Distributive shock

description: A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage


Knee extension contracture

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

description: A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.


Abnormality of skin physiology

description: Any abnormality of the physiological function of the skin.


Large intestinal polyposis

description: The presence of multiple polyps in the large intestine.


Compression-fractured lumbar vertebra

description: A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.


Abnormal hallux morphology

description: This term applies for all abnormalities of the big toe, also called hallux.


Displaced lobar tracheal bronchus

description: Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.


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

description: Partial or complete duplication of the middle phalanx of ring finger.


Reduced bifunctional protein activity

description: Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.


Abnormal number of teeth

description: The presence of an altered number of of teeth.


Tendon pain

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


Abnormal drinking behavior

description: Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.


Anti-annexin A5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.


name: Increased circulating lactate dehydrogenase concentration

description: An elevated level of the enzyme lactate dehydrogenase in the blood circulation.


name: Abnormal nasopharyngeal adenoid morphology

description: Any abnormality of nasopharyngeal adenoids.


name: Partial duplication of the middle phalanx of the 5th finger

description: Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.


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


Abnormality of iron homeostasis

description: An abnormality of the homeostasis (concentration) of iron cation.


Ventricular preexcitation

description: An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.


name: Internally nucleated skeletal muscle fibers

description: An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.


name: Duplication of the phalanges of the 5th toe

description: Partial or complete duplication of one or more phalanx of little toe.


name: Partial duplication of the 1st metatarsal

description: A developmental defect consisting in the duplication of part of the first metatarsal bone.


name: Bracket epiphyses of the proximal phalanges of the hand

description: An abnormality of the proximal phalanges of the hand 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.


name: Chronic rhinitis due to narrow nasal airway


Thalamic hemorrhage

description: Bleeding in the thalamus.


mutism

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

description: The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis.


name: Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT

description: A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.


name: Abnormal proportion of marginal zone B cells

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


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

description: Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.


Anti-GM1 IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.


Periorbital fullness

description: Increase in periorbital soft tissue.


name: Decreased circulating vitamin B5 concentration

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


Increased urinary copper concentration

description: An increased concentration of copper in the urine.


name: Amyotrophy involving the shoulder musculature


name: Dextrotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.


Clubbing of toes

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


Breast aplasia

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


factor V deficiency

description: A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood.


name: Fractured epiphysis of second metatarsal bone

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


Absence of epidermal lamellar bodies

description: Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.


Abnormal cerebral cortex morphology

description: Any structural abnormality of the cerebral cortex.


name: Anti-beta-2-Glycoprotein I IgG antibody positivity

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


Peripheral dysmyelination

description: Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.


Anti-desmoplakin I antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.


Darwin notch of helix

description: Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.


name: Abnormal muscle fiber dystrophin expression

description: A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.


Silver-gray hair

description: Hypopigmented hair that appears silver-gray.


name: Abnormal circulating sex hormone concentration

description: Any deviation from the normal concentration of a sex hormone in the blood circulation


name: Irregular epiphyses of the distal phalanges of the hand


High serum calcifediol

description: An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.


Microform bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


name: Decreased CSF phenylalanine concentration

description: Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


Vertebral hyperostosis

description: Excessive growth of the bones of the vertebral bodies.


Lipid-laden lymph node macrophages

description: Lymph node with increased numbers of macrophages heavily laden with lipids.


Large posterior fontanelle

description: An enlargement of the posterior fontanelle relative to age-dependent norms.


Intraventricular arachnoid cyst

description: An arachnoid cyst located within the ventricular system.


Cervical hypoplasia

description: Underdevelopment of the uterine cervix.


Curved proximal phalanx of the hallux

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


name: Decreased circulating complement factor B concentration

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


Decreased intestinal transit time

description: A reduction in the length of time required for food to pass through the intestines.


Upper limb amyotrophy

description: Muscular atrophy involving the muscles of the upper limbs.


name: Patent ductus arteriosus after birth at term

description: Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.


name: Decreased circulating creatine kinase concentration

description: A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.


acalvaria

description: Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal.


Cervical aortic arch

description: The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.


Increased CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Impaired nasal mucociliary clearance

description: An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.


Notched P wave

description: V-shaped cut (notch) in the middle of the P wave.


Bifid nail

description: A digit with two nails, with at least some soft tissue between them.


name: Anti-angiotensin-converting enzyme 2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.


Ectopic thymus tissue

description: The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.


Congenital facial diplegia

description: Facial diplegia (that is, bilateral facial palsy) with congenital onset.


Persistent cloaca

description: Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.


Synotia

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


Progressive distal muscular atrophy

description: Progressive muscular atrophy affecting muscles in the distal portions of the extremities.


Differential cyanosis

description: Differential degree of bluish discoloration between the upper and lower extremities.


Increased urinary 1-methylhistidine

description: Increased concentration of 1-methylhistidine in the urine.


Recurrent coughing spasms

description: Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.


Dysgenesis of the hypothalamus

description: Structural abnormality of the hypothalamus related to defective development.


EEG with occipital focal spike waves

description: EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.


Anti-factor X antibody positivity

description: The presence of an antibody in the blood circulation that is directed against factor X.


name: Abnormal phosphoribosylpyrophosphate synthetase level

description: Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.


Hypoplasia of proximal radius

description: Proximal radial shortening owing to a congenital defect of development.


Abnormal endometrium morphology

description: An anomaly of the inner mucous membrane of the uterus.


name: Increased sensitivity to ionizing radiation

description: An abnormally increased sensitivity to the effects of ionizing radiation.


name: Anomalous branches of internal carotid artery


Abnormality of the upper urinary tract

description: An abnormality of the upper urinary tract.


Maternal fever in pregnancy

description: The occurence of an elevated body temperature of the mother during pregnancy.


Increased spinal bone density

description: Increased bone density affecting the bones of the spine (vertebral column).


Descending aorta hypoplasia

description: Significant luminal narrowing of a long segment of the descending aorta.


Low femoral bone density

description: Reduced bone mineral density of the femur.


name: EMG: impaired neuromuscular transmission

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


name: Complete duplication of the phalanges of the 2nd toe

description: Complete duplication of a phalanx of second toe.


Increased circulating IgD level

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


Dysplastic pulmonary valve

description: A congenital malformation of the pulmonary valve characterized by leaflet deformation.


3-5 finger syndactyly

description: Syndactyly with fusion of fingers three to five.


Global cerebellar dysplasia

description: A type of cerebellar dysplasia that affects the entire cerebellum.


name: Anti-thyroid-stimulating hormone receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.


Shoulder girdle muscle atrophy

description: Amyotrophy affecting the muscles of the shoulder girdle.


name: Abnormality of the musculature of the upper limbs


Anterior bowing of long bones

description: An abnormal anterior curvature of a long bone.


Abnormality of chromosome stability

description: A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.


Seminal vesicle cyst

description: A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


Calf muscle hypoplasia

description: Underdevelopment of the muscuklature of the calf.


name: Bullet-shaped distal phalanx of the 2nd 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 2nd finger is affected.


Aplasia of the olfactory tract

description: Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.


testicular gonadoblastoma

description: A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.


vesicoureteral reflux

description: Abnormal flow of urine from the urinary bladder back into the ureters.


ureter neoplasm

description: A benign or malignant neoplasm that affects the ureter.


name: Arcuate artery endoarterial neutrophil hypercellularity

description: A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.


Emotional hypersensitivity

description: Heightened emotional reactivity to environmental stimuli, including the emotions of others.


name: Positive human Immunodeficiency virus nucleic acid test in the blood circulation

description: Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR).


name: Decreased tissue succinic semialdehyde dehydrogenase activity

description: Reduced level of succinic semialdehyde dehydrogenase (SSADH).


Insect bite allergy

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


Uterine cervix myxoma

description: A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.


Elevated urinary dihydrouracil level

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


Decreased salivary cortisol level

description: Abnormally reduced concentration of cortisol in saliva.


name: Anti-phospholipase A2 receptor antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.


Oral cavity bleeding

description: Recurrent or excessive bleeding from the mouth.


name: Elevated circulating thymine concentration

description: Concentration of the nucleobase thymine in the blood circulation above the normal range.


name: Increased proportion of transitional B cells

description: An elevation 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.


Distal clavicular thinning

description: Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.


Focal aware hemifacial clonic seizure

description: Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.


name: Polymorphic focal epileptiform discharges

description: Focal epileptiform discharges of different shapes and frequencies.


Precordial pain

description: A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.


name: Increased level of hippuric acid in blood

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


Deep longitudinal plantar crease

description: Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.


Abnormal vertebral artery morphology

description: An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.


Onychotillomania

description: Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.


Antimitochondrial antibody positivity

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


Dumbbell-shaped humerus

description: The humerus is shortened and displays flaring (widening) of the metaphyses.


stutter disorder

description: A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age.


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

description: Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.


name: Aplasia/Hypoplasia of the 2nd metacarpal

description: Aplasia or Hypoplasia affecting the 2nd metacarpal.


Rigidity

description: Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.


name: Abnormal circulating apolipoprotein concentration

description: A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.


name: Reticulonodular pattern on pulmonary HRCT

description: Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.


Anti-NMDA receptor antibody positivity

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


Pericardial friction rub

description: A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.


Abnormal renal medulla morphology

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


name: Functional abnormality of male internal genitalia


Recurrent parasitic infections

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


Decreased CSF/serum albumin ratio

description: A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.


Struvite nephrolithiasis

description: Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).


Elevated urine aconitic acid level

description: An abnormally increased level of aconitic acid in the urine.


Thick hair

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


description: Increased proportion of gamma-delta T cells relative to the total number of T cells.


Midline liver

description: Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.


name: Abnormal CSF phenylalanine concentration

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


Hyperorality

description: Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.


Increased CSF glutamine concentration

description: Abnormally increased levels of glutamine in cerebrospinal fluid.


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


Anti-MAP1B antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).


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


Abnormal vocal cord morphology

description: An abnormality of the vocal cord.


Abnormal carotid artery morphology

description: Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.


Short middle phalanx of the 5th toe

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


name: Ivory epiphyses of the phalanges of the hand

description: Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


name: Stippling of the epiphysis of the 1st metatarsal


name: Osteolysis involving bones of the lower limbs


Toe extensor amyotrophy

description: Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.


Strawberry tongue

description: Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.


Tryptophanuria

description: An increased concentration of tryptophan in the urine.


Cobblestone-like hyperkeratosis

description: The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.


Decreased CSF threonine concentration

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


Abnormal cervical curvature

description: The presence of an abnormal curvature of the cervical vertebral column.


Oculogyric crisis

description: An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.


Moderate hearing impairment

description: The presence of a moderate form of hearing impairment.


Invasive parasitic infection

description: A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.


popliteal cyst

description: A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint.


Anti-envoplakin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


proximal spinal muscular atrophy

description: Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.


Abnormal proportion of naive T cells

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


Hepatojugular reflux

description: The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.


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

description: A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.


Abnormal aortic valve cusp morphology

description: Any structural anomaly of the aortic valve leaflets.


name: Elevated circulating glutaric acid concentration

description: An increased concentration of glutaric acid in the blood.


name: Elevated circulating calprotectin concentration

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


Hypoplasia of the vagina

description: Developmental hypoplasia of the vagina.


Increased level of L-fucose in urine

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


name: Abnormality of the distal tibial epiphysis


name: Abnormal medullary peritubular capillary morphology

description: Anomalous structure of the peritubular capillaries located in the medulla of the kidney.


Ambiguous genitalia, male

description: Ambiguous genitalia in an individual with XY genetic gender.


name: Right aortic arch with mirror image branching

description: The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Abnormal dentin morphology

description: Any abnormality of dentin.


name: Partial duplication of the distal phalanx of the 2nd toe

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


Horizontal crus of helix

description: An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.


name: Pseudoepiphysis of the proximal phalanx of the thumb

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


Pelvic kidney

description: A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.


Abnormal ethmoid bone morphology

description: An abnormality of the ethmoid bone


Fractured proximal phalanx of digit 4

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


Hot flashes

description: Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.


Anal stenosis

description: Abnormal narrowing of the anal opening.


Neonatal multifocal clonic seizure

description: Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.


Trigeminal anesthesia

description: Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.


name: Anti-histidyl tRNA synthetase antibody positivity

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


Hyperextensibility of the knee

description: The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).


Subaortic ventricular septal bulge

description: A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.


Reduced CSF creatine concentration

description: The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Snout reflex

description: A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.


Increased circulating ACTH level

description: An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.


Anterior neck swelling

description: Abormal enlargement of the front part of the neck owing to accumulation of fluid.


Hypoplasia of the pharynx

description: Underdevelopment of the pharynx.


Clinodactyly of the 5th toe

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


Foamy urine

description: Urine has an increased amount of frothy fine bubbles.


Anti-schistosoma antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma.


hemifacial hypertrophy

description: Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.


Abnormality of amino acid metabolism

description: Abnormality of an amino acid metabolic process.


Lower limb phocomelia

description: Phocomelia affecting only the lower limbs.


Mesomelic leg shortening

description: Shortening of the middle parts of the leg in relation to the upper and terminal segments.


Abnormal brain-evoked potentials

description: Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.


Osteochondromyxoma

description: A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.


Agenesis of pineal gland

description: Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.


name: Bullet-shaped proximal phalanx of the 2nd toe

description: An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


name: Decreased circulating thyroxine-binding globulin concentration

description: A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.


name: Abnormal circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.


Reduced cerebral white matter volume

description: An abnormally low volume of the white matter of the brain.


Elevated left atrial pressure

description: An abnormal increase in magnitude of the pressure in the left atrium.


Anti-endomysial antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).


Thickened nuchal skin fold

description: A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.


Monoclonal elevation of IgG light chain

description: A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.


1-5 finger syndactyly

description: Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand).


Ragged-red muscle fibers

description: An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.


Monocarboxylic aciduria

description: Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.


Purulent parotid gland drainage

description: Excretion of pus (purulent discharge) from the opening of the parotid duct.


Disturbance of facial expression

description: An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.


name: Elevated circulating tetradecanoylcarnitine concentration

description: Elevated circulating tetradecanoyl concentration.


Periarticular calcification

description: Calcified deposits in soft tissue structures outside a joint.


name: Complete heart block with narrow QRS complexes

description: A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.


Spindle-shaped finger

description: Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).


Generalized hypoplasia of dental enamel

description: A generalized form of developmental hypoplasia of the dental enamel.


name: Abnormal circulating vitamin E concentration

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


name: Elevated urine 2-hydroxy-3-methylvaleric acid level

description: Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.


Malalignment of the great toenail

description: A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.


Visceral epithelial cell detachment

description: Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.


Fusion of the caudate and putamen

description: Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.


name: Abnormal male internal genitalia morphology

description: An abnormality of the male internal genitalia.


Perseverative thought

description: Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention.


Iliac artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the iliac artery.


name: Osteolytic defects of the phalanges of the 4th finger

description: Osteolytic defects of the phalanges of the 4th (ring) finger.


Reduced insulin-like factor 3 level

description: Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.


Bilioduodenal fistula

description: An abnormal connection between the gallbladder and the duodenum.


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

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


name: Increased anti-food allergen IgE antibody level

description: Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


Reduced pancreatic beta cells

description: Reduced number of beta cells in the pancreatic islets of Langerhans.


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


Low voltage EEG

description: EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).


name: Elevated circulating guanidinoacetic acid concentration

description: Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.


name: Abnormal response to insulin tolerance test

description: An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.


name: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.


Elevated urinary porphyrin level

description: The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.


name: Fragmentation of the epiphyses of the 3rd toe


Childhood-onset truncal obesity

description: Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.


name: Reduced volume of central subdivision of bed nucleus of stria terminalis

description: A diminished volume of the central part of the bed nucleus of the stria terminalis.


Premature loss of permanent teeth

description: Premature loss of the permanent teeth.


Abnormal cellular phenotype

description: An anomaly of cellular morphology or physiology.


Skin plaque

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


meningocele

description: A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium.


Abnormal venous morphology

description: An anomaly of vein.


Increased CD4:CD8 ratio

description: An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.


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


Mitral opening snap

description: Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.


Abnormal nasal dorsum morphology

description: An abnormality of the nasal dorsum, also known as the nasal ridge.


Ovarian cystadenoma

description: A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.


name: Abnormal urinary nitrogen compound level

description: The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.


Fractured manual digit bone

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


Diffuse cerebral calcification

description: Generalized deposition of calcium salts within the cerebrum.


name: Focal EEG discharges with secondary generalization

description: Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.


Telangiectases of the cheeks

description: Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.


schizencephaly

description: Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.


Abnormal metaphyseal trabeculation

description: An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.


Myocardial eosinophilic infiltration

description: An increase in the number of eosinophils in myocardial tissue.


Reduced social smiling

description: Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.


Type 1 muscle fiber predominance

description: An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).


name: Positive 2,4-dinitrophenylhydrazine urine test

description: Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.


Wrist ganglion

description: A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.


Triphalangeal hallux

description: A hallux (big toe) with three phalanges in a single, proximo-distal axis.


Syntelencephaly

description: Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.


Renal hypoplasia/aplasia

description: Absence or underdevelopment of the kidney.


Aplasia of the inner ear

description: Absence of the inner ear due to a developmental defect.


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

description: Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.


name: Thickening of the lateral border of the scapula


name: Bone-in-a-bone appearance of carpal bones

description: The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.


pineocytoma

description: Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.


Abnormal muscle fiber laminin beta 1

description: A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.


name: Elevated circulating long chain fatty acid concentration

description: Increased concentration of long-chain fatty acids in the blood circulation.


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

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


Abnormal cell proliferation

description: Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.


Renal arteriole medial hypertrophy

description: Increased thickness of middle layer of the arterioles of the kidney.


Platystencephaly

description: Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.


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


name: Abnormality of peripheral nerve conduction

description: An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).


Abnormal temper tantrums

description: Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.


Squared off shoulders

description: An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square.


Indifference to social norms

description: Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.


name: Patchy sclerosis of middle phalanx of finger

description: Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.


melanocytic nevus

description: A neoplasm composed of melanocytes that usually appears as a dark spot on the skin.


Short humerus

description: Underdevelopment of the humerus.


name: Contracture of the metacarpophalangeal joint of the 4th finger

description: Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.


Interrupted aortic arch type A

description: Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.


name: Abnormal proportion of unswitched memory B cells

description: A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.


name: Abnormal circulating calcium-phosphate regulating hormone concentration

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


congenital genu recurvatum

description: An abnormal alignment of the knee backwards that is due to a deformity in the knee joint.


Pseudoepiphysis of the 3rd metacarpal

description: The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term aplies if an accesory epiphysis, located at the proximal end of the metacarpal bone, is present.


Brachycephaly

description: An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.


name: Decreased circulating ACTH concentration

description: The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.


Scrotal hyperpigmentation

description: Increased pigmentation (skin color) of the scrotum.


Psychic epileptic aura

description: Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.


Abnormal trabecular bone morphology

description: Abnormal structure or form of trabecular bone.


Subpleural honeycombing

description: So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.


Uplifted earlobe

description: An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.


Monotonic speech

description: A speech pattern characterized by an abnormal lack of tone in the voice.


name: Reduced circulating cortisol-binding globulin concentration

description: The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.


name: Decreased proportion of naive CD8 T cells

description: An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


Episodic quadriplegia

description: Intermittent episodes of paralysis of all four limbs.


Freckled genitalia

description: One or more brown punctate macules on the skin of the genitalia.


name: Arcuate artery intima/media arteriosclerosis

description: Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.


Abnormal buccal mucosa morphology

description: An abnormality of a buccal mucosa.


name: Grade IV preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.


name: Hypertension resistant to conventional therapy

description: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


name: Osteolytic defects of the proximal phalanx of the hallux


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

description: Absence of the proximal phalanx of the 2nd finger.


Anti-transglutaminase 6 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


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

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


Abnormal muscle fiber myotilin

description: A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.


Delayed vertebral ossification

description: A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.


name: Abnormal posterior cranial fossa morphology

description: An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.


Decreased Achilles reflex

description: Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.


Dysplastic iliac wing

description: A general term that describes a congenital defect in the iliac wing resulting from abnormal development.


Elevated dermal desmosine content

description: An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.


Tented philtrum

description: Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.


name: Plantar crease between first and second toes

description: The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.


name: Double inlet to single ventricle with two atrioventricular valves


Cone-shaped epiphysis

description: Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.


name: Focal sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.


name: Aplasia/Hypoplasia involving the shoulder musculature

description: Absence or underdevelopment of the muscles of the shoulder.


Vivid hallucination

description: Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.


Lumbar hemivertebrae

description: Absence of one half of the vertebral body in the lumbar spine.


Prolinuria

description: Level of proline in the urine anove the upper limit of normal.


Small toe

description: Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.


Short middle phalanx of the 2nd finger

description: Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.


Reduced brain lactate level by MRS

description: A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).


Nonossified fifth metatarsal

description: The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.


Elevated urinary S-sulfocysteine level

description: Level of S-sulfocysteine high in urine above the upper limit of normal.


Abnormal CSF ornithine concentration

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


Proximal muscle weakness in upper limbs

description: A lack of strength of the proximal muscles of the arms.


name: Triangular shaped distal phalanx of the hallux


Radial bowing

description: A bending or abnormal curvature of the radius.


Abnormal bone ossification

description: Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.


name: Cortical radial artery intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.


Absent keratohyalin granules

description: Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.


Easy fatigability

description: Increased susceptibility to fatigue.


Lafora bodies

description: An intraneuronal inclusion body composed of acid mucopolysaccharides.


name: Uric acid urolithiasis independent of gout


name: Fractured proximal phalanx of manual digit 1

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


Gastric pseudomass

description: At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.


Abnormality of the forehead

description: An anomaly of the forehead.


Ectopic accessory finger-like appendage

description: In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).


Perilobar nephrogenic rest

description: A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.


Abnormal terminal:vellus ratio

description: A deviation from the normal proportion of terminal to vellus hairs.


Abnormality of vitamin metabolism

description: An anomaly in the metabolism of a vitamin.


EEG with periodic abnormalities

description: Periodically recurring abnormalities in the EEG.


Nausea and vomiting

description: Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.


Perianal abscess

description: The presence of an abscess located around the anus.


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


Early onset absence seizures

description: Typical absence seizures starting before the age of 4 years.


description: Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.


Perioral spasm

description: A sudden involuntary contraction of the musculature surrounding the mouth.


Perilobar nephroblastomatosis

description: Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).


name: Abnormal circulating purine concentration

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


Radioulnar subluxation

description: Partial dislocation of the radioulnar joint.


Abnormal base excess

description: Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).


Elevated urinary thymidine level

description: The amount of thymidine in the urine, normalized for urine concentration, is below the lower limit of normal.


Elevated urine succinic acid level

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


Mesangial microfibril deposition

description: Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.


Decreased adipose tissue around neck

description: Reduced amount of adipose tissue in the region of the neck.


dentin dysplasia type I

description: Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.


Cerebral hyaline bodies

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


Abnormal CSF protein concentration

description: Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.


Hemothorax

description: The presence of blood in the pleural space.


Abnormal germ cell morphology

description: Any structural anomaly of a reproductive cell.


Patchy palmoplantar hyperkeratosis

description: A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.


Elevated urinary quinolinic acid level

description: The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.


name: Abnormal circulating creatinine concentration

description: An abnormal concentration of creatinine in the blood.


Intracranial neurenteric cyst

description: A neurenteric cyst located within the skull.


Irregular epiphyses of the 2nd finger

description: Irregular radiographic opacity of the epiphyses of the 2nd finger.


Toe pain

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


Adrenal gland agenesis

description: Absent development of the adrenal gland.


Increased urinary hypoxanthine level

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


Squared superior portion of helix

description: Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.


Nasal mucosa telangiectasia

description: Telangiectasia of the nasal mucosa.


Type V atherosclerotic lesion

description: Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.


name: Anti-alanyl-tRNA synthetase antibody positivity

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


triatrial heart

description: A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities.


description: Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.


cranial nerve palsy

description: Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.


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

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


EEG with continuous slow activity

description: EEG showing diffuse slowing without interruption.


Prominent digit pad

description: A soft tissue prominence of the ventral aspects of the fingertips or toe tips.


Impairment of fructose metabolism

description: An impairment of a fructose metabolic process.


Abnormal pancreatic duct morphology

description: Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.


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

description: Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.


Trichoschisis

description: Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.


name: Prominent proximal interphalangeal joints


Gastrostomy tube feeding in infancy

description: Feeding problem necessitating gastrostomy tube feeding.


name: Enlarged epiphyses of the phalanges of the hand

description: Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.


name: EEG with photoparoxysmal response grade II

description: Occurence of epileptiform discharges in occipital and central regions during photic stimulation.


Abnormal urinary organic compound level

description: The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.


Acral blistering

description: Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).


name: Abnormal proportion of CD8-positive T cells

description: Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.


name: Partial right sided absence of pericardium

description: A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.


Abnormal limb epiphysis morphology

description: An anomaly of one or more epiphyses of a limb.


1-4 finger syndactyly

description: Syndactyly with fusion of fingers one to four.


Spinal epidural abscess

description: Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.


name: Aplasia of the distal phalanx of the hallux


ear malformation

description: An abnormality of the ear.


name: Focal aware emotional seizure with agitation

description: Focal emotional seizure with agitation in which awareness is retained throughout.


name: Absent bronchoalveolar dimeric surfactant-protein B

description: Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.


Elevated urinary homogentisic acid

description: An increased amount of homogentisic acid in the urine.


Fractured tibia

description: A partial or complete breakage of the tibia.


name: Increased circulating isovaleric acid concentration

description: Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.


cardiac tamponade

description: Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion.


Clouston syndrome

description: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.


Gallbladder wall thickening

description: Abnormal increased in the thickness of the wall of the gallbladder.


Prominent metopic ridge

description: Vertical bony ridge positioned in the midline of the forehead.


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

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


name: Urinary excretion of sialylated oligosaccharides

description: Excretion of oligosaccharides conjugated to sialic acid in the urine.


Abnormal uterus morphology

description: Any anomaly of the structure of the uterus


name: Abnormal circulating albumin concentration

description: Deviation from normal concentration of albumin in the blood.


Splenogonadal fusion

description: Joining of the spleen and a gonad during embryological development.


name: Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

description: A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.


Exstrophy

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


Fixation-off epileptiform discharges

description: Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).


Positive urine norcotinine test

description: Detection of norcotinine, a metabolite of nicotine, in urine.


Female hypogonadism

description: Decreased functionality of the female gonads, i.e., of the ovary.


Ivory epiphyses of the 4th finger

description: Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


Tessier number 1 facial cleft

description: As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.


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

description: Partial duplication of proximal phalanx of third toe.


Microcephalic sperm head

description: Decreased size of the head of sperm.


Anti-H4 antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H4.


name: Fractured epiphysis of fifth metacarpal bone

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


name: Triangular shaped middle phalanx of the 3rd finger

description: Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.


Reduced total lung capacity

description: Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.


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


Intervertebral disk calcification

description: The presence of abnormal calcium deposition of the intervertebral disk.


Severe SARS-CoV-2 infection

description: Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.


Reduced drug efficacy

description: Decreased response to a drug intervention in comparison to the expected response.


Humeral lytic defects

description: Destruction of an area of humerus bone due to a disease process, such as cancer.


Post-vaccination rubella

description: Infection with the rubella virus of the live-attenuated vaccine.


name: Reduced tissue gamma-glutamyltransferase activity

description: Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.


Atresia of the external auditory canal

description: Absence or failure to form of the external auditory canal.


Abnormal aromatase activity

description: Aromatase activity outside of the normal range.


Facial muscle hypertrophy

description: Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).


Complete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.


Cerebral ventricular adhesions

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


Spontaneous cerebrospinal fluid leak

description: A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).


Aphalangy of the hands

description: Absence of a digit or of one or more phalanges of a finger.


Underfolded superior helices

description: A condition in which the superior portion of the helix is folded over to a lesser degree than normal.


Abnormal coccyx morphology

description: Any structural abnormality of the coccyx.


Postterm pregnancy

description: A pregnancy that extends to 42 weeks of gestation or beyond.


name: Increased CSF L-alloisoleucine concentration

description: An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).


Anti-MDA5 antibody positivity

description: The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).


Abnormal angiostatin level

description: A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.


name: Positive bloodstream plasmodium falciparum nucleic acid pathogen test

description: Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).


Mild conductive hearing impairment

description: A mild form of conductive hearing impairment.


Elevated urine tiglylglycine level

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


Torsion of the penis

description: Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.


Abnormal HDL3a concentration

description: Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.


Platelet antibody positive

description: The presence in the serum of autoantibodies directed against thrombocytes.


name: Abnormal blood inorganic cation concentration

description: An abnormality of divalent inorganic cation homeostasis.


Thick oral frenulum

description: Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.


aorto-ventricular tunnel

description: Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.


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


Addictive video game use

description: The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.


central nervous system cyst

description: A congenital or acquired cyst that is present in the central nervous system.


Anti-smooth muscle antibody positivity

description: The presence in serum of antibodies against smooth muscle.


name: Abnormal cardiomyocyte plakoglobin staining

description: Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.


Mirror image hand polydactyly

description: Mirror image duplication of digits affecting the hands only.


parietal encephalocele

description: An encephalocele located between bregma and lambda.


Fractured cuboid bone

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


Elevated urine manganese level

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


name: Complete diaphragmatic absence of pericardium

description: No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


name: Abnormal total hemolytic complement activity

description: Any deviation from the normal total hemolytic complement activity in the circulation.


name: Reduced hepatic beta-ureidopropionase activity

description: Activity of beta-ureidopropionase in the liver below the lower limit of normal.


Cerebellar agenesis

description: Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.


Abnormal nephron morphology

description: A structural anomaly of the nephron.


name: Pseudoepiphyses of the middle phalanges of the hand

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


4-hydroxyphenyllactic aciduria

description: Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated urinary 3,4-Dihydroxybutyric acid level

description: The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Abnormal immunoglobulin level in body fluid

description: An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.


name: Elevated circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).


Unilateral vocal cord paralysis

description: A loss of the ability to move the vocal fold on one side.


Cortical tubers

description: Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.


name: Dysharmonic maturation of the hand bones

description: Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.


Abnormal ST segment

description: An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.


Abnormal blood cation concentration

description: An abnormality of cation homeostasis.


Shoulder dislocation

description: A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.


name: Abnormal circulating interleukin 17A concentration

description: Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.


Disseminated molluscum contagiosum

description: The presense of molluscum contagiosum lesions across multiple areas of the body.


name: Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts

description: Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.


GM2-ganglioside accumulation

description: Cellular accumulation of GM2 gangliosides.


Cognitive distortion

description: A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.


name: Complete duplication of distal phalanx of the thumb

description: Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.


Pulmonary amyloidosis

description: Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.


Curved middle phalanx of the 3rd toe

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


name: Abnormal circulating interleukin 23 concentration

description: Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.


Prominent ear helix

description: Abnormally prominent ear helix.


Monoclonal elevation of IgG

description: An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.


Upturned corners of mouth

description: Oral commissures positioned superior to the midline labial fissure.


Abnormal antihelix morphology

description: An abnormality of the antihelix.


Medium chain dicarboxylic aciduria

description: An increase in the level of medium chain dicarboxylic acid in the urine.


name: Triangular epiphysis of the distal phalanx of the hallux


Hypnagogic sleep paralysis

description: Sleep paralysis that occurs when falling asleep.


Bloodstream microfilaria

description: Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases.


Decreased serum leptin

description: A decreased concentration of leptin in the blood.


Lichenification

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


Delayed fine motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.


Impaired cerebroside sulfate hydrolysis

description: Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.


Osteolysis involving tarsal bones

description: An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.


Enlarged epiphyses of the 2nd finger

description: Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.


name: Renal arteriole intima/media liquefactive necrosis

description: A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.


name: Elevated circulating C5 acylcarnitine concentration

description: Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.


Anti-21-hydroxylase antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.


name: Abnormal left ventricular ejection fraction

description: Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.


Ineffective esophageal peristalsis

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


Abnormal talus morphology

description: An abnormality of the talus.


Abnormal blood sodium concentration

description: An abnormal concentration of sodium.


Moderate oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.


name: Focal sensory seizure with somatosensory features

description: A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.


Anti-Amphiphysin antibody

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


Dysgenesis of the cerebellar vermis

description: Defective development of the vermis of cerebellum.


name: Stippling of the epiphyses of the 2nd toe

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


Constitutional symptom

description: A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.


dental abscess

description: A tooth disease characterized by a localized collection of pus associated with a tooth.


Reduced euglobulin clot lysis time

description: Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.


Positive mycobacterium CSF microscopy

description: The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF).


Reduced granulocyte CD55 level

description: Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.


Delayed recoil upon stretching of skin

description: Area of skin requiring an increased amount of time to return to its original shape after being stretched.


name: Reduced criculating stearoylcarnitine concentration

description: The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.


name: Increased circulating inhibin B concentration

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


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

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


Lumbar hyperlordosis

description: An abnormal accentuation of the inward curvature of the spine in the lumbar region.


Exercise intolerance

description: A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.


Fractured metatarsal bone of digit 1

description: A partial or complete breakage of the metatarsal bone of digit 1.


name: Decreased level of 1,5 anhydroglucitol in serum

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


Abnormal PR interval

description: An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.


Elevated urinary L-glycerate level

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


verrucous nevus

description: A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings.


Ulnar radial head dislocation

description: A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.


Increased anti-egg IgE antibody level

description: Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.


name: Reduced tissue carnitine O-palmitoyltransferase 2 activity

description: Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle.


name: Symmetric spinal nerve root neurofibromas

description: Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.


Morgagni-Stewart-Morel syndrome

description: Morgagni-Stewart-Morel syndrome is characterized by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant.


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


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

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.


name: Supernumerary bones of the axial skeleton


Pigment incontinence

description: A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.


name: Duplication of the proximal phalanx of hand

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


Abnormal soft palate morphology

description: An abnormality of the soft palate.


Battle sign

description: Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.


CSF lymphocytic pleiocytosis

description: An increased lymphocyte count in the cerebrospinal fluid.


Abnormal biliary tract physiology

description: A functional abnormality of the biliary tree.