Abnormal larynx morphology

description: Any anomaly of the structure of the larynx.


Aplasia of the 2nd metacarpal

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

description: Absence of the second long bone of the hand.


name: Increased circulating hypoxanthine concentration

description: Elevated concentration of hypoxanthine in the blood circulation.


name: Hypermobility of distal interphalangeal joints


Focal vocal automatism seizure

description: A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


Abnormal joint morphology

description: An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.


Abnormal cerebral ventricle morphology

description: Any structural abnormality of the cerebral ventricles.


name: Glomerular capillary wall duplication without cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


Long fingers

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


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

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


name: Increased anti-plant product IgE antibody level

description: Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.


Lower cranial nerve dysfunction

description: A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.


Transient hyperphenylalaninemia

description: A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).


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

description: Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.


name: Increased circulating insulin-like growth factor 1 concentration

description: An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.


name: Elevated circulating o-phosphoserine concentration

description: An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.


name: Increased urinary 11-deoxycortisol level

description: An abnormally elevated concentration of 11-deoxycortisol in the urine.


agammaglobulinemia

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

description: A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.


name: Absent left sided atrioventricular connection

description: A defect where there is no connection between the left atrium and left ventricle.


Fractured metatarsal bone of digit 5

description: A partial or complete breakage of the metatarsal bone of digit 5.


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.


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.


name: Increased circulating copper concentration

description: An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.


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.


cervical vertebrae, agenesis of

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.


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.


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.


Geophagia

description: The practice of eating earth or soil-like substrates such as clay or chalk.


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


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: 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.


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


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.


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

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


Decreased circulating total IgM

description: An abnormally decreased level of immunoglobulin M (IgM) in blood.


Macronodular adrenal hyperplasia

description: Adrenal hyperfunction associated with multiple bilateral adrenal nodules, usually more than one centimeter in diameter.


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.


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.


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.


Proximal amyotrophy

description: Amyotrophy (muscular atrophy) affecting the proximal musculature.


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.


Hypothalamic atrophy

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


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.


Gastrointestinal telangiectasia

description: Telangiectasia affecting the gastrointestinal tract.


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.


Orthokeratotic hyperkeratosis

description: A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.


Humoral immunodeficiency

description: A general term referring to a defect in immunity resulting from impaired antibody production.


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.


name: Abnormal morphology of the vestibule of the inner ear

description: A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.


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.


thymus neoplasm

description: A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.


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.


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.


Hypomethioninemia

description: A decreased concentration of methionine in the blood.


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.


Testicular fibrosis

description: Formation of excess connective tissue in the testicle.


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

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


distal renal tubular acidosis

description: Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.


Abnormal semicircular canal morphology

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


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.


chondroma

description: A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes.


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.


Disseminated histoplasmosis

description: Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.


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.


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.


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)


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


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.


name: Abnormality of levator veli palatini muscle

description: An abnormality of a levator veli palatini.


focal segmental glomerulosclerosis 1

description: Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.


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).


Abnormality of muscle size

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


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.


nervous system cancer

description: A primary or metastatic malignant neoplasm involving the nervous system.


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.


Gastrointestinal angiodysplasia

description: Dysplasia affecting the vasculature of the gastrointestinal tract.


Triangular epiphyses of the 5th finger

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


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.


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: 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.


name: Curved proximal phalanx of the 2nd finger

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


Abnormal postural reflex

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


craniofacial dystonia

description: A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck.


Hyperlysinuria

description: An increased concentration of lysine in the urine.


acromial dimples

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


Abnormal aortic valve morphology

description: Any abnormality of the aortic valve.


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.


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.


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.


Generalized edema

description: Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.


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.


Vestibular hypofunction

description: A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance


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


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.


Calvarial skull defect

description: A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.


name: Periosteal new bone of humeral diaphysis


Abnormal right atrium morphology

description: Any structural abnormality of the right atrium.


cerebral palsy

description: A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.


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.


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.


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.


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.


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.


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.


Generalized non-motor (absence) seizure

description: A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.


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.


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


Abnormality of the face

description: An abnormality of the face.


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.


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.


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.


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.


Pelizeaus-Merzbacher spectrum disorder

description: An X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.


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.


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.


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.


Pancreatic dysplasia

description: The presence of developmental dysplasia of the pancreas.


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.


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.


Cerebellar edema

description: Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.


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.


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.


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.


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.


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.


Abnormal hyoglossus muscle morphology

description: An abnormality of a hyoglossus muscle.


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.


Angiofibromas

description: Angiofibroma consist of many often dilated vessels.


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.


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.


Fractured bone of jaw

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


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.


scurvy

description: A condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur.


Deep philtrum

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


malignant endocrine neoplasm

description: A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.


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.


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.


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.


Abnormal ganglion morphology

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


name: Bilateral sensorineural hearing impairment

description: A bilateral form of sensorineural hearing impairment.


Increased serum pyruvate

description: An increased concentration of pyruvate in the blood.


Megacystis

description: Dilatation of the bladder postnatally.


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.


Brain fog

description: Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is "cloudy". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.


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


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


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).


epidermolytic ichthyosis

description: A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.


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.


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: 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.


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


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.


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.


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.


Astrocytosis

description: Proliferation of astrocytes in the area of a lesion of the central nervous system.


name: Abnormal gastrointestinal tract morphology

description: Abnormal structure of the gastrointestinal tract.


limb-girdle muscular dystrophy

description: Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


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.


Truncus arteriosus

description: A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.


Reticular pattern on pulmonary HRCT

description: On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.


Squawks

description: Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.


name: Fractured distal epiphysis of distal phalanx of manual digit 1

description: A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.


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

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


name: Partial duplication of the distal phalanges of the hand

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


name: Arteriovenous malformation of the maxilla

description: An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.


Decreased circulating IgG3 level

description: A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.


Axillary epidermoid cyst

description: An epidermoid cyst in the armpit.


name: Abnormal metacarpal epiphysis morphology


Esophageal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.


name: Elevated circulating proinsulin concentration

description: The concentration of proinsulin in the blood circulation is above the upper limit of normal.


Impaired distal proprioception

description: A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints.


Hemiatrophy of lower limb

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


name: Glomerular endocapillary leukocyte hypercellularity

description: Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.


Morgagni diaphragmatic hernia

description: An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.


Abnormal cardiac atrial physiology

description: An abnormality of the function of the cardiac atria.