

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


Intratubular calcium phosphate casts

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


Spinal neurenteric cyst

A neurenteric cyst located in the spine.


Anti-GD1b IgM antibody positivity

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


Atrophy/Degeneration involving the caudate nucleus


Anti-nuclear matrix protein-2 antibody positivity

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


Oligosacchariduria

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


Amniotic constriction rings of legs

Amniotic constriction rings affecting the legs.


Mesangial fibrillary deposits

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


Thin spermatozoon midpiece

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


Limb apraxia

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


Abnormality of genioglossus muscle

An abnormality of a genioglossus muscle.


Joint contracture of the 3rd finger

Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.


Abnormal ossification of the pubic bone

Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.


Prefrontal hypometabolism in FDG PET

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


Abnormal femoral neck morphology

An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).


Intrahepatic cholestasis with episodic jaundice


Reticulate pigmentation of oral mucosa

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


Corpus callosum atrophy

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


Multiple meningiomas

The occurrence of multiple distinct meningiomas in the same individual.


Aplasia of the proximal phalanx of the hallux


Abnormal CSF histidine concentration

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


Postexertional symptom exacerbation

Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.


conotruncal heart malformations

Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).


Sacral hypertrichosis

Excessive, increased hair growth located in the sacral region.


Aplasia/Hypoplasia of the thymus

Absence or underdevelopment of the thymus.


Elevated mean arterial pressure

An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.


Recurrent protozoan infections

Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.


Paranasal sinus hypoplasia

Underdevelopment of the paranasal sinuses.


Palmar neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.


Bracket epiphysis of the distal phalanx of the 5th finger

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


Patchy sclerosis of 2nd toe phalanx

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


Abnormal circulating tryptophan concentration

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


Ulnar deviation of the hand or of fingers of the hand


Chondroitin sulfate excretion in urine

An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.


Stippling of the epiphysis of the distal phalanx of the 3rd finger

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


Urticarial plaque

A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.


Irregular epiphysis of the distal phalanx of the 2nd finger

Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.


Superior crossed-fused renal ectopia

A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.


Gastrocnemius myalgia

Pain of the gastrocnemius muscle.


Multiflagellar spermatozoa

Spermatozoa with multiple flagella attached to the sperm head.


Childhood onset sensorineural hearing impairment

Sensorineural hearing impairment with childhood onset.


Broad forearm bones

Abnormally wide bone of the skeleton of forearm.


Mirror image foot polydactyly

Mirror image duplication of digits affecting the feet.


Paraspinal neurofibroma

A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.


Low 10-minute APGAR score

A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.


Basal lamina onion bulb formation

A type of onion bulb formation prominently affecting the area of the basal lamina.


Elevated CSF neurofilament light chain concentration

Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large calibre myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.


Recurrent gram-negative bacterial infections

Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.


Duplication of the distal phalanx of the hallux


Cone-shaped capital femoral epiphysis

A cone-shaped deformity of the proximal epiphysis of the femur.


Semilunar tooth

An incisor with a half-moon shape incisal edge.


Aplasia/Hypoplasia involving bones of the skull


Extension contracture of toe

A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Abnormality of the distal phalanx of the 2nd finger


Abnormality of skin adnexa physiology

Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.


Increased erythrocyte coproporphyrin concentration

Concentration of coproporphyrin in erythrocytes above the upper limit of normal.


Cone-shaped epiphysis of the proximal phalanx of the 4th finger

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


Focal impaired awareness cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.


Ollier disease

A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.


Abnormal circulating nicotinurate concentration

Any deviation from the normal concentration of nicotinurate in the blood.


Osteolytic defects of the proximal phalanx of the 4th finger

Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.


Bracket epiphysis of the middle phalanx of the 2nd finger

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


Patchy sclerosis of the distal phalanx of the 2nd toe


Peripheral pulmonary artery stenosis

Stenosis of a peripheral branch of the pulmonary artery.


Telangiectasia of the skin

Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.


Reduced subcutaneous adipose tissue

A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.


Hammertoe

Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.


Delayed ossification of pubic rami

Delayed maturation and calcification of the rami (branches) of the pubic bone.


Arcuate intimal/medial venulitis

Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.


Excessive insulin response to glucagon test

An abnormally high increase in insulin levels following a glucagon stimulation test.


Elevated carcinoma antigen 125 level

An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.


Deep palmar crease

Excessively deep creases of the palm.


Periungual teleangiectasia

Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.


Neutrophil nuclear clefts

An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.


Branched-chain aminoaciduria

An increased level of a branched chain family amino acid in the urine.


Reduced CSF cystine concentration

Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.


Tapered phalanx of finger

Phalanges of the fingers becoming thinner toward the distal end.


Alveolar septal thickening

Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.


Increased circulating specific IgE antibody


Deficit in nonword repetition

Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.


Airway mucosal thickening

Increase in thickness of the mucosa of the airways above the upper limit of normal.


Decreased circulating transcobalamin II concentration

Concentration of transcobalamin II in the blood circulation below the lower limit of normal.


Renal sodium wasting

An abnormally increased sodium concentration in the urine in the presence of hyponatremia.


Femoral arterial calcification

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


Coronary sinus diverticulum

A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.


Basilar impression

Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.


Partial absence of specific antibody response to meningococcus vaccine

A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Abnormal proportion of naive CD4 T cells

Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.


Small foramen magnum

An abnormal narrowing of the foramen magnum.


Abnormal pituitary glycoprotein hormone alpha subunit level

Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).


Focal-onset epileptic spasm

A type of epileptic spasm of focal onset.


Myotonia of the jaw

Slowed relaxation of muscles in the jaw.


Increased circulating fetuin A concentration

An elevation above normal of fetuin A in the blood circulation.


eosinophilic fasciitis

Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed.


Moderate expressive language delay

A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Enlarged vertebral pedicles

Increased size of the vertebral pedicle.


Finger syndactyly

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


Second toe symphalangism

Fusion of the interphalangeal joints of the 2nd toe.


occipital encephalocele

A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.


Exercise-induced myalgia

The occurrence of an unusually high amount of muscle pain following exercise.


Reduced respiratory ciliary beating frequency

An abnormal reduction in the number of beats per unit time of the respiratory cilia.


Ventriculomegaly

An increase in size of the ventricular system of the brain.


Patchy sclerosis of the proximal phalanx of the 2nd toe


Anti-beta-2-Glycoprotein I IgM antibody positivity

Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.


Labial melanotic macule

Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.


Fetal intraventricular hemorrhage without ventriculomegaly

A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.


Subchorionic thrombohematoma

A large maternal clot that separates the chorionic plate from the villous chorion.


Abnormal tendon morphology

An abnormality of the structure or form of the tendons, also often called sinews.


Fractured middle phalanx of manual digit 4

A partial or complete breakage of the middle phalanx of manual digit 4.


Increased circulating T4 concentration

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


Nephroblastomatosis

Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.


Abnormality of the epiphysis of the proximal phalanx of the 2nd finger


Chronic decreased circulating IgE

A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.


Non-motor seizure

A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.


Abnormal granulocyte morphology

Any structural abnormality or abnormal count of granulocytes.


Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal

Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.


Acromelia of the upper limbs

Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.


Anti-GT1b antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.


Lupus anticoagulant

Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.


Vertebrobasilar dolichoectasia

Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.


Increased proportion of immature B cells

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


Bacteria in cerebrospinal fluid

Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.


Cleft lip

A gap in the lip or lips.


Reduced circulating complement factor H related protein 1 concentration

Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.


adrenal cortex neoplasm

A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05)


Cutaneous hamartoma

A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.


Decreased HDL3c concentration

A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Unilateral cryptorchidism

Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.


tricuspid valve insufficiency

The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve.


rhabdomyosarcoma

A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites.


Increased left ventricular end-diastolic volume

Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).


benign urinary system neoplasm

A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma.


Focal cortical dysplasia type IIId

A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.


cyclic hematopoiesis

A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.


second branchial cleft anomaly

A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck.


Femoral spur

A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.


Absent circulating immunoglobulin kappa chain

Nondetectable kappa chain in the blood circulation.


Short distal phalanx of hallux

Underdevelopment (hypoplasia) of the distal phalanx of big toe.


congenital velopharyngeal incompetence

Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech.


Reduced delayed hypersensitivity

Decreased ability to react to a delayed hypersensitivity skin test.


akinetic mutism

A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67)


Decreased circulating apolipoprotein B concentration

Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.


Flared lower limb metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.


atypical teratoid rhabdoid tumor

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.


Elevated circulating hexanoylcarnitine concentration

Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.


Abnormal interlobular vein morphology

Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).


Reduced vital capacity

An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.


Distal femoral bowing

A bending or abnormal curvature of the distal portion of the femur.


Aplasia/Hypoplasia of the phalanges of the 3rd finger


Fragmentation of the epiphysis of the middle phalanx of the 4th finger

Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.


Abnormal CSF urate concentration

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


mediastinum teratoma

A teratoma that involves the mediastinum.


Urethral stricture

Narrowing of the urethra associated with inflammation or scar tissue.


Abnormal blood transition element cation concentration

An abnormality of the homeostasis (concentration) of transition element cation.


Bite cells

Red blood cells that appear to have parts of them bitten away.


Neonatal short-limb short stature

A type of short-limbed dwarfism that is manifest beginning in the neonatal period.


Abnormal atrioventricular valve physiology

Any functional defect of the mitral or tricuspid valve.


Abnormal gametogenesis

An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.


Widely-spaced maxillary central incisors

Increased distance between the maxillary central permanent incisor tooth.


Paroxysmal rectal pain

Excruciating burning pain in the rectal area that may be triggered by defecation.


Increased circulating ferritin concentration

Increased concentration of ferritin in the blood circulation.


Triangular epiphyses of the phalanges of the hand

A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.


Carotid cavernous fistula

An abnormal connection between a carotid artery and the cavernous sinus.


Narrow anterio-posterior vertebral body diameter

An abnormal reduction of the anterioposterior diameter of the vertebral body.


Abnormal position of hair whorl

Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.


Elevated urine guanidinoacetic acid level

The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Symphalangism affecting the proximal phalanges of the toes


Hypothalamic luteinizing hormone-releasing hormone deficiency

Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.


Elevated circulating lathosterol concentration

Concentration of lathosterol in the blood circulation above the upper limit of normal.


Type 3 schizencephaly

A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal grey matter.


Elevated plasma cell count

An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.


Reduced alpha/beta synthesis ratio

A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.


Episodic vomiting

Paroxysmal, recurrent episodes of vomiting.


X-linked hypohidrotic ectodermal dysplasia

An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.


Agenesis of the anterior commissure

Absence of the anterior commissure.


Short clavicles

Reduced length of the clavicles.


Reduced response to another's attempt to get direct attention

There is a diminished interest in all individuals, including both peers and non-peers.


Abnormal corpus callosum morphology

Abnormality of the corpus callosum.


Focal aware cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.


Interlobular intima/media venosclerosis

Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.


Adverse drug response

An unpleasant or harmful reaction resulting from treatment with a drug.


Advanced tarsal ossification

Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.


Delivery by Odon device

The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.


Enlarged hippocampus

Increase in size of the hippocampus.


Intratubular bilirubin casts

A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).


Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells

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


Enlarged epiphysis of the distal phalanx of the hallux


Arteriovenous fistulas of celiac and mesenteric vessels


Abnormal peritoneum morphology

An abnormality of the peritoneum.


Abnormality of head or neck

An abnormality of head and neck.


Ivory epiphysis of the middle phalanx of the 5th toe


exercise-induced malignant hyperthermia

Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.


Metacarpophalangeal joint contracture

A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.


Upper limb muscle weakness

Weakness of the muscles of the arms.


Anterior creases of earlobe

Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.


Patchy sclerosis of 5th finger phalanx

Uneven increase in bone density of one or more of the phalanges of the 5th finger.