Interrupted pituitary stalk

description: A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.


Cupped metaphyses of hand bones

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


name: Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

description: An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.


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.


Abnormal vena cava morphology

description: An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.


Erythrocyte cylindruria

description: Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.


Kinesiophobia

description: An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.


Knee pain

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


cervical vertebrae, agenesis of

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

description: Agenesis of one or more vertebrae of the cervical vertebral column.


Fossa navicularis urethral stricture

description: A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.


name: Decreased circulating purine concentration

description: Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.


Abnormal antitragus morphology

description: An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.


2-ethylhydracylic aciduria

description: An increased concentration of 2-ethylhydracylic acid in the urine.


Intermittent lactic acidemia

description: An intermittent (discontinuous) form of lactic acidemia.


Abnormal auditory evoked potentials

description: An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.


Elevated fecal pH

description: Abnormally high fecal pH, i.e., abnormal alkalinity of feces.


Aplasia of the ovary

description: Aplasia, that is failure to develop, of the ovary.


Grade V vesicoureteral reflux

description: Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.


Abnormal pulmonary vein physiology

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


Club-shaped distal femur

description: An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.


name: hypertrichosis cubiti-short stature syndrome

description: Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.


Autoamputation of foot

description: The spontaneous detachment of a foot from the body due to long standing pathology.


Positive urine cocaine test

description: Detection of cocaine or its major metabolite, benzoylecgonine, in urine.


Abnormal localization of kidney

description: An abnormal site of the kidney.


Abnormality of von Willebrand factor

description: Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.


name: Abnormality of the protein C anticoagulant pathway

description: An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.


Intralobular septal thickening

description: Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.


EEG with periodic complexes

description: Periodically occurring generalized periodic complexes.


name: Supraventricular tachycardia with a manifest accessory pathway on the right free wall


varicose disease

description: A vascular disease characterized by the presence of enlarged and tortuous veins.


Draining sinus tract in skin

description: A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.


Apneic episodes in infancy

description: Recurrent episodes of apnea occurring during infancy.


name: Abnormality of hepatobiliary system physiology

description: A functional anomaly of the hepatobiliary system


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


Serpentine fibula

description: Elongated curved (S-shaped) fibulae.


name: Left aortic arch with retroesophageal right subclavian artery

description: Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.


Colonic arteriovenous malformation

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


name: Abnormal esterified to free carnitine ratio

description: Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.


name: Decreased proportion of class-switched memory B cells

description: A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.


name: Increased circulating interleukin 23 concentration

description: An abnormally increased concentration of interleukin 23 in the blood circulation.


name: Recurrent, involuntary, and intrusive distressing memories

description: After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.


Positive pathergy test

description: With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.


Duplication of proximal phalanx of toe

description: Partial/complete duplication of a proximal phalanx of toe.


name: Increased level of hexanoylglycine in urine

description: Elevated concentration of hexanoylglycine in the urine.


name: Fibrofatty replacement of right ventricular myocardium

description: Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


name: Metatarsal diaphyseal endosteal sclerosis

description: Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.


name: CSF anti-NMDA receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.


Abnormality of uvular muscle

description: An abnormality of the uvular muscle


Gluten allergy

description: Hypersensitivity in form of an adverse immune reaction against gluten.


name: Focal impaired awareness emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.


name: Aplasia/Hypoplasia involving the sinuses

description: Absence or underdevelopment of a cranial sinus or sinuses.


name: Peg-like central prominence of distal tibial metaphyses


name: Small epiphysis of the distal phalanx of the hallux


name: Focal impaired awareness sensory seizure with cephalic sensation

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


Reduced hair sulfur content

description: Abnormally low amount of sulfur in hair.


name: Abnormal circulating beta globulin level

description: A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.


name: Elevated urine 2-methylcitric acid level

description: Amount of 2-methylcitric acid in the urine above the upper limit of normal.


Intraventricular hemorrhage

description: Bleeding into the ventricles of the brain.


Lip discoloration

description: Lightening or darkening of the lips from their usual coloring.


Plasmacytosis

description: An abnormally increased number of plasma cells in tissues, exudates, or blood


Vestibular areflexia

description: Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.


Polyalveolar lobe

description: An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.


Reduced muscle carnitine level

description: A reduction in the level of carnitine in muscle tissue.


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

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


name: Flattened, squared-off epiphyses of tubular bones


Flattened femoral epiphysis

description: An abnormal flattening of an epiphysis of femur.


name: Increased proportion of effector memory CD4-positive, alpha-beta T cells

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


Calf muscle hypertrophy

description: Muscle hypertrophy affecting the calf muscles.


Repeated focal motor seizures

description: A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.


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.


Multiple bony cystic lesions

description: Presence of multiple cystic changes in multiple areas or multiple bones.


name: Neonatal insulin-dependent diabetes mellitus


Pachygyria

description: Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.


Elevated urine erythritol level

description: Amount of erythritol in the urine above the upper limit of normal.


Intercostal retractions

description: A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.


Fetal intracranial hemorrhage

description: Abnormal bleeding inside the skull (cranium) of a fetus.


Dilated vas deferens

description: Abnormal increase in diameter (expansion) of the vas deferens.


name: Decreased circulating iron concentration

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


Abnormal interest

description: Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.


Abnormality of hair texture

description: An abnormality of the texture of the hair.


name: Impaired ristocetin-induced platelet aggregation

description: Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.


Duplication of phalanx of 2nd finger

description: This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.


Renal tubular epithelial cell sloughing

description: At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.


name: Abnormal proportion of CD4-positive T cells

description: Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.


name: Patchy sclerosis of the proximal phalanx of the hallux


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


Esophageal furrows

description: Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).


Talipes calcaneovarus

description: A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.


name: Increased carotid artery intimal medial thickness

description: An increase in the combined thickness of the intima and media of the carotid artery.


Fluctuating splenomegaly

description: Intermittently increased size of the spleen.


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


name: Increased urinary 11-deoxytetrahydrocorticosterone level

description: An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.


name: Extension of hair growth on temples to lateral eyebrow

description: A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.


name: Absent Birbeck granules in Langerhans cells

description: Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.


Abnormal leukocyte morphology

description: An abnormality of leukocytes.


name: Focal impaired awareness pedal automatism seizure

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


name: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.


EEG with temporal sharp waves

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


Neuronal intranuclear inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.


Reduced object sharing

description: An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.


Tonofilament clumping

description: Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.


Enlarged metaphyses

description: Abnormal increase in size of one or more metaphyses.


name: myeloproliferative disorder, chronic, with eosinophilia


Arcuate vein medial hypertrophy

description: Increased thickness of middle layer of the arcuate veins of the kidney.


name: Abnormality of the musculature of the thorax

description: A disease or lesion affecting the muscles of the thorax.


name: Reduced proportion of mucosal-associated invariant T cells

description: A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.


Ureteral mass

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


Abnormal coronary sinus morphology

description: An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.


Posterior atrophy of corpus callosum

description: The presence of atrophy (wasting) of the posterior portion of the corpus callosum.


Abnormal atrial septum morphology

description: An abnormality of the interatrial septum.


Duplication of distal phalanx of toe

description: A partial or complete duplication of one or more distal phalanx of toe.


Decreased CSF epinephrine concentration

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


name: Agenesis of primary mandibular central incisor

description: Agenesis of lower primary incisor.


polyp of vocal cord

description: A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice.


name: Increased CSF phenylalanine concentration

description: Abnormally increased levels of phenylalanine in cerebrospinal fluid.


Short fetal humerus length

description: A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).


ovarian thecoma

description: A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign.


Leptomeningeal enhancement

description: Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.


Abdominal guarding

description: A voluntary contraction of the abdominal wall musculature to avoid pain.


name: Fetal intraventricular hemorrhage with periventricular hemorrhage

description: A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.


name: Complete duplication of the phalanges of the 3rd finger

description: A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


name: Focal impaired awareness cognitive seizure with memory impairment

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


name: Abnormal circulating neopterin concentration

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


T2 hypointense thalamus

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


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

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


Elevated urinary D-glyceric acid level

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


Abnormal erythrocyte physiology

description: Any functional abnormality of erythrocytes (red-blood cells).


name: Cuboid-shaped thoracolumbar vertebral bodies


triphalangeal thumb, Nonopposable

description: A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.


Brisk reflexes

description: Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.


name: Increased level of hippuric acid in urine

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


Fetal hydrothorax

description: Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.


name: Focal-onset seizure evolving into bilateral convulsive status epilepticus

description: A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.


name: Decreased circulating lipoprotein lipase concentration

description: Reduction in the level of lipoprotein lipase in the blood.


Paradoxical respiration

description: Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.


Thyroid adenoma

description: The presence of a adenoma of the thyroid gland.


Abnormal hypnagogia

description: Abnormal transition of consciousness from wakefulness to sleep.


Sclerotic scapulae

description: Increased density of the bony tissue of the scapula.


name: Anti-asparaginyl-tRNA synthetase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.


name: Elevated circulating N-carbamoyl-beta-alanine concentration

description: An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.


Abnormal semicircular canal morphology

description: An abnormality of the morphology of the semicircular canal.


Wrist hypermobility

description: The ability of the wrist joints to move beyond their normal range of motion.


Bowman-space proteinaceous debris

description: The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.


Digital pitting scar

description: Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.


Negative affectivity

description: A tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states.


name: Bowing of limbs due to multiple fractures

description: Curvature of the shafts of the long bones due to multiple fractures.


Abnormal primary molar morphology

description: An abnormality of morphology of primary molar.


Osteosclerosis of the ulna

description: Osteosclerosis (increased density related to increased bone mass) of the ulna.


tinea profunda

description: A dermatophytosis that involves the deep dermal layers.


Impaired self monitoring

description: Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.


Colonic fibrinopurulent exudate

description: Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.


Cystic pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.


Increased hepatocellular lipid droplets

description: An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.


Decreased size of nerve terminals

description: A reduction in the size of nerve terminals.


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.


Palilalia

description: Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.


Bitemporal hollowing

description: Depression of profile in both temporal regions.


Prenatal flattened diaphragm

description: The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).


name: Anti-topoisomerase I antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.


Gaze avoidance

description: A deliberate avoidance of eye contact.


name: Increased circulating interleukin 4 concentration

description: An increased concentration of interleukin-4 in the blood circulation.


Abnormal eating behavior

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


Ductus venosus agenesis

description: A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Breast myxoma

description: A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.


Abnormal testis morphology

description: An anomaly of the testicle (the male gonad).


Increased urinary phosphoserine level

description: An increased level of phosphoserine in the urine.


Renal chloride wasting

description: High urine chloride in the presence of hypochloridemia.


arachnoid cyst

description: Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)


Pulmonary nodule

description: Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.


Dorsal hirsutism

description: Abnormally increased hair growth in the lskin of the back.


Abnormal pitch

description: Abnormally high or low-pitched vocalization or speech.


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

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


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


Synovial granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).


congenital absence of septum pellucidum

description: The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made.


Increased circulating cathepsin D level

description: An increase in concentration of cathepsin D in the blood circulation.


name: Abnormality of levator veli palatini muscle

description: An abnormality of a levator veli palatini.


name: Posterior fossa cyst at the fourth ventricle


name: Elevated circulating apolipoprotein A-IV concentration

description: An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.


Spermatogenesis maturation arrest

description: Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.


Mesangial matrix expansion

description: Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.


name: Spinal stenosis with reduced interpedicular distance

description: An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).


Positive stool Giardia antigen test

description: Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detect sintact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.


Urinary retention

description: Inability to completely empty the urinary bladder during the process of urination.


Abnormality of muscle size

description: Abnormalities of the overall muscle bulk based on clinical observation.


name: Abnormality of skeletal muscle fiber size

description: Any abnormality of the size of the skeletal muscle cell.


name: Abnormal periauricular region morphology


Comedonal acne

description: A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.


name: Elevated circulating growth hormone-releasing hormone concentration

description: Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.


prolapse of urethra

description: Prolapse of the urethral mucosa from the exterior urethral opening.


Sagittal craniosynostosis

description: A kind of craniosynostosis affecting the sagittal suture.


name: Congenital malformation of the great arteries

description: Defect or defects of the morphogenesis of the aorta and pulmonary arteries.


name: Anomalous insertion of papillary muscle directly into anterior mitral leaflet

description: A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.


Acephalic spermatozoa

description: Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.


Hypercapnia in cord blood

description: Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.


Abnormal nasal cartilage morphology

description: A morphological anomaly of the nasal cartilage.


Triangular epiphyses of the 5th finger

description: A triangular appearance of the epiphyses of the 5th finger of the hand.


Melena

description: The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.


name: Abnormal upper limb metaphysis morphology

description: An anomaly of one or more metaphyses of the arms.


tooth ankylosis

description: Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.


Buttock pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).


Cervical motion tenderness

description: Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.


Abnormal umbilicus morphology

description: An abnormality of the structure or appearance of the umbilicus.


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

description: Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.


name: Absence of stomach bubble on fetal sonography

description: By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.


name: Abnormal circulating interleukin 10 concentration

description: Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.


name: Anti-asialoglycoprotein receptor antibody positivity

description: Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.


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


Persistent left superior vena cava

description: A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.


Tongue neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue.


Hypohistidinemia

description: A decreased amount of histidine in the blood.


Self-neglect

description: Neglecting one's own needs and well-being.


Bulbous tooth

description: A tooth crown with a marked cervical area constriction.


name: Nodular-random pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.


name: Double inlet to single ventricle with common atrioventricular orifice


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.


Lower limb amyotrophy

description: Muscular atrophy affecting the lower limb.


Abnormality of the gingiva

description: Any abnormality of the gingiva (also known as gums).


name: Abnormal response to glucagon stimulation test

description: An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).


Recurrent joint dislocation

description: Dislocation of a given joint repeated times.


Scrotal pain

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


name: Curved proximal phalanx of the 2nd finger

description: Curved appearance of the proximal phalanx of the 2nd finger.


name: Reduced circulating 3-ketoacyl-CoA thiolase concentration

description: Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.


Postmenopausal bleeding

description: Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.


Abnormal postural reflex

description: Anomaly of the physiological response to maintain the body's posture when movement and position is altered.


acromial dimples

description: A subtype of skin dimples occurring in the shoulder region.


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


Reduced muscle fiber merosin

description: A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.


Night sweats

description: Occurrence of excessive sweating during sleep.


pulmonary subvalvular stenosis

description: The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies.


Decreased heart rate variability

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


name: Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts

description: Acitivity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.


Elevated urinary dihydrothymine level

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


Sclerosis of hand bone

description: Osteosclerosis affecting one or more bones of the hand.


Decreased level of erythritol in urine

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


Abnormal CSF serine concentration

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


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


Pseudoepiphyses of the 5th finger

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


Tubular microcystic change

description: Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.


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

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


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


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.


Tapered tooth

description: A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.


Aplasia/Hypoplasia of the 3rd finger

description: A small/hypoplastic or absent/aplastic 3rd (middle) finger.


oligohydramnios

description: A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm.


Type VI atherosclerotic lesion

description: Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.


name: Abnormal circulating threonine concentration

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


name: Increased extraneuronal autofluorescent lipopigment

description: Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.


Night gasping

description: Waking up at night gasping for breath.


Freezing of gait

description: Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.


Decreased CSF glutamate concentration

description: Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


name: EEG with generalized epileptiform discharges

description: EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.


Long uvula

description: Increased length of the uvula.


name: Elevated circulating medium-chain acylcarnitine concentration

description: Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),


Limitation of movement at ankles

description: An abnormal limitation of the mobility of the ankle joint.


description: Absence or underdevelopment of the nasopharyngeal adenoids.


name: Decreased platelet glycoprotein IIb-IIIa

description: Decreased cell membrane concentration of glycoprotein IIb-IIIa.


Abnormal arcuate artery morphology

description: Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.


Thin ear helix

description: Decreased thickness of the helix of the ear.


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

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


name: Dysplastic distal thumb phalanges with a central hole


Tessier number 9 facial cleft

description: This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.


name: Focal aware sensory seizure with olfactory features

description: Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.


Renal medullary hyperechogenicity

description: Increased echogenecity of the medullary region of the kidney.


Acute demyelinating polyneuropathy

description: Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.


name: Abnormal glomerular visceral epithelial cell morphology

description: Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.


Increased CSF threonine concentration

description: Abnormally increased levels of threonine in cerebrospinal fluid.


Fractured shoulder bone

description: A partial or complete breakage of a shoulder bone.


name: Recurrent mycobacterium avium complex infections

description: Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.


name: Abnormal circulating nucleobase concentration

description: An abnormality of a nucleobase metabolic process.


name: Decreased lecithin cholesterol acyl transferase level

description: Reduced level of the enzyme lecithin cholesterol acyl transferase.


Abnormal urinary odor

description: A deviation from the normal odor of the urine.


name: Periosteal new bone of humeral diaphysis


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.


Coat hanger sign of ribs

description: An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).


Singsong Intonation

description: A speech pattern characterized by abnormal fluctuations in the pitch of the voice.


Abnormal sex determination

description: Anomaly of primary or secondary sexual development or characteristics.


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.


Carcinoid tumor of the pancreas

description: A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).


name: Enlargement of the distal femoral epiphysis

description: An abnormal enlargement of the distal epiphysis of the femur.


split hand-foot malformation

description: Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.


Decreased HDL3b concentration

description: A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Temperature instability

description: Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.


Short distal phalanx of the 2nd toe

description: Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.


name: Loss of Purkinje cells in the cerebellar vermis


Abnormal cerebral artery morphology

description: Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.


Heavy-chain paraproteinemia

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


name: Abnormal circulating branched chain amino acid concentration

description: Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.


description: Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.


3-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Abnormal elasticity of skin

description: Any abnormal increase or reduction in skin elasticity.


name: Reduced epidermal keratin 10 protein expression

description: Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


diffuse alveolar hemorrhage

description: A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.


name: Reduced epidermal keratin 5 protein expression

description: Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


Diffuse breast nodularity

description: Breast tissue with a lumpy or ropelike texture.


Fractured head of femur

description: A partial or complete breakage of the head of femur.


megalodactyly

description: A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances.


Cranial hyperostosis

description: Excessive growth of the bones of cranium, i.e., of the skull.


Dialeptic seizure

description: A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.


name: Abnormality of digestive system physiology

description: A functional anomaly of the digestive system.


Rimmed vacuoles

description: Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.


nose, anomalous shape of

description: Increased volume and globular shape of the anteroinferior aspect of the nose.


name: Arcuate artery endoarterial lymphocyte hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.


name: Elevated circulating 3-hydroxypalmitoleylcarnitine concentration

description: Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.


Abnormal chromosome morphology

description: Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.


name: Autonomic-voluntary dissociation of facial movements

description: The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).


Delayed Echolalia

description: Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Abnormality of intracranial pressure

description: A deviation from the norm of the intracranial pressure.


Anti-Gephyrin antibody

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


Postnatal macrocephaly

description: The postnatal development of an abnormally large skull (macrocephaly).


name: Fractured epiphysis of second metacarpal bone

description: A partial or complete breakage of the epiphysis of second metacarpal bone.


Bent long bone

description: A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the metaphysis (shaft) of the bone.


Positive CMV urine nucleic acid test

description: Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.


name: Interlobular vein intima/media coagulative necrosis

description: A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.


Femoral aplasia

description: Failure of the femur to develop.


name: Abnormal lower-limb motor evoked potentials

description: An anomaly identified by motor evoked potentials (MEPs) in the leg.


name: Abnormal circulating lysine concentration

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


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

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.


Congenital pyloric atresia

description: Congenital atresia of the pylorus.


Chronic decreased circulating IgG1

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


Venom-induced anaphylaxis

description: A form of anaphylaxis that is triggered by exposure to venom.


Glomerular endotheliosis

description: Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.


name: Abnormality thigh musculature morphology


Subepidermal blistering

description: A type of blistering in which the lesions are located beneath the epidermis.


pituicytoma

description: An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.


name: Fractured distal phalanx of manual digit 4

description: A partial or complete breakage of the distal phalanx of manual digit 4.


Abnormal nipple morphology

description: An abnormality of the nipple.


Thick spermatozoon midpiece insertion

description: Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.


name: Increased circulating beta-C-terminal telopeptide concentration

description: A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.


Dorsocervical fat pad

description: An area of fat accumulation at the back of the neck in the form of a hump.


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


Anti-GD1a antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.


name: Complete duplication of the phalanges of the 5th finger

description: A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


Incomplete right bundle branch block

description: Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.


sweat gland disorder

description: A disease involving the sweat gland.


Trapezius muscle aplasia

description: A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).


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

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


name: Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Hydrocele testis

description: Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.


name: Abnormal cortical radial artery intima/media morphology

description: Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.


name: Aplasia/Hypoplasia of the pyramidal tract


Luse bodies

description: Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.


Pseudo-chilblain

description: Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.


Barking cough

description: A cough with a characteristic sound that has been compared to a seal's bark.


Increased circulating IgA level

description: An abnormally increased level of immunoglobulin A in blood.


Glomerular fibrinoid necrosis

description: Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.


name: Increased circulating pancreatic triacylglycerol lipase level

description: An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).


Dilated fourth ventricle

description: An abnormal dilatation of the fourth cerebral ventricle.


name: Abnormal phytanic acid:pristanic acid ratio

description: Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


U wave inversion

description: Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.


preaxial hallucal polydactyly

description: Duplication of all or part of the first ray.


Translamellar aortic medial fibrosis

description: A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.


Comedo

description: A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).


name: Hemosiderin-laden macrophages in bronchoalveolar fluid

description: Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).


name: Disproportionate short-trunk short stature

description: A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.


Glomerular C3 deposition

description: The presence of complement 3 deposits in the glomerulus.


Absent pubertal growth spurt

description: The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.


Abnormal bowel sounds

description: An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.


Depressed nasal ridge

description: Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.


name: Increased serine family amino acid in urine

description: An increased level of a serine family amino acid in the urine.


Abnormal circulating IgE level

description: An abnormal deviation from normal levels of IgE immunoglobulin in blood.


Fetal bowel dilatation

description: Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.


name: Pallor of dorsal columns of the spinal cord

description: An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.


Cutaneous finger syndactyly

description: A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.


name: Reduced hepatic glucose-6-phosphate translocase activity

description: Activity of glucose-6-phosphate translocase in liver below the lower limit of normal.


Decreased male libido

description: Reduced desire for sexual activity on the part of a male.


Type I atherosclerotic lesion

description: Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).


Abnormal pancreatic acinus morphology

description: Structural anomal of pancreatic acinus.


name: Decreased circulating beta-2-microglobulin level

description: Reduced concentration of beta-2-microglobulin in the blood.


Abnormal alveolar volume

description: Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath manouver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.


Short phalanx of the 2nd toe

description: Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.


Tufted hairs

description: The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.


name: Abnormal circulating homocysteine concentration

description: An abnormality of a homocysteine metabolic process.


perinephritis

description: Inflammation of the connective and adipose tissues surrounding the kidney.


name: Saccular descending thoracic aortic aneurysm

description: An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall


Renal tubular viral cytopathic changes

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.


name: Effort-induced polymorphic ventricular tachycardia

description: Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.


name: Elevated CSF argininosuccinic acid concentration

description: Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.


Abnormal breast physiology

description: Any anomaly of the function of the breast.


name: Increased glutamine family amino acid level in urine

description: An elevated level of an glutamine family amino acid in the urine.


Limited elbow extension

description: Limited ability to straighten the arm at the elbow joint.


Chronic decreased circulating total IgG

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


Posiitive mycobacterium CSF culture

description: Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF).


name: Metacarpophalangeal thumb joint contracture

description: Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.


Metaphyseal dappling

description: The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.


name: Abnormal posterior semicircular canal morphology


Inspiratory crackles

description: Crackles that are heard during the inspiratory phase.


Finger joint contracture

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


Decreased CSF alanine concentration

description: Abnormally decreased levels of alanine in cerebrospinal fluid.


name: Enlarged epiphysis of the proximal phalanx of the thumb

description: Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


pseudohypoaldosteronism

description: An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate.


Late chronotype

description: A tendency towards waking up very late in the morning and staying up late at night.


Narrow naris

description: Slender, slit-like aperture of the nostril.


Thunderclap headache

description: Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.


Tibial spur

description: A bony projection (spur, osteophyte) originating from the tibia.


Plant based food allergy

description: Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


EEG with central sharp slow waves

description: EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.


name: Abnormal spatial orientation of the cardiac segments

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


name: Elevated urinary N-methylhistamine level

description: The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal.


Spinal cord xanthomatosis

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


Mucoid diarrhea

description: Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.


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.


Abnormality of mouth shape

description: An abnormality of the outline, configuration, or contour of the mouth.


Urinary bladder mass

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


name: Elevated CSF apolipoprotein B concentration

description: The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Spondylolisthesis at L5-S1

description: Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).


Increased RIPA

description: Increased platelet agglutination in response to low-dose ristocetin


Decreased calvarial ossification

description: Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).


Stiff elbow

description: A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.


Abnormal epididymis morphology

description: An abnormality of the epididymis.


Fractured humerus

description: A partial or complete breakage of the humerus.


Epsilon wave

description: An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


Enlarged epiphyses of the 3rd finger

description: Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.


Delayed passage of meconium

description: Failure to pass meconium (the first stool following birth) in the first 48 hours of life.


name: Abnormal morphology of the musculature of the neck

description: An abnormality of the neck musculature.


Erythematous plaque

description: A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.


Partial abdominal muscle agenesis

description: Failure to form of portions of the abdominal musculature.


Elevated blood cadmiun concentration

description: The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


Abnormal hyoglossus muscle morphology

description: An abnormality of a hyoglossus muscle.


name: Elevated blood ethylene glycol concentration

description: The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects.


Impacted tooth

description: A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).


4-5 toe syndactyly

description: Syndactyly with fusion of toes four and five.


Right-to-left shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.


Sex reversal

description: Development of the reproductive system is inconsistent with the chromosomal sex.


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


Abnormal ureter morphology

description: A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Aplasia/Hypoplasia of the uvula

description: Underdevelopment or absence of the uvula.


Diplomyelia

description: Duplication of the spinal cord.


name: Aplasia/Hypoplasia of the cervical spine

description: Aplasia or developmental hypoplasia of the cervical vertebral column.


Anti-Yo antibody positivity

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


name: Abnormality of the proximal tibial epiphysis

description: Any abnormality of the proximal epiphysis of the tibia.


Fetal pleural effusion

description: Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.


name: Intraluminal thrombi within interlobular veins

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.


Intrapulmonary shunt

description: Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.


Decreased stool elastase level

description: Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.


name: Focal impaired awareness cognitive seizure with hallucination

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


diphallia

description: Two penile structures, separated from the tip to the base of the shaft.


Abnormal genital pigmentation

description: An abnormal pigmentation pattern of the external genitalia.


Abnormal urine citrate concentration

description: A deviation from normal of the concentration of citrate(3-) in the urine.


Small joint hypermobilty

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


Fractured bone of jaw

description: A partial or complete breakage of the bone of jaw.


Synovial cyst

description: A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.


name: Aplasia/Hypoplasia of the 1st metacarpal

description: Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).


name: Osteolytic defect of the proximal toe phalanx

description: Dissolution or degeneration of bone tissue of the proximal toe phalanx.


1-3 finger syndactyly

description: Syndactyly with fusion of fingers one to three.


Recurrent cutaneous abscess formation

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


Skewfoot

description: A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.


name: EEG with frontal epileptiform discharges

description: Focal epileptiform EEG discharges recorded in the frontal region.


name: Abnormality of the epiphyses of the hallux


Intratubular dihydroxyadenuria crystals

description: Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.


Vesicular eruption

description: A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.


name: Positive bloodstream infectious agent antigen test

description: A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent.


Deep philtrum

description: Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.


Radioulnar dislocation

description: A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.


name: Fragmentation of the epiphyses of the 2nd finger

description: Fragmented appearance of the epiphyses of the 2nd finger.


Anti-Mi2 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.


Fibrous crescent

description: A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.


Abnormal play

description: An abnormality in a child's ability play.


Elbow contracture

description: A limitation in the passive range of motion of the elbow 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.


anterograde amnesia

description: Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71)


Bloody bronchoalveolar lavage fluid

description: Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.


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


name: Abnormality of the temporomandibular joint

description: An anomaly of the temporomandibular joint.


name: Interlobular vein intima/media venulitis

description: Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.


Thin bony cortex

description: Abnormal thinning of the cortical region of bones.


Abnormal neck morphology

description: Any structural anomaly of the neck region.


Positive hydrogen breath test

description: Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.


Dystrophic toenail

description: Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.


Focal cortical dysplasia type IIIa

description: A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).


Mesoaxial hand polydactyly

description: The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.


name: Elevated urine 2-trans,4-cis-decadienoylcarnitine level

description: The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.


Excessive eructation

description: Abnormally frequent belching (expelling gas noisily from the stomach through the mouth).


Abnormal ganglion morphology

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


name: platelet-activating factor acetylhydrolase deficiency

description: Reduced level of platelet-activating factor acetylhydrolase.


Increased serum pyruvate

description: An increased concentration of pyruvate in the blood.


Megacystis

description: Dilatation of the bladder postnatally.


Increased pulmonary vascular resistance

description: Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.


Coprolalia

description: Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.


Urinary bladder hamartoma

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


Increased femoral anteversion

description: An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.


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.


Abnormal rituals

description: Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Vocal tremor

description: A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.


situs inversus

description: A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning).


name: Facial expressions not directed to others


Abnormal blood gas level

description: An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.


Extremely preterm birth

description: Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).


Abnormality of the falx cerebri

description: An abnormality of the Falx cerebri.


name: Generalized hypotonia due to defect at the neuromuscular junction


name: Abnormality of mucopolysaccharide metabolism

description: An abnormality of the metabolism of mucopolysaccharide.


Malaligned carpal bone

description: Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).


Gonadotropin deficiency

description: A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).


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.


Fractures of the long bones

description: An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).


Abnormal HDL subfraction concentration

description: An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).


Irregular carpal bones

description: Carpal bones with irregular or fragmented margins.


placental abruption

description: Vaginal bleeding preceding the 20th week of gestation.


Abnormal digestive system morphology

description: A structural anomaly of the digestive system.


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


Breast granuloma

description: Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells.


Time agnosia

description: The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.


Foot asymmetry

description: A difference in size or shape between the left and right foot.


Hypoplasia of the gallbladder

description: The presence of a hypoplastic gallbladder.


name: Muscle fiber intracytoplasmic reducing inclusion bodies

description: Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.


name: Decreased proportion of transitional B cells

description: A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.


Addictive methamphetamine use

description: Addiction to methamphetamine.


name: Elevated circulating myoglobin concentration

description: An increased blood concentration of myoglobin.


name: Abnormality of the proximal humeral epiphysis

description: Any abnormality of the proximal epiphysis of the humerus.


Hyperdense pulmonary mass

description: A type of pulmonary mass with high attenuation.


Absent thoracic vertebra

description: A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.


name: Elevated vascular endothelial growth factor level

description: Increased blood concentration of vascular endothelial growth factor (VEGF).


Short fifth metatarsal

description: Short (hypoplastic) fifth metatarsal bone.


Hyperamylasemia

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


name: Decreased circulating calcitonin concentration

description: Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.


name: Absent epiphyses of the middle phalanges of the hand


name: Elevated muscle fiber laminin alpha 5 expression

description: A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.


Separation insecurity

description: Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.


Micromelia

description: The presence of abnormally small extremities.


Advanced ossification of carpal bones

description: Ossification of carpal bones at an abnormally early age.


name: Uni- and bilateral multifocal epileptiform discharges

description: Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.


patent urachus

description: Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.


Wide nasal ridge

description: Increased width of the nasal ridge.


Dental enamel pits

description: The presence of small depressions in the dental enamel.


name: Aplasia/Hypoplasia of the proximal phalanx of the hallux


Bracket epiphyses of the thumb

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


Elevated urine kynurenine level

description: An abnormally increased amount of kynurenine in the urine.


Excessive daytime somnolence

description: A state of abnormally strong desire for sleep during the daytime.


Interrupted aortic arch type C

description: Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


Wrist drop

description: A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.


Leydig cell hypoplasia

description: A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.


name: Decreased circulating complement C8 concentration

description: Concentration of the complement component C8 in the blood circulation below the lower limit of normal.