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

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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.


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).


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.


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.


Autoamputation

Spontaneous detachment (amputation) of an appendage from the body.


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.


spastic ataxia

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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.


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.


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.


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).


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.


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.


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.


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.


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 arcuate veins of the kidney, which may involve only the intima or 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.


Increased circulating specific IgE antibody


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.


Deficit in nonword repetition

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


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.


Femoral spur

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


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.


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

An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.


Elevated circulating hexanoylcarnitine concentration

Increased concentration of hexanoylcarnitine in the blood circulation.


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.


Symphalangism affecting the proximal phalanges of the toes


Hypothalamic luteinizing hormone-releasing hormone deficiency

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


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.


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 maternal serum alpha-fetoprotein

An elevation of alpha-feto protein in the maternal serum.


Short clavicles

Reduced length of the clavicles.


Reduced response to another's attempt to get direct attention

A reduced interest in all people 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


Abnormality of the peritoneum

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


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.


Receptive language delay

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


Difficulty understanding nonliteral meaning of conversation


Anti-HLA-B antibody positivity

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).


Absent epiphysis of the proximal phalanx of the thumb

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


Reduced prothrombin consumption

The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.


Intellectual disability, borderline

Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.


superficial spreading melanoma

A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi.


Fusiform aortic arch aneurysm

A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.


Fractured elbow joint

A partial or complete breakage of the elbow joint.


Absent scrotum

Congenital absence of the scrotum.


Osteolysis involving bones of the upper limbs


Anti-SOX1 antibody

The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


Ventilator dependence with inability to wean


teeth, fused

The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.


Bronchial artery hypertrophy

Increase in the volume of bronchial artery wall due to the enlargement of its component cells.


Lemon sign

The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.


Cylindruria

The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.


Facet joint arthrosis

Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.


Focal absence of the external ear

Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).


cervical rib disease

A rib that is attached to a cervical vertebra or enlarged transverse processes.


familial congenital mirror movements

Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.


congenital vertical talus

Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus.


Fibular duplication

Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.


Abnormal periosteum morphology

An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.


Cortical radial artery lymphocyte hypercellularity

A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.


Granulomatous coronary arteritis

Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.


Generalized hypertrichosis

Generalized excessive, abnormal hairiness.


Vocal cord dysfunction

Any functional anomaly of the vocal cord.


Moderate global developmental delay

A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.


commissural facial cleft

Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)


bifid nose

Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated.


Fractured distal tarsal bone 3

A partial or complete breakage of the distal tarsal bone 3.


Pelvic arteriovenous malformation

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


Subependymal cysts

Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.


Abnormality of the scalp hair

An abnormality of the hair of head.


Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


Impaired annexin V binding to platelet phosphatidylserine

Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.


Portal inflammation

Infiltration of portal fields by inflammatory cells.


Cessation of head growth

Stagnation of head growth seen as flattening of the head circumference curve.


Facial hyperostosis

Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.


Nail pits

Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.


Chronic partially decreased circulating IgG1

A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.


2-4 toe syndactyly

Syndactyly with fusion of toes two to four.


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


Rightward direction of ventricular apex

Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.


Kappa Bence Jones proteinuria

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


Small epiphysis of the distal phalanx of the 3rd finger

Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.


trigonocephaly

Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.


Progressive sclerosis of skull base

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


Anti-beta 2 glycoprotein I antibody positivity

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


Abnormal brain choline level by MRS

A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Elevated alkaline phosphatase of renal origin

An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.


Abnormality of the stapes

An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.


Premature loss of primary teeth

Loss of the primary (also known as deciduous) teeth before the usual age.


Decreased peak expiratory flow

A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.


Focal impaired awareness sensory seizure with gustatory features

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


Decreased number of peripheral myelinated nerve fibers

A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).


Abnormal circulating fatty-acid concentration

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


Fractures, Closed

A traumatic break to the bone in which the continuity of the bone has not broken through the skin.


Abnormal cutaneous elastic fiber morphology

Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.


Abnormality of body weight

An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.


Blue urine

An abnormal blue color of the urine.


Nocturnal hypoventilation

An abnormal reduction in alveolar ventilation occuring during sleep. This is characterized by a rise in arterial carbon dioxide.


Elbow extension contracture

An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


ornithine aminotransferase deficiency

A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.


Focal aware autonomic seizure with lacrimation


Diastolic heart murmur

A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.


Abnormality of facial musculature

An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Hydroxyprolinuria

An increased concentration of 4-hydroxy-L-proline in the urine.


Short metacarpal

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.


Anti-centromere protein A antibody positivity

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


Abnormality of the metopic suture

The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a "metopic suture".


Abnormal circulating IgM level

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


Proximal tapering of metacarpals

Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.


EEG with focal sharp slow waves

EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


Metatarsal osteolysis

Osteolysis involving metatarsal bones.


Abnormality in emotional social interactions


pulmonary tuberculosis

A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss.


Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


Periorificial hyperkeratosis

Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


Recurrent gingivitis

Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.


Abnormality of the phalanges of the 2nd finger

Abnormality of the phalanges of the 2nd (index) finger.


Meningeal calcification

Calcium deposition affecting the Meninges.


Basal ganglia necrosis

Death of cells in the basal ganglia.


Decreased CSF erythritol concentration

A decrease in the level of erythritol in the cerebrospinal fluid.


Abnormal QRS complex

An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.


Short proximal phalanx of the 4th finger

Hypoplastic/small proximal phalanx of the fourth finger.


Dysmorphic hematuria

The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.


Chronic cutaneous wound

A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.


Myocardial steatosis

Steatosis in the myocardium.


Abnormality of dental eruption

An abnormality of tooth eruption.


Abnormal sperm axoneme morphology

Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.


Increased urine harderoporphyrin level

Increased amount of harderoporphyrin in the urine.


Acroosteolysis of distal phalanges (feet)


Hot water-induced seizure

A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.


Aplasia/Hypoplasia of the distal phalanx of the 2nd toe


Decreased proportion of marginal zone B cells

A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.


Prominent palatine ridges

Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.


Cerebellar dysplasia

Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.


Symphalangism of middle phalanx of finger

Fusion of a middle phalanx of a finger with another bone.


Hypertrophy of the upper limb

Abnormal increase in size of the upper limbs (due to an increase of the size of cells).


Anti-dsDNA antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.


Abnormal response to corticotropin releasing hormone stimulation test

An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.


Invasive dermatophyte infection

Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.


Ovoid vertebral bodies

When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.


Impaired oral bolus formation

An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.


Expanded metatarsals with widened medullary cavities


Focal sensory seizure with hot-cold sensations

A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.


Increased antral follicle count

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


Hypoplastic nasal bone

Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.


Anterolateral radial head dislocation

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


lumbar spinal stenosis

A spinal stenosis that involves the lumbar region of vertebral column.


Absent epiphysis of the distal phalanx of the 4th finger

Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.


Neoplasm by histology

Neoplasm categorized according to type of histological abnormality.


Abnormal renal arteriole lumen morphology

Abnormal structural characteristics of the interior space (lumen) of renal arterioles.


Impaired lymphocyte transformation with phytohemagglutinin

Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.


Flexion contracture of the 4th toe

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


Abnormal regional left ventricular contraction

A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.


Abnormal proportion of CD4-positive helper T cells

An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.


Abnormal CSF glutamate concentration

Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.


Flaky paint dermatosis

A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).


immunodeficiency due to selective anti-polysaccharide antibody deficiency

Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR).


Abnormal ulnar metaphysis morphology

Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.


Tongue tremor

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


Subsolid pulmonary nodule

Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.


Abnormal prostate morphology

An abnormality of the prostate.


Fascicular left ventricular tachycardia

A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).


Impaired renal tubular reabsorption of uric acid

Decreased renal tubular reabsorption of uric acid.


Focal cognitive seizure

A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.


Posterior fusion of lumbosacral vertebrae

Bony fusion of the posterior part of the L5 vertebral body with the sacrum.


A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.


Eosinophilic lymph node infiltration

Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


EEG with generalized spikes

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


Paroxysmal sneezing

Unprovoked explosive pathological sneezing.


Renal interstitial foam cells

Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.


Decreased circulating total IgA

Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).


Tactile hypersensitivity

A decreased tolerance to physical touch.


Abnormal ear physiology

Any functional anomaly of the ear.


Calcium oxalate crystalluria

The presence of calcium oxalate crystals in the urine.


Abnormal vaginal bleeding

Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


Left ventricular dilatation

Enlargement of the chamber of the left heart ventricle.


Degeneration of the lateral corticospinal tracts

Deterioration of the tissues of the lateral corticospinal tracts.


Long hallux

Increased length of the big toe.


Retractile testis

A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.


Partial absence of specific antibody response to unconjugated pneumococcus vaccine

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


Fatigable weakness of distal limb muscles

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


Abnormality of the distal phalanx of the 2nd toe


Recurrent patellar dislocation

Patellar dislocation occurring repeated times.


Allantoic cyst

A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.


Antalgic gait

To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.


Tremor by anatomical site

Tremor classified by the affected body part.


ankyloglossia

A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth.


amelogenesis imperfecta

Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.


Thin toenail

Toenail that appears thin when viewed on end.


Middle cerebral artery calcification

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


Hypophosphaturia

An abnormally decreased phosphate concentration in the urine.


C-cell hyperplasia

Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism).


L-2-hydroxyglutaric aciduria

An increase in the level of L-2-hydroxyglutaric acid in the urine.


congenital syphilis

A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia.


Esophageal exudate

An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.


Distal/middle symphalangism of 5th finger

Fusion of the terminal/distal and middle phalanges of the 5th finger.


Unilateral perisylvian polymicrogyria

A type of perisylvian polymicrogyria that largely affects one side of the brain.


Macular hypopigmented whorls, streaks, and patches


Curved 1st metatarsal

A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.


Abnormality of the middle phalanx of the 4th toe


Inappropriate behavior

An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.


Descending thoracic aorta aneurysm

An abnormal localized widening (dilatation) of the descending thoracic aorta.


Cerebral dysmyelination

Defective structure and function of myelin sheaths of the white matter of the brain.


Cortical radial artery intima/media necrosis

Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.


Focal cognitive seizure with neglect

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


Arteriosclerosis of small cerebral arteries

Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.


Abnormal transferrin saturation

Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.


Starch intolerance

An inability to digest starch.


Small epiphysis of the proximal phalanx of the 2nd toe


Palmomental reflex

A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.


Delayed ability to walk

A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.


EEG with generalized slow activity grade 3

Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.


Abnormal T3/T4 ratio

A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.


Anterior cerebral artery stenosis

Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.


pheochromocytoma

Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.


Congenital megalourethra

Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.


Developmental regression

Loss of developmental skills, as manifested by loss of developmental milestones.


Abnormality of T cell physiology

A functional anomaly of T cells.


Decreased HDL2b concentration

A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.


Absent epiphyses of the toes

Absence of the epiphyses of the phalanges of the toes.


fused mandibular incisors

Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure.


Focal motor status epilepticus

Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.


apnea, central sleep

The periodic cessation of breathing while asleep that occurs secondary to the decreased responsiveness of the respiratory center of the brain to carbon dioxide, resulting in alternating cycles of apnea and hyperpnea.


Increased level of carnosine in blood

An increased amount of carnosine in the blood.


Aplasia/hypoplasia of the proximal phalanx of the 5th toe

Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.


Splenic cyst

A closed sac located in the spleen.


Decreased circulating plasmalogen concentration

Reduced plasmalogen concentration in the blood circulation.


Pseudo-chilblains on fingers

Inflammatory chilblain-like nodules on the hands and/or fingers.


Right unicoronal synostosis

Unicoronal synostosis affecting only the right coronal suture.


Craniofacial teratoma

A teratoma located in the craniofacial region.


radial heads, posterior dislocation of

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


Abnormal morphology of the proximal phalanx of the 4th toe


False perception of self-motion

A perception that one's body is moving or swaying despite lack of motion of the body.


multinodular goiter

Nodular goiter characterized by more than one discrete tissue mass.


Camptodactyly of toe

Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.


Abnormal fallopian tube morphology

An abnormality of the fallopian tube.


Exercise-induced myoglobinuria

Presence of myoglobin in the urine following exercise.


Ageusia

A rare condition that is characterized by a complete loss of taste function of the tongue.


Sub-lamina densa cleavage

A type of blistering in which the cleavage plane of blisters is located below the lamina densa.


Abnormal lacrimal artery morphology

An abnormality of a lacrimal artery.


Acrokeratosis

Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.


Aplasia/Hypoplasia of the liver

Absence or underdevelopment of the liver.


Facial hypotonia

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Abnormal circulating serine family amino acid concentration

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


Abnormality of pancreas physiology

An anomaly of the function of the pancreas.


Recurrent streptococcus pneumoniae infections

Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.


neurodegenerative syndrome due to cerebral folate transport deficiency

A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.


Bounding pulse

Increased amplitude (strength) of the pulse.


Swan neck-like deformities of the fingers

A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.


Chronic noninfectious lymphadenopathy

A chronic form of lymphadenopathy that is not related to infection.


Small epiphyses of the proximal phalanges of the hand


fibromatosis

A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.


Congenital goiter

An enlargement of the thyroid gland with congenital onset.


Focal hemiclonic seizure

A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.


Perifollicular erythema

Redness surrounding the hair follicles.


Increased urinary 8-oxo-7,8-dihydroguanosine level

An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.


Spinal canal stenosis

An abnormal narrowing of the spinal canal.


perinatal lethal hypophosphatasia

A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.


Duplication of phalanx of hand

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


Underdeveloped antitragus

Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.


Serinuria

A increased concentration of serine in the urine.


Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Absent soft palate

A developmental defect characterized by lack of a soft palate.


Elevated erythrocyte adenosine triphosphate concentration

Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.


Abnormality of femur morphology

Any anomaly of the structure of the femur.


Abnormal shape of the frontal region

An abnormal shape of the frontal part of the head.


Short nasal bridge

Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.


Abnormality of the malleus

An abnormality of the malleus, an ossicle in the middle ear.


Abnormal CSF/serum albumin ratio

A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.


Malignant rhabdoid tumor of liver

A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


Complete or near-complete absence of specific antibody response to hepatitis B vaccine

The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


Speech articulation difficulties

Impairment in the physical production of speech sounds.


bladder exstrophy

Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.


Irregular phalanges

Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.


Alternating radiolucent and radiodense metaphyseal lines

Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.


Insect allergy

Hypersensitivity in form of an adverse immune reaction against insects.


dental pulp calcification

Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.


Abnormality of the pubic hair

Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.


Thoracoabdominal ectopia cordis

Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.


extrapulmonary tuberculosis

A tuberculosis that occurs at body sites other than the lung.


Auricular tag

Small protrusion within the pinna.


Hypoplasia of the capital femoral epiphysis

Underdevelopment of the proximal epiphysis of the femur.


Expanded terminal portion of crus of helix

Widening, rather than tapering, of the crus at its posterior border near the antihelix.


Abnormal femoral head morphology

An abnormality of the femoral head.


Fair hair

A lesser degree of hair pigmentation than would otherwise be expected.


oculo-auriculo-vertebral spectrum

A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.


Renal interstitial mononuclear cell infiltration

Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).


Periventricular heterotopia

A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.


Abnormality of the diencephalon

An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.


Recurrent sinusitis

A recurrent form of sinusitis.


Triangular shaped middle phalanx of the 4th finger

Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Triangular shaped middle phalanx of the 2nd toe


Facial hemangioma

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.


Abnormality of the amniotic fluid

Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.


Elevated circulating osteopontin level

Abnormally increased level of osteopontin in the blood circulation


Aortic isthmus hypoplasia

A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Thickened intrahepatic portal venules

Increased width of the vascular wall of portal venules within the liver.


Common origin of the right brachiocephalic artery and left common carotid artery

The left common carotid artery has a common origin with the innominate artery.


Ulnar claw

An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.


Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal


androgenetic alopecia

Absence of hair in the anterior midline and/or parietal areas.


Abnormal paranasal sinus morphology

Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.


panhypopituitarism

Insufficient production of all the anterior pituitary hormones.


fungal meningitis

Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts.


Finger agnosia

An inability or difficulty differentiating among the fingers of either hand as well as the hands of others.


Indurated nodule

A skin nodule that is unusually hard (indurated).


Aplasia/Hypoplasia of the distal phalanx of the 3rd finger


Superior cerebellar dysplasia

Abnormal morphological development of the superior part of the cerebellum.


Pelvic girdle muscle weakness

Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.


Asymmetry of the mouth

The presence of an asymmetric mouth.


Clonal T cell receptor rearrangement

Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.


Hypersegmentation of neutrophil nuclei in CSF

An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


Mild fetal ventriculomegaly

A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).


Sprengel deformity

A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).


Abnormal right ventricular function

Anomalous physiology (function) of the right ventricle.


Plagiocephaly

Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.


ependymoblastoma

Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


Curved proximal phalanx of the 3rd toe

A deviation from the normal straight form of the proximal phalanx of the third toe.


Impaired pain sensation

Reduced ability to perceive painful stimuli.


Abnormality of the diaphragm

Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.


Brachytelomesophalangy

Disproportionately short middle and distal phalanges compared to the hand/foot.


Premature closure of the ductus arteriosus

A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).


Radial deviation of the hand

An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).


Anti-thyroid peroxidase antibody positivity

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


Exercise-induced lactic acidemia

A form of lactic acidemia that occurs following exercise or exertion.


Liver hamartoma

A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


Ivory epiphysis of the middle phalanx of the 4th finger

Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.


Abnormal circulating gonadotropin concentration

An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Abnormal circulating eicosanoid concentration

Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).


Increased anti-drug IgE antibody level

Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


Extension contracture of finger

A type of finger 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.


Conical incisor

An abnormal conical morphology of the incisor tooth.


Abnormal CSF tyrosine concentration

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


Paratracheal lymphadenopathy

Enlargement of lymph nodes surrounding the trachea.


Abnormal hair whorl

An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).


Abnormal mandibular ramus morphology

An abnormality of a mandibular ramus.


Medial calcification of medium-sized arteries

Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.


Episodic abdominal pain

An intermittent form of abdominal pain.


Waddling gait

Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.


Partial duplication of the distal phalanx of the hallux


Increased CSF leucine concentration

Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal alpha-beta T cell morphology

A structuraly anomaly of T cells that express an alpha-beta T cell receptor.


Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


Decreased CSF valine concentration

Any decreased amount from normal of valine in the cerebrospinal fluid.


Halberd-shaped pelvis

An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).


Nezelof syndrome

Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.


Agenesis of putamen

A developmental defect characterized by the absence of the putamen owing to its failure to develop.


Decreased urinary urate

Decreased concentration of urate in the urine.


Hypodysplasia of the corpus callosum

Developmental defect characterized by a small and malformed corpus callosum.


Anti-signal recognition particle antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.


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

Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.


Neonatal multifocal myoclonic seizure

Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) wich occurs at multiple sites.


Secondary vesicoureteral reflux

Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.


Reduced arm span

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


Abnormal sella turcica morphology

Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.


Everted upper lip vermilion

Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.


Axonal degeneration/regeneration

A pattern of simultaneous degeneration and regeneration of axons (see comment).


Elevated brain choline level by MRS

An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal tongue physiology

Any functional anomaly of the tongue.


Renal intimal/medial arteriolitis

Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.


Hyperchloriduria

An increased concentration of chloride in the urine.


congenital afibrinogenemia

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.


Increased CSF ornithine concentration

Abnormally increased levels of ornithine in cerebrospinal fluid.


Trichodiscoma

A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.


Tetraphocomelia

Phocomelia involving all four extremities.


Madelung deformity

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.


Ovarian serous cystadenoma

A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.


Univentricular heart with absent left sided atrioventricular connection


Extra concha fold

Folds or ridges within the concha that are distinct from the crus helix.


Increased circulating mannose-binding protein concentration

Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.


Diagonal earlobe crease

Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.


Reduced bone mineral density

A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.


Renal arteriole neutrophil endoarterial hypercellularity

A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.


Decreased circulating IgD

An abnormally decreased level of immunoglobulin D (IgD) in blood.


Complete duplication of the proximal phalanx of the 3rd finger

Complete duplication of the third proximal phalanx of hand.


Impaired stimulus-induced skin wrinkling

A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).


Abnormal upper lip morphology

An abnormality of the upper lip.


Triangular epiphysis of the proximal phalanx of the 3rd toe


Double inlet right ventricle

The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.


proximal symphalangism

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.


Spontaneous neonatal pneumothorax

Pneumothorax occurring neonatally without traumatic injury to the chest or lung.


right aortic arch

An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.


Anti-nucleoporin 62 antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.


Decreased left ventricular end-diastolic volume

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


motor neuron disorder

A disease involving the motor neuron.


Early onset of sexual maturation

An early onset of puberty, in this case early does not refer to precocious.


Elevated circulating gamma-aminobutyric acid concentration

An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.


Bilateral tonic-clonic seizure with generalized onset

A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.


Focal aware autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.


Enlarged epiphysis of the distal phalanx of the 2nd toe


Abnormal corpus striatum morphology

Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.


Bullet-shaped 1st metatarsal

An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.


Hypoesthesia

Decreased ability to perceive touch.


Plantar telangiectasia

Telangiectases (small dilated blood vessels) located on the skin of sole of foot.


Focal cortical dysplasia

A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.


Humeral exostoses

Presence of more than one exostosis originating in one or noth humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.


Tonic status epilepticus

Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.


Aplasia/Hypoplasia of the distal phalanx of the hallux


Abnormal cervical spine morphology

Any morphological abnormality of the cervical vertebral column.


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


Open mouth

A facial appearance characterized by a permanently or nearly permanently opened mouth.


Status epilepticus with prominent motor symptoms

Status epilepticus with prominent motor signs during the prolonged seizure.


Monoclonal light chain cardiac amyloidosis

A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.


Mandibular aplasia

Absence of the mandible.


Recurrent viral upper respiratory tract infections

An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).