Phonic tics

description: Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.


Pseudo-fractures

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

description: A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.


Abnormality of the scalp hair

description: An abnormality of the hair of head.


Slow-growing scalp hair

description: Scalp hair whose growth is slower than normal.


Thickened cortex of bones

description: An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.


Broad 2nd toe

description: A broad appearance of the second toe.


Broad 3rd toe

description: A broad appearance of the third toe.


Broad 4th toe

description: A broad appearance of the fourth toe.


Broad 5th toe

description: A broad appearance of the fifth toe.


name: Fragmentation of the epiphyses of the 2nd toe


Ivory epiphyses of the 2nd toe

description: Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Stippling of the epiphyses of the 2nd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.


name: Fragmentation of the epiphyses of the 3rd toe


Ivory epiphyses of the 3rd toe

description: Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Stippling of the epiphyses of the 3rd toe

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


name: Fragmentation of the epiphyses of the 4th toe


Ivory epiphyses of the 4th toe

description: Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Stippling of the epiphyses of the 4th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.


name: Fragmentation of the epiphyses of the 5th toe


Ivory epiphyses of the 5th toe

description: Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Stippling of the epiphyses of the 5th toe

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


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


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


name: Abnormality of the epiphysis of the proximal phalanx of the 2nd toe


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


name: Abnormality of the epiphysis of the middle phalanx of the 3rd toe


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


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


name: Abnormality of the epiphysis of the middle phalanx of the 4th toe


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


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


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


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


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


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


name: Cone-shaped epiphysis of the distal phalanx of the 2nd toe


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


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


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


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


name: Pseudoepiphysis of the distal phalanx of the 2nd toe


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


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

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


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


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


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


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


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


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


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


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


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

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


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


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

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


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


name: Absent epiphysis of the proximal phalanx of the 2nd toe


name: Bracket epiphysis of the proximal phalanx of the 2nd toe


name: Cone-shaped epiphysis of the proximal phalanx of the 2nd toe


name: Enlarged epiphysis of the proximal phalanx of the 2nd toe


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


name: Irregular epiphysis of the proximal phalanx of the 2nd toe


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


name: Pseudoepiphysis of the proximal phalanx of the 2nd toe

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


name: Small epiphysis of the proximal phalanx of the 2nd toe


name: Stippling of the epiphysis of the proximal phalanx of the 2nd toe

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


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


Abnormality of the pubic hair

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


Abnormality of the axillary hair

description: Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.


name: Absent epiphysis of the distal phalanx of the 3rd toe


name: Bracket epiphysis of the distal phalanx of the 3rd toe


name: Cone-shaped epiphysis of the distal phalanx of the 3rd toe


name: Enlarged epiphysis of the distal phalanx of the 3rd toe


name: Fragmentation of the epiphysis of the distal phalanx of the 3rd toe


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


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


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


name: Small epiphysis of the distal phalanx of the 3rd toe


name: Stippling of the epiphysis of the distal phalanx of the 3rd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.


name: Triangular epiphysis of the distal phalanx of the 3rd toe


name: Absent epiphysis of the middle phalanx of the 3rd toe


name: Bracket epiphysis of the middle phalanx of the 3rd toe


name: Cone-shaped epiphysis of the middle phalanx of the 3rd toe


name: Enlarged epiphysis of the middle phalanx of the 3rd toe


name: Fragmentation of the epiphysis of the middle phalanx of the 3rd toe


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


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


name: Pseudoepiphysis of the middle phalanx of the 3rd toe


name: Small epiphysis of the middle phalanx of the 3rd toe


name: Stippling of the epiphysis of the middle phalanx of the 3rd toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.


name: Triangular epiphysis of the middle phalanx of the 3rd toe


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


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


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


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


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


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


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


name: Pseudoepiphysis of the proximal phalanx of the 3rd toe

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


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


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.


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


Fragmented epiphyses

description: Fragmented appearance of the epiphyses.


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


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


name: Cone-shaped epiphysis of the distal phalanx of the 4th toe


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


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


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


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


name: Pseudoepiphysis of the distal phalanx of the 4th toe


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


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.


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


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


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


name: Cone-shaped epiphysis of the middle phalanx of the 4th toe


name: Enlarged epiphysis of the middle phalanx of the 4th toe


name: Fragmentation of the epiphysis of the middle phalanx of the 4th toe


name: Irregular epiphysis of the middle phalanx of the 4th toe


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


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

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


name: Small epiphysis of the middle phalanx of the 4th toe


name: Stippling of the epiphysis of the middle phalanx of the 4th toe

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.


name: Triangular epiphysis of the middle phalanx of the 4th toe


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


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


name: Cone-shaped epiphysis of the proximal phalanx of the 4th toe


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


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


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


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


name: Pseudoepiphysis of the proximal phalanx of the 4th toe

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


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


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

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.


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


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


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


name: Cone-shaped epiphysis of the distal phalanx of the 5th toe


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


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


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


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


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


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


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

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


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


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


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


name: Cone-shaped epiphysis of the middle phalanx of the 5th toe


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


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


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


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


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

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


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


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

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


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


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


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


name: Cone-shaped epiphysis of the proximal phalanx of the 5th toe


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


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


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


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


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

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


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


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

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


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


name: Synostosis involving bones of the upper limbs

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


Synostosis of joints

description: The abnormal fusion of neighboring bones across a joint.


Ectopic respiratory mucosa

description: Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.


Recurrent singultus

description: A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.


Hemiballismus

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


Calcification of muscles

description: Deposition of calcium salts in muscle tissue.


Meningeal calcification

description: Calcium deposition affecting the Meninges.


Multiple central nervous system lipomas

description: The presence of multiple lipomas located in the central nervous system.


name: Abnormality of the medullary cavity of the long bones

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


name: Stenosis of the medullary cavity of the long bones


Senile plaques

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


Preaxial polydactyly

description: A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.


Abnormal tendon morphology

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


Synostosis of carpals/tarsals

description: The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.


Lip pit

description: A depression located on a lip.


Upper lip pit

description: Depression located on the vermilion of the upper lip, usually paramedian.


Paramedian lip pit

description: Depression located paramedially on the vermilion of a lip.


name: Abnormality of dorsoventral patterning of the limbs

description: An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.


Hyponasal speech

description: Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.


Branchial sinus

description: A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.


Gustatory lacrimation

description: Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.


Diffuse cerebellar atrophy

description: Diffuse unlocalised atrophy affecting the cerebellum.


Skin pit

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


Periauricular skin pits

description: Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.


Chronic colitis

description: A chronic inflammatory disease of the large intestine (colon, cecum and rectum).


Acute colitis

description: An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).


name: EMG: continuous motor unit activity at rest

description: Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.


EMG: myotonic discharges

description: High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.


name: EMG: impaired neuromuscular transmission

description: An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).


EMG: slow motor conduction

description: The presence of reduced conduction velocity of motor nerves on electromyography.


EMG: myokymic discharges

description: The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.


name: Abnormality of pattern reversal visual evoked potentials


name: Abnormality of peripheral somatosensory evoked potentials


name: Delayed somatosensory central conduction time

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


Amyloidosis of peripheral nerves

description: The presence of amyloid deposition in the nerves of the peripheral nervous system.


Hypertrophied muscle fibers

description: The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.


Increased endomysial connective tissue

description: An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.


Muscle fiber tubular inclusions

description: Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.


name: Muscle fiber cytoplasmatic inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.


name: Muscle fiber intranuclear inclusion bodies

description: The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.


Ring fibers

description: Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.


Muscle fiber hyaline bodies

description: Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria.


Cerebral cortical hemiatrophy

description: Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.


Subdural hemorrhage

description: Hemorrhage occurring between the dura mater and the arachnoid mater.


Epidural hemorrhage

description: Hemorrhage occurring between the dura mater and the skull.


Cerebral ventricular adhesions

description: Bands of scar-like tissue that hve formed within a cerebral ventricle.


Cerebral germinoma

description: The presence of a germ cell tumor of the cerebrum.


Cerebral granulomatosis

description: Cerebral inflammation 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.


Cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.


Hirano bodies

description: Intracellular aggregates of actin and actin-associated proteins within nerve cells.


Argyrophilic inclusion bodies

description: Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.


Lafora bodies

description: An intraneuronal inclusion body composed of acid mucopolysaccharides.


Cerebral hyaline bodies

description: Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.


Rosenthal fibers

description: Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.


Abnormal dentate nucleus morphology

description: An abnormality of the dentate nucleus.


Juvenile aseptic necrosis

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


Immunologic hypersensitivity

description: Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.


Cow milk allergy

description: Hypersensitivity in form of an adverse immune reaction against cow milk protein.


Carpometacarpal synostosis

description: Fusion involving carpal and metacarpal bones.


Unilateral cleft lip

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


Non-midline cleft of the upper lip

description: Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.


Bilateral cleft lip

description: A non-midline cleft of the upper lip on the left and right sides.


Bilateral cleft palate

description: Nonmidline cleft palate on the left and right sides.


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

description: The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


name: Contracture of the proximal interphalangeal joint of the 3rd toe

description: The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


name: Contracture of the proximal interphalangeal joint of the 4th toe

description: The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


name: Contractures of the proximal interphalangeal joint of the 5th toe

description: The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.


name: Contracture of the distal interphalangeal joint of the 2nd toe

description: The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.


name: Contracture of the distal interphalangeal joint of the 3rd toe

description: The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.


name: Contracture of the distal interphalangeal joint of the 4th toe

description: The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.


name: Contractures of the distal interphalangeal joint of the 5th toe

description: The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.


name: Contracture of the metatarsophalangeal joint of the 2nd toe

description: The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.


name: Contracture of the metatarsophalangeal joint of the 3rd toe

description: The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively.


name: Contracture of the metatarsophalangeal joint of the 4th toe

description: The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.


name: Contracture of the metatarsophalangeal joint of the 5th toe

description: The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.


Upper-limb joint contracture

description: A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Short phalanx of the 3rd toe

description: Developmental hypoplasia of the phalanx of third toe.


Short phalanx of the 4th toe

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


Short phalanx of the 5th toe

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


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


name: Aplasia/Hypoplasia of the distal phalanx of the 4th toe


name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe


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


name: Aplasia/Hypoplasia of the middle phalanx of the 4th toe


name: Aplasia/Hypoplasia of the middle phalanx of the 5th toe


name: Aplasia/hypoplasia of the proximal phalanx of the 3rd toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.


name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


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

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


Absent distal phalanx of the 3rd toe

description: Developmental aplasia of the distal phalanx of third toe.


name: Aplasia of the distal phalanx of the 4th toe


name: Aplasia of the distal phalanx of the 5th toe


Absent middle phalanx of the 3rd toe

description: Developmental aplasia of the middle phalanx of third toe.


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


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


Absent proximal phalanx of the 3rd toe

description: Absence of proximal phalanx of third toe, owing to a congenital defect of development.


name: Aplasia of the proximal phalanx of the 4th toe


name: Aplasia of the proximal phalanx of the 5th toe


name: Aplasia of the middle phalanges of the toes


name: Aplasia of the proximal phalanges of the toes


Short distal phalanx of the 3rd toe

description: Developmental hypoplasia of the distal phalanx of third toe.


Short distal phalanx of the 4th toe

description: Developmental hypoplasia of the distal phalanx of fourth toe.


Short distal phalanx of the 5th toe

description: Developmental hypoplasia of the distal phalanx of little toe.


Short middle phalanx of the 3rd toe

description: Developmental hypoplasia of the middle phalanx of third toe.


Short middle phalanx of the 4th toe

description: Developmental hypoplasia of the middle phalanx of fourth toe.


Short middle phalanx of the 5th toe

description: Developmental hypoplasia of the middle phalanx of the 5th toe.


Short proximal phalanx of the 3rd toe

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


Short proximal phalanx of the 4th toe

description: Developmental hypoplasia of the proximal phalanx of fourth toe.


Short proximal phalanx of the 5th toe

description: Developmental hypoplasia of the proximal phalanx of fifth toe.


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

description: Partial or complete duplication of distal phalanx of third toe.


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

description: Partial or complete duplication of the distal phalanx of fourth toe.


name: Duplication of the distal phalanx of the 5th toe

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


name: Duplication of the middle phalanx of the 3rd toe

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


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

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


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

description: Partial or complete duplication of the middle phalanx of the 5th toe.


name: Duplication of the proximal phalanx of the 3rd toe

description: Partial or complete duplication of proximal phalanx of third toe.


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

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


name: Duplication of the proximal phalanx of the 5th toe

description: Partial or complete duplication of the proximal phalanx of fifth toe.


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

description: Complete duplication of distal phalanx of third toe.


name: Complete duplication of the distal phalanx of the 4th toe

description: Complete duplication of the distal phalanx of fourth toe.


name: Complete duplication of the distal phalanx of the 5th toe

description: Complete duplication of the distal phalanx of little toe.


name: Complete duplication of the middle phalanx of the 3rd toe

description: Complete duplication of middle phalanx of third toe.


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

description: Complete duplication of middle phalanx of fourth toe.


description: Complete duplication of the middle phalanx of the 5th toe.


name: Complete duplication of the proximal phalanx of the 3rd toe

description: Complete duplication of proximal phalanx of third toe.


name: Complete duplication of the proximal phalanx of the 4th toe


name: Complete duplication of the proximal phalanx of the 5th toe

description: Complete duplication of the proximal phalanx of fifth toe.


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

description: Partial duplication of distal phalanx of third toe.


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

description: Partial duplication of the distal phalanx of fourth toe.


name: Partial duplication of the distal phalanx of the 5th toe

description: Partial duplication of the distal phalanx of little toe.


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

description: Partial duplication of middle phalanx of third toe.


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

description: Partial duplication of middle phalanx of fourth toe.


description: Partial duplication of the middle phalanx of the 5th toe.


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

description: Partial duplication of proximal phalanx of third toe.


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


name: Partial duplication of the proximal phalanx of the 5th toe

description: Partial duplication of the proximal phalanx of fifth toe.


name: Bullet-shaped middle phalanx of the 3rd toe

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


name: Bullet-shaped middle phalanx of the 4th toe

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


name: Bullet-shaped middle phalanx of the 5th toe

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


name: Bullet-shaped proximal phalanx of the 3rd toe

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


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

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


name: Bullet-shaped proximal phalanx of the 5th toe

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


name: Bullet-shaped distal phalanx of the 3rd toe

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


name: Bullet-shaped distal phalanx of the 4th toe

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


name: Bullet-shaped distal phalanx of the 5th toe

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


Curved middle phalanx of the 3rd toe

description: A deviation from the normal straight form of the middle phalanx of the third toe.


Curved middle phalanx of the 4th toe

description: A deviation from the normal straight form of the middle phalanx of the fourth toe.


Curved middle phalanx of the 5th toe

description: A deviation from the normal straight form of the middle phalanx of the fifth toe.


Curved proximal phalanx of the 3rd toe

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


Curved proximal phalanx of the 4th toe

description: A deviation from the normal straight form of the proximal phalanx of the fourth toe.


Curved proximal phalanx of the 5th toe

description: A deviation from the normal straight form of the proximal phalanx of the fifth toe.


Curved distal phalanx of the 3rd toe

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


Curved distal phalanx of the 4th toe

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


Curved distal phalanx of the 5th toe

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


name: Osteolytic defects of the middle phalanx of the 3rd toe


name: Osteolytic defects of the middle phalanx of the 4th toe


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


name: Osteolytic defects of the proximal phalanx of the 3rd toe


name: Osteolytic defects of the proximal phalanx of the 4th toe


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


name: Osteolytic defects of the distal phalanx of the 3rd toe


name: Osteolytic defects of the distal phalanx of the 4th toe


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


name: Patchy sclerosis of the middle phalanx of the 3rd toe


name: Patchy sclerosis of the middle phalanx of the 4th toe

description: Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


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

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


name: Patchy sclerosis of the proximal phalanx of the 3rd toe


name: Patchy sclerosis of the proximal phalanx of the 4th toe

description: Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.


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

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


name: Patchy sclerosis of the distal phalanx of the 3rd toe


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

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


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

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


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


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


name: Symphalangism affecting the middle phalanx of the 5th toe


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


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


name: Symphalangism affecting the proximal phalanx of the 5th toe


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


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


name: Symphalangism affecting the distal phalanx of the 5th toe


name: Proximal/middle symphalangism of 3rd toe

description: Bony fusion of the middle and proximal phalanges of the 3rd toe.


name: Proximal/middle symphalangism of 4th toe

description: Bony fusion of the middle and proximal phalanges of the 4th toe.


name: Proximal/middle symphalangism of 5th toe

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


name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


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


name: Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal


name: Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal


name: Triangular shaped distal phalanx of the 5th toe


name: Synostosis of the proximal phalanx of the hallux with the 1st metatarsal


name: Proximal/middle symphalangism of 2nd toe

description: Bony fusion of the middle and proximal phalanges of the 2nd toe.


Camptodactyly of finger

description: The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


Abnormal mast cell morphology

description: Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.


name: Abnormality of the vitamin B3 metabolism


Recurrent bronchiolitis

description: An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.


name: Decreased circulating vitamin B1 concentration

description: The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.


name: Decreased circulating vitamin B5 concentration

description: The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.


name: Decreased circulating vitamin B8 concentration

description: The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.


Reduced blood folate concentration

description: A reduced circulating concentration of folic acid, which is also known as vitamin B9.


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


name: Decreased circulating vitamin E concentration

description: A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.


name: Abnormal circulating vitamin E concentration

description: Concentration of vitamin E in the blood circulation outside of normal limits.


Pollakisuria

description: Increased frequency of urination.


Dysuria

description: Painful or difficult urination.


Oliguria

description: Low output of urine, clinically classified as an output below 300-500ml/day.


Limb duplication

description: Congenital duplication of all or part of a limb.


Urachus fistula

description: Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.


Abnormal blood phosphate concentration

description: An abnormality of phosphate homeostasis or concentration in the body.


name: Abnormal circulating calcium-phosphate regulating hormone concentration

description: Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.


Wind-swept deformity of the knees

description: The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.


Inflammatory abnormality of the eye

description: Inflammation of the eye, parts of the eye or the periorbital region.


Episcleritis

description: Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.


Abnormality of the fascia

description: An abnormality of fascia.


Abnormality of the supraorbital ridges

description: An anomaly of the supraorbital portion of the frontal bones.


Periorbital edema

description: Edema affecting the region situated around the orbit of the eye.


Palpebral edema

description: Edema in the region of the eyelids.


Femoral hernia

description: A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.


Abnormal localization of kidney

description: An abnormal site of the kidney.


Cognitive impairment

description: Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.


Arterial stenosis

description: Narrowing or constriction of the inner surface (lumen) of an artery.


Abnormal forebrain morphology

description: An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.


Exstrophy

description: Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.


Tendon rupture

description: Breakage (tear) of a tendon.


Hemihypertrophy of lower limb

description: Overgrowth of only one leg.


Hemihypertrophy of upper limb

description: Overgrowth of only one arm.


Asymmetric growth

description: A growth pattern that displays an abnormal difference between the left and the right side.


Hemiatrophy

description: Undergrowth of the limbs that affects only one side.


Hemiatrophy of lower limb

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


Hemiatrophy of upper limb

description: Unilateral atrophy (reduction in size) of an arm.


Lower limb asymmetry

description: A difference in length or diameter between the left and right leg.


Upper limb asymmetry

description: Difference in length or size between the right and left arm.


Diplomyelia

description: Duplication of the spinal cord.


Diastomatomyelia

description: Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.


Triplomyelia

description: Triplication of the spinal cord - extremely rare.


Hydromyelia

description: Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.


Amyelia

description: Congenital absence of the spinal cord.


Abnormally ossified vertebrae

description: An abnormality of the formation and mineralization of one or more vertebrae.


Fibrous cardiac diverticulum

description: A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.


Lipoatrophy

description: Localized loss of fat tissue.


Mucosal telangiectasiae

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


Dilatation of renal calices

description: An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.


Corneal perforation

description: A rupture of the cornea through which a portion of the iris protrudes.


Telangiectasia of the skin

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


Sterile pyuria

description: Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.


Abnormal preputium morphology

description: An abnormality of the retractable fold of skin that covers the tip of the penis.


Urogenital fistula

description: The presence of a fistula affecting the genitourinary system.


Rectal fistula

description: The presence of a fistula affecting the rectum.


Peritoneal abscess

description: The presence of an abscess of the peritoneum.


Calcification of cartilage

description: The presence of calcium deposition in cartilage.


Esophageal web

description: Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).


Absent nares

description: The nostrils (the paired channels of the nose) are not present.


Dysmenorrhea

description: Pain during menstruation that interferes with daily activities.


Metrorrhagia

description: Bleeding at irregular intervals.


Maternal hyperphenylalaninemia

description: A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.


Multiple glomerular cysts

description: The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.


Death in early adulthood

description: Death between the age of 16 and 40 years.


Maternal seizure

description: A seizure during pregnancy.


Abnormal corpus cavernosum morphology

description: A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.


Displacement of the urethral meatus

description: A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).


Midline facial cleft

description: A congenital malformation with a cleft (gap or opening) in the midline of the face.


Carotid paraganglioma

description: A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.


Pulmonary paraglioma

description: A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.


Erectile dysfunction

description: A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.


Abnormality of nail color

description: An anomaly of the color of the nail.


Melanonychia

description: Brown or black discoloration of the nails.


Cystocele

description: Anterior vaginal wall prolapse with bulging of the bladder into the vagina.


Thoracoabdominal wall defect

description: Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.


Thoracoabdominal eventration

description: Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.


Abnormal cerebral vascular morphology

description: An anomaly of the cerebral blood vessels.


Dyskinesia

description: A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


Chondritis

description: Inflammation of cartilage.


Synotia

description: A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.


Intestinal duplication

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


name: Abnormal pigmentation of the oral mucosa

description: An abnormality of the pigmentation of the mucosa of the mouth.


Coarse metaphyseal trabecularization

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


Abnormal trabecular bone morphology

description: Abnormal structure or form of trabecular bone.


Vaginal hernia

description: The presence of a hernia of the vagina.


Vaginal hydrocele

description: A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.


Premature skin wrinkling

description: The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.


Esophageal duplication

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


Tracheal atresia

description: A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.


Abnormal Sharpey fiber morphology

description: An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.


Polyotia

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


Decreased corneal thickness

description: A decreased anteroposterior thickness of the cornea.


name: Abnormality of the curvature of the cornea


Increased corneal curvature

description: An increase in the degree of curvature of the cornea compared to normal.


Iridodonesis

description: Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.


Tibial torsion

description: Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.


Subcutaneous neurofibroma

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


Scarring

description: A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.


Abnormal arachnoid mater morphology

description: An abnormality of the Arachnoid mater.


Abnormal pia mater

description: An abnormality of the pia mater.


Tongue thrusting

description: Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns


Cerebral visual impairment

description: A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.


Abnormal glial cell morphology

description: An abnormality of the glia cell.


Abnormal oligodendroglia morphology

description: One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.


Abnormal astrocyte morphology

description: An abnormality of astrocytes.


Abnormal microglia morphology

description: An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.


Impulsivity

description: Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.


Abnormal thoracic spine morphology

description: An abnormality of the thoracic vertebral column.


Abnormal lumbar spine morphology

description: Any structural abnormality of the lumbar vertebral column.


Self-injurious behavior

description: Self-aggression.


Abnormal cementum morphology

description: Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).


Uterine rupture

description: The complete, nonsurgical disruption of all layers of the uterus.


Lens coloboma

description: A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.


Mediastinal lymphadenopathy

description: Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.


Lichenification

description: Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.


Transverse facial cleft

description: A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.


Abnormal vertebral epiphysis morphology

description: An anomaly of one or more epiphyses of one or more vertebrae.


Hypertensive crisis

description: A severe, acute increase in blood pressure that may result in stroke or myocardial ischemia.


Abnormal soft palate morphology

description: An abnormality of the soft palate.


Abnormal eating behavior

description: Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.


Abnormality of the humeroulnar joint

description: An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.


Chest pain

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


Atelectasis

description: Collapse of part of a lung associated with absence of inflation (air) of that part.


Abnormal liver lobulation

description: Formation of abnormal lobules (small masses of tissue) in the liver.


Mania

description: A state of abnormally elevated or irritable mood, arousal, and/or energy levels.


Gangrene

description: A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).


Clubbing of toes

description: Terminal broadening of the toes (distal phalanges of the toes).


Hemobilia

description: Bleeding into the biliary tree.


Abnormality of the tonsils

description: An abnormality of the tonsils.


Abnormal lymphatic vessel morphology

description: A structural anomaly of the vessel that contains or conveys lymph fluid.


Abnormal placenta morphology

description: An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.


Hyperperistalsis

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


Hypoperistalsis

description: Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.


Dural ectasia

description: A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.


Recurrent pharyngitis

description: An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.


Urogenital sinus anomaly

description: A rare birth defect in women where the urethra and vagina both open into a common channel.


Conjunctival hamartoma

description: A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.


Abnormal sacroiliac joint morphology

description: An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).


Breast aplasia

description: Failure to develop and congenital absence of the breast.


Fused lips

description: Lack of separation of the upper and lower lips.


Torus palatinus

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


Hernia

description: The protrusion of part of an organ or fibroadipose tissue through an abnormal opening.


Acantholysis

description: The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.


Abnormally straight spine

description: The absence of the normal curvature of the vertebral column.


Toenail dysplasia

description: An abnormality of the development of the toenails.


Fingernail dysplasia

description: An abnormality of the development of the fingernails.


Aplasia/Hypoplasia of the pancreas

description: A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.


Pancreatic aplasia

description: Aplasia of the pancreas.


Malposition of the stomach

description: Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.


Abnormality of the periungual region

description: An abnormality of the region around the nails of the fingers or toes.


Ungual fibroma

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


Sepsis

description: Systemic inflammatory response to infection.


Long fingers

description: The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.


Gastric diverticulum

description: An outpouching of the gastric wall.


Scalp tenderness

description: Pain or discomfort of the scalp elicited by palpation.


Aplasia/Hypoplasia of the colon

description: Congenital absence or underdevelopment of the colon.


Halitosis

description: Noticeably unpleasant odors exhaled in breathing.


Long thorax

description: Increased inferior to superior extent of the thorax.


Intestinal fistula

description: An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.


Rectocele

description: A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.


Neoplasm of the nail

description: A tumor (abnormal growth of tissue) of the nail.


Lymphocytosis

description: Increase in the number or proportion of lymphocytes in the blood.


Increased T cell count

description: An abnormal increase in the total number of T cells detected in the blood.


Abnormality of vitamin K metabolism

description: Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.


Vitreous floaters

description: Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.


name: Benign neoplasm of the central nervous system

description: A neoplasm that arises from the central nervous system and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.


name: Malignant neoplasm of the central nervous system

description: A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.


Recurrent cutaneous abscess formation

description: An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.


Hepatic agenesis

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


Aplasia/Hypoplasia of the eyebrow

description: Absence or underdevelopment of the eyebrow.


Pancreatic fistula

description: An abnormal communication between the pancreas and another organ or cavity.


Neoplasm of the male external genitalia

description: A tumor (abnormal growth of tissue) of the male external genitalia.


Abnormal emotion

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


Abnormal fear-induced behavior

description: An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.


Hypoplastic areola

description: Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.


Aplasia of the musculature

description: Absence of the musculature.


Triceps hypoplasia

description: Hypoplasia of the triceps muscle.


Poorly ossified vertebrae

description: Decreased ossification of the vertebral bodies.


Flat sella turcica

description: An abnormally flat sella turcica.


Dilatation of celiac artery

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


name: Dilatation of superior mesenteric artery

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


name: Dilatation of Inferior mesenteric artery

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


Sclerotic vertebral body

description: Increase in bone density of the vertebral body.


Short femoral neck

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


Broad ischia

description: Increased width of the ischium, which forms the lower and back part of the hip bone.


Short iliac bones

description: Underdevelopment of the iliac bones.


Duodenal stenosis

description: The narrowing or partial blockage of a portion of the duodenum.


Palmar telangiectasia

description: The presence of telangiectases on the skin of palm of hand.


Plantar telangiectasia

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


Abnormal palm morphology

description: An abnormality of the palm, that is, of the front of the hand.


Abnormality of the plantar skin of foot

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


Thick hair

description: Increased density of hairs, i.e., and elevated number of hairs per unit area.


Hemimacroglossia

description: Increased length and width of one half of the tounge.


Infra-orbital crease

description: Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.


Renal diverticulum

description: Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.


Enlarged uterus

description: An increase in the overall dimensions or volume of the uterus compared to normal.


Nephrogenic rest

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


Compensatory scoliosis

description: A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.


Lateral venous anomaly

description: Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.


Abnormality of globe location

description: An abnormality in the placement of the ocular globe (eyeball).


Abnormality of globe size

description: An abnormality in the size of the ocular globe (eyeball).


Abnormal ductus choledochus morphology

description: An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.


Bifid xiphoid process

description: A cleft of the xiphoid process of the sternum.


Abnormality of the xiphoid process

description: An abnormality of the xiphoid process of the sternum.


Prominent xiphoid process

description: Increased prominence of the xiphoid process of the sternum.


Broad xiphoid process

description: Increased side-to-side width of the xiphoid process of the sternum.


Connective tissue nevi

description: Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.


Sclerosis of finger phalanx

description: An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


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


name: Sclerosis of the distal phalanx of the 3rd finger


name: Sclerosis of the distal phalanx of the 4th finger


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


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


name: Sclerosis of the middle phalanx of the 3rd finger


name: Sclerosis of the middle phalanx of the 4th finger


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


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


name: Sclerosis of the proximal phalanx of the 3rd finger


name: Sclerosis of the proximal phalanx of the 4th finger


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


name: Sclerosis of the distal phalanx of the thumb

description: An elevation of bone density in the distal phalanx of the thumb.


name: Sclerosis of the proximal phalanx of the thumb

description: An elevation of bone density in the proximal phalanx of the thumb.


Sclerosis of distal finger phalanx

description: An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of middle finger phalanx

description: An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of proximal finger phalanx

description: An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 2nd finger phalanx

description: An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 3rd finger phalanx

description: An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 4th finger phalanx

description: An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 5th finger phalanx

description: An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Clavicular sclerosis

description: An increase in bone density within the clavicle.


Sclerosis of toe phalanx

description: An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of foot bone

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


Sclerosis of 2nd toe phalanx

description: An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 3rd toe phalanx

description: An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 4th toe phalanx

description: An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of 5th toe phalanx

description: An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of hallux phalanx

description: An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


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

description: An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


name: Sclerosis of the proximal phalanx of the 3rd toe

description: An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


name: Sclerosis of the proximal phalanx of the 4th toe


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


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


name: Sclerosis of the middle phalanx of the 3rd toe

description: An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


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


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


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


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

description: An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.


name: Sclerosis of the distal phalanx of the 4th toe


name: Sclerosis of the distal phalanx of the 5th toe


name: Sclerosis of the proximal phalanx of the hallux


name: Sclerosis of the distal phalanx of the hallux


Sclerosis of proximal toe phalanx

description: An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of middle toe phalanx

description: An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Sclerosis of distal toe phalanx

description: An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.


Enlarged sylvian cistern

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


Open operculum

description: Underdevelopment of the operculum.


Abnormal renal medulla morphology

description: Any structural abnormality of the medulla of the kidney.


Narrow foramen obturatorium

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


Dense metaphyseal bands

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


Lateral ventricular asymmetry

description: Abnormal difference in size between the left and right lateral cerebral ventricles.


Enlarged hippocampus

description: Increase in size of the hippocampus.


Excessive shyness

description: Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.


Hyperesthesia

description: Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.


Dysharmonic skeletal maturation

description: Different levels of maturation of different bones.


Dysharmonic accelerated bone age

description: A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.


Splayed epiphyses

description: Flaring (widening) of the epiphysis.


Abnormal shape of the palpebral fissure

description: The presence of an abnormal shape of the palpebral fissure.


Abnormal size of the palpebral fissures

description: An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.


Neoplasm of fatty tissue

description: A tumor (abnormal growth of tissue) of adipose tissue.


Acrokeratosis

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


Corneal erosion

description: An erosion or abrasion of the cornea's outermost layer of epithelial cells.


Down-sloping shoulders

description: Low set, steeply sloping shoulders.


Premature chromatid separation

description: The presence of premature sister chromatid segregation.


Mandibular pain

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


Ocular pain

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


Pretibial myxedema

description: A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.


Kayser-Fleischer ring

description: Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.


Papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.


Skin plaque

description: A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.


Skin nodule

description: Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.


Skin vesicle

description: A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.


Pustule

description: A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.


Skin erosion

description: A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.


Skin ulcer

description: A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.


Cat cry

description: The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.


Chondritis of pinna

description: Inflammation of the cartilage of the external ear.


Upper limb hypertonia

description: Increased muscle tone observed in the arms of the affected person.


Hemihypotrophy of lower limb

description: Shortening of a leg affecting only one side.


Small hand

description: Disproportionately small hand.


Macular scar

description: Scar tissue in the macula.


Marcus Gunn pupil

description: An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.


Metastatic angiosarcoma

description: An angiosarcoma that has spread to another anatomical site.


Asymmetry of iris pigmentation

description: Asymmetry between the two irides or asymmetry between different parts of one iris.


Peripheral vitreoretinal degeneration

description: A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


name: Respiratory insufficiency due to defective ciliary clearance


Giant cell hepatitis

description: Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.


Triangular-shaped open mouth

description: A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.


Oral mucosal blisters

description: Blisters arising in the mouth.


Absent skin pigmentation

description: Lack of skin pigmentation (coloring).


Absent fifth fingernail

description: Absence of nail of little finger.


Metabolic alkalosis

description: Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.


name: Recurrent upper and lower respiratory tract infections

description: Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.


Acute hepatitis

description: Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.


Chronic hepatitis

description: Hepatitis that lasts for more than six months.


name: Chronic hepatitis due to cryptosporidium infection

description: Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.


Atrial cardiomyopathy

description: Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.


Biventricular hypertrophy

description: Thickening of the heart walls in both ventricles.


Epileptic encephalopathy

description: A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.


Oral-pharyngeal dysphagia

description: Difficulty in swallowing due to an abnormality in the mouth or throat.


Megaloblastic erythroid hyperplasia

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


Neuronal loss in basal ganglia

description: A reduction in the number of nerve cells in the basal ganglia.


name: Abnormal liver function tests during pregnancy


CSF lymphocytic pleiocytosis

description: An increased lymphocyte count in the cerebrospinal fluid.


name: Increased serum bile acid concentration during pregnancy


name: Agenesis of permanent mandibular lateral incisor


name: Agenesis of primary mandibular lateral incisor


Tall chin

description: Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.


Chin with vertical crease

description: Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.


Extra concha fold

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


Focal absence of the external ear

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


Long ear

description: Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Short ear

description: Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.


Polymenorrhea

description: Frequent menses; menstrual cycles lasting less than 21 days.


Menometrorrhagia

description: Prolonged/excessive menses and bleeding at irregular intervals.


Abnormal vomer morphology

description: An abnormality of the vomer.


Abnormality of ophthalmic artery

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


name: Abnormality of the peripheral nervous system

description: Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.


name: Abnormality of the somatic nervous system

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


Abnormality of somatic nerve plexus

description: Any abnormality of the somatic nerve plexus.


Abnormality of masticatory muscle

description: Any abnormality of the masticatory muscle.


Abnormal mouth floor morphology

description: Any abnormality of the mouth floor.


Abnormality of the submandibular region

description: Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.


Abnormal ganglion morphology

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


name: Abnormal peripheral nervous system ganglion morphology

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


Abnormal cranial ganglion morphology

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


Recurrent ear infections

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


Epigastric pain

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


Fish odor

description: Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.


Musty odor

description: Pungent body odor.


Vaginal fish odor

description: A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).


name: Abnormal distribution of cell junction proteins in buccal mucosal cells

description: An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.


Abnormal periodontium morphology

description: Any abnormality of the periodontium.


Alveolar bone loss around teeth

description: A decrease in the amount of alveolar bone around the root of a tooth.


Recurrent oral herpes

description: Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.


Cleft lip

description: A gap in the lip or lips.


Submucous cleft of soft and hard palate

description: Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.


Unilateral alveolar cleft of maxilla

description: One sided alveolar cleft of the maxilla.


Bilateral alveolar cleft of maxilla

description: Nonmidline alveolar cleft of the maxilla.


Abnormal T cell activation

description: Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.


Abnormal liver morphology

description: Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.


Abnormal neural tube morphology

description: Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).


name: Decreased level of 1,5 anhydroglucitol in serum

description: A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.


name: Increased level of 3-hydroxy-3-methylglutaric acid in urine

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


Increased level of allantoin in serum

description: An increase in the level of allantoin in the serum.


name: Elevated circulating gamma-aminobutyric acid concentration

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


name: Decreased circulating GABA concentration

description: A decrease in the level of GABA in the serum.


Decreased level of erythritol in urine

description: A decrease in the level of erythritol in the urine.


Decreased CSF erythritol concentration

description: Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.


Increased level of D-threitol in plasma

description: An increase in the level of D-threitol in the plasma.


Increased CSF D-threitol concentration

description: The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.


Increased level of D-threitol in urine

description: An increase in the level of D-threitol in the urine.


Decreased level of D-mannose in urine

description: A decrease in the level of D-mannose in the urine.


Increased level of galactitol in plasma

description: An increase in the level of galactitol in the plasma.


Increased level of galactitol in urine

description: An increase in the level of galactitol in the urine.


name: Increased level of galactonate in red blood cells

description: An increase in the level of galactonate in the red blood cells.


name: Increased level of galactitol in red blood cells

description: An increase in the level of galactitol in the red blood cells.


name: Increased level of hippuric acid in blood

description: An increase in the level of hippuric acid in the blood.


name: Increased level of hippuric acid in urine

description: An increase in the level of hippuric acid in the urine.


Increased level of L-fucose in urine

description: An increase in the level of L-fucose in the urine.


name: Increased level of propylene glycol in blood

description: An increase in the level of propylene glycol in the blood.


Increased level of ribitol in urine

description: An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.


Increased CSF ribitol concentration

description: The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.


Increased level of ribose in urine

description: An increase in the level of ribose in the urine.


Increased CSF ribose concentration

description: The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.


Increased level of xylitol in urine

description: An increase in the level of xylitol in the urine.


Increased CSF xylitol concentration

description: The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.


name: Increased level of L-pyroglutamic acid in urine

description: An increase in the level of L-pyroglutamic acid in the urine.


Exercise induced anaphylaxis

description: Anaphylaxis after physical activity.


name: Abnormal circulating biotinidase concentration

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


name: Decreased circulating biotinidase concentration

description: Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.


name: Elevated circulating biotinidase concentration

description: Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.


Drug-induced anaphylaxis

description: A form of anaphylaxis that is triggered by intake of drugs or medications.


name: Eosinophilic infiltration of the esophagus

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


name: Eosinophilic microabscess formation in the esophagus

description: The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.


name: Increased level of methylsuccinic acid in urine

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


name: Increased level of myristic acid in serum

description: An increase in the level of myristic acid in the serum.


name: Increased level of N-acetylneuraminic acid in urine

description: An increase in the level of N-acetylneuraminic acid in the urine.


name: Increased level of N-acetylneuraminic acid in fibroblasts

description: An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.


Defective interstrand cross-link repair

description: A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.


name: Abnormal morphology of the chest musculature

description: Any abnormality of the chest muscles.


Abnormality of the back musculature

description: Any abnormality of the back muscles.


name: Abnormal morphology of the shoulder musculature

description: Any abnormality of the shoulder muscles.


Hippocampal atrophy

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


Increased cotinine level

description: Increased concentration of cotinine in urine.


Blood xenobiotic

description: The presence of a xenobiotic in blood.


name: Increased circulating troponin I concentration

description: An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.


name: Increased circulating troponin T concentration

description: An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.