Myocardial granulomatous infiltrates

description: The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.


Increased level of D-threitol in plasma

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

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


Decreased urinary metaepinephrine level

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


Localized periodontitis

description: A localized form of periodontitis.


name: Focal cognitive seizure with forced thinking

description: A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.


name: Lymphocytic infiltration of the colorectal mucosa

description: Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.


name: Decreased platelet alpha-2A-adrenergic receptor

description: Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.


Short hard palate

description: Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).


Median pseudocleft lip

description: A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.


description: Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.


Hypoplastic labia majora

description: Undergrowth of the outer labia.


Urethrovesical occlusion

description: Blockage of the flow of urine from the bladder into the urethra.


Cerebral cortical microinfarct

description: An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


thyroid hemiagenesis

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

description: Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.


Uhl anomaly

description: Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.


Abnormal lymphocyte physiology

description: Any anomaly of lymphocyte function.


name: Hepatic lipid-laden macrophage infiltration

description: Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.


name: Focal substantia nigra T2 hyperintensity

description: Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.


Reduced prothrombin antigen

description: Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.


Longitudinal vaginal septum

description: The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.


Ureteral dysgenesis

description: A developmental anomaly of the ureter.


name: Abnormal urine alpha-ketoglutarate concentration

description: A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.


Recurrent paroxysmal headache

description: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.


Focal aware bilateral motor seizure

description: A type of focal bilateral motor seizure during which awareness is fully retained throughout.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


Fractured skull

description: A partial or complete breakage of the skull.


Esophageal web

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


name: Abnormal arcuate artery lumen morphology

description: Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


name: central nervous system infectious disorder

description: An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis.


Athetosis

description: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.


Abnormal pulmonary lymphatics

description: An abnormality of the pulmonary lymphatic chain.


Fibular overgrowth

description: Relatively increased growth of the fibula compared to that of the tibia.


Periauricular skin pits

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


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


Small acrosomal area

description: Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.


Verrucous cell carcinoma of the tongue

description: A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.


Facial wrinkling

description: Excessive wrinkling of the skin of the face.


Truncal obesity

description: Obesity located preferentially in the trunk of the body as opposed to the extremities.


name: Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level

description: The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.


Abnormality of molar

description: An abnormality of molar tooth.


Plantar flexion contracture

description: A type of contracture in which the plantar flexion muscles are contracted.


Fallopian tube torsion

description: A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.


Pulmonary hypertensive crisis

description: Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.


Atypical absence status epilepticus

description: Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.


allesthesia

description: A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus.


Ear pain

description: Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).


Muscular ventricular septal defect

description: The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.


Abnormal uterine cervix morphology

description: An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.


Abnormality of primary teeth

description: Any abnormality of the primary tooth.


Fast-growing nails

description: Nails whose growth is quicker than normal.


Porcelain gallbladder

description: Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.


Abnormal cerebral vein morphology

description: An anomaly of cerebral veins.


Abnormal exteroceptive sensation

description: A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.


name: Osteolytic defects of the middle phalanx of the 2nd toe


Abnormality of venous physiology

description: An anomaly of venous function.


name: Abnormal circulating insulin concentration

description: An abnormal concentration of insulin in the body.


Abnormal spermatogenesis

description: Incomplete maturation or aberrant formation of the male gametes.


Positional foot deformity

description: A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.


Renal arteriole intima/media hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.


deep seated dermatophytosis

description: A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars.


name: Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis

description: A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.


name: Focal aware emotional seizure with fear/anxiety/panic

description: Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.


name: Renal arteriole foam cell endoarterial hypercellularity

description: A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.


Abnormal number of incisors

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


Developmental stagnation

description: A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.


Hot cross bun sign

description: A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).


Brittle hair

description: Fragile, easily breakable hair, i.e., with reduced tensile strength.


name: Elevated circulating 3-hydroxyisovalerylcarnitine concentration

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


Diminished ability to concentrate

description: Being unable to focus one's attention or mental effort on a particular object or activity.


name: Increased level of myristic acid in serum

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


name: Focal aware head nodding automatism seizure

description: A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.


name: Elevated circulating uroporphyrin concentration

description: Concentration of uroporphyrin in the blood circulation above the upper limit of normal.


Anorgasmia

description: Inability of individual to reach orgasm.


Groin pain

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


Aplastic/hypoplastic toenail

description: Absence or underdevelopment of the toenail.


Cervical kyphosis

description: Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.


name: Confluent hyperintensity of cerebral white matter on MRI

description: Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.


Excessive salivation

description: Excessive production of saliva.


Hepatic foam cells

description: The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Cerebellar granular layer atrophy

description: Atrophy of the cerebellum affecting primarily the granular cell layer.


name: Focal impaired awareness autonomic seizure with piloerection

description: A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.


Fingerpad telangiectases

description: Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.


Short chin

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


name: Elevated circulating homovanillic acid concentration

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


Pulmonary xanthomatosis

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


name: Anomalous origin of right coronary artery from the pulmonary artery

description: Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.


name: Agenesis of permanent mandibular central incisor

description: Agenesis of lower secondary incisor.


Enlarged peripheral nerve

description: Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.


Proximal lower limb amyotrophy

description: Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.


Expressive language delay

description: A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.


Honeycomb lung

description: Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.


Hypoplasia of right ventricle

description: Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.


Intellectual disability, severe

description: Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.


Hypoleucinemia

description: Decreased amount of leucine in the blood.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Increased aromatic amino acid level in urine

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


tricuspid valve prolapse

description: Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus.


name: Decreased circulating 17-hydroxyprogesterone concentration

description: Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.


Cor triatrium sinister

description: A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.


eunuchism

description: The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones.


Prolonged QRS complex

description: Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.


Partial hyposmia

description: Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).


name: Osteolytic defects of the phalanges of the 2nd finger


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Diffuse cerebral atrophy

description: Diffuse unlocalised atrophy affecting the cerebrum.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Arteriovenous malformation of the lip

description: A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.


Renal tubular epithelial lipofuscin

description: Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.


Impaired temperature sensation

description: A reduced ability to discriminate between different temperatures.


Pancreatic pseudocyst

description: Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.


name: Elevated circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.


name: Delayed scintigraphic gallbladder filling

description: Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.


Elevated urinary prostaglandin E2 level

description: An increased amount of prostaglandin E2 in the urine.


Dystrophic fingernails

description: The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.


Abnormal duodenum morphology

description: An abnormality of the duodenum, i.e., the first section of the small intestine.


Elevated transferrin saturation

description: An above normal level of saturation of serum transferrin with iron.


Abnormal pleura morphology

description: An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.


Elevated CSF cholestanol concentration

description: The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


Anti-H2A antibody positivity

description: The presence of autoantibodies in the blood circulation that react against histone H2A.


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Partial albinism

description: Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.


Frontal cutaneous lipoma

description: Presence of a cutaneous lipoma on the forehead.


Bifid clitoris

description: Two clitorides located side by side.


Hypovalinemia

description: A decreased amount of valine in the blood.


Left unilambdoid synostosis

description: Premature synostosis of only the left lambdoid suture.


name: Fatiguable weakness of proximal limb muscles

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


Impaired fasting glucose

description: Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.


name: Abnormal left ventricular endsystolic diameter

description: A deviation from the normal range of the left ventricular endsystolic diameter.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Anti-laminin gamma1 antibody positivity

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


Patulous urethra

description: Urethra more open or expanded than normal.


Embryonal renal neoplasm

description: The presence of an embryonal neoplasm of the kidney that primarily affects children.


Posterior pituitary agenesis

description: Absence of the neurohypophysis owing to a developmental defect.


Asymmetry of the mandible

description: Lack of symmetry between the left and right mandible.


Hypoplastic tricuspid valve

description: Congenital defect characterized by underdevelopment of the tricuspid valve.


Agenesis of molar

description: Agenesis of molar tooth.


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


2-hydroxyglutarate aciduria

description: The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Early progressive calcific cardiac valvular disease


Polyclonal elevation of circulating IgA

description: A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.


Preterm intraventricular hemorrhage

description: Intraventricular hemorrhage that occurs in a premature infant.


Hypermagnesiuria

description: An increased concentration of magnesium the urine.


Abnormal pancreas size

description: A deviation from the normal size of the pancreas.


Aplasia/Hypoplasia of the thyroid gland

description: Absence or underdevelopment of the thyroid gland.


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


Renal interstitial calcium oxalate

description: The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.


Music-induced seizure

description: Seizure precipitated by listening to music or other complex sounds.


Thinned small intestinal mucosa

description: Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.


Appendicular hypotonia

description: Muscular hypotonia of one or more limbs.


Hypocalcemic tetany

description: Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.


name: Anti-phosphatidic acid antibody positivity

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


Early inspiratory crackles

description: Crackles that appear at the beginning of inspiration and end before mid-inspiration.


Abnormal toenail morphology

description: An anomaly of the toenail.


Antisperm antibody positivity

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


hereditary geniospasm

description: Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip.


name: Soft-tissue ossification around the shoulders

description: Formation of calcified tissue in the soft tissues surrounding the shoulder.


Abnormal urinary purine level

description: Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.


Type 2 schizencephaly

description: A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.


name: Hepatic melanin-like lysosomal pigmentation

description: Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.


Dibasicaminoaciduria

description: An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually refered to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).


Impaired two-point discrimination

description: A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.


Anti-p53 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.


name: Anomalous origin of the right common carotid artery from the aorta

description: The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.


Eosinophilic gallbladder infiltration

description: Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.


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

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


Scheuermann disease

description: A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


name: Aplasia/Hypoplasia of the fallopian tube

description: Aplasia or developmental hypoplasia of the fallopian tube.


Focal cortical dysplasia type Ia

description: A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.


Dilatation of celiac artery

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


Premature pubarche

description: The onset of growth of pubic hair at an earlier age than normal.


Anti-HLA-A IgG3 antibody positivity

description: The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).


Absent brainstem auditory responses

description: Lack of measurable response to stimulation of auditory evoked potentials.


Abnormality of blood circulation

description: An abnormality of blood circulation.


name: Elevated circulating alpha-oxoadipic acid concentration

description: Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.


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


Patchy sclerosis of distal toe phalanx

description: Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.


name: Abnormal subcutaneous fat tissue distribution


Hypoplastic left atrium

description: Underdeveloped, small left heart atrium


Pallidal degeneration

description: Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.


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


name: Multiple muscular ventricular septal defects

description: A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.


Fragile teeth

description: A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.


Delusional memory

description: A delusional interpretation of a normal memory.


Hypoplasia of the frontal bone

description: Underdevelopment of the frontal bone.


Hyperechogenic kidneys

description: An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.


Screwdriver-shaped incisors

description: An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.


Tubular shadows

description: Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.


name: Increased urinary transitional epithelial cell count

description: An increased number of transitional epithelial cells per high-power field in urinanalysis.


cholesteatoma

description: A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures.


Abnormal temporal bone morphology

description: Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.


Decreased CSF leucine concentration

description: Abnormally decreased levels of leucine in the cerebrospinal fluid.


autoimmune hypoparathyroidism

description: An autoimmune form of hypoparathyroidism.


name: Oligoclonal elevation of circulating IgG

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


name: Elevated CSF chitinase-3-like protein 1 concentration

description: Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.


Lip tremor

description: An unintentional, oscillating to-and-fro muscle movement affecting the lip.


Hippocampal malrotation

description: Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.


Duplication of renal pelvis

description: A duplication of the renal pelvis.


absence of the pulmonary artery

description: A rare vascular anomaly characterized by congenital absence of the right or left pulmonary artery, usually ending within 2 cm of its expected origin from the pulmonary trunk. Patients often also have other cardiovascular abnormalities and respective symptoms and are then typically diagnosed in infancy or childhood, while isolated cases generally present with a mild clinical course and may go undiagnosed until adulthood. Presenting clinical features in isolated cases include hemoptysis, exertional dyspnea, and recurrent respiratory infections. The condition is typically accompanied by marked changes of lung tissue and may, if unrecognized, result in massive hemoptysis and pulmonary hypertension.


Increased urinary sedoheptulose

description: An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.


Urinary space collagenization

description: Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.


Forearm supination contracture

description: A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.


Normal interictal EEG

description: Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.


name: Type 1 congenital pulmonary airway malformation

description: A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.


Nephrotic range proteinuria

description: Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.


Oppenheim reflex

description: Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).


Abnormal septum pellucidum morphology

description: An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.


Eruption failure

description: A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.


name: Reduced erythrocyte free porphyrin concentration

description: Concentration of porphyrin in erythrocytes below the lower limit of normal.


Lack of T cell function

description: Complete inability of T cells to perform their functions in cell-mediated immunity.


Binucleated visceral epithelial cells

description: Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.


chronic idiopathic urticaria

description: Chronic form of idiopathic urticaria.


Elevated brain lactate level by MRS

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


Reduced von Willebrand factor activity

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


External carotid artery dissection

description: A separation (dissection) of the layers of the external carotid artery wall.


Venom allergy

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


name: Abnormal circulating carnitine concentration

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


Abnormality of the philtrum

description: An abnormality of the philtrum.


Abnormality of inferior alveolar nerve

description: An abnormality of an inferior alveolar nerve.


Central nail canal

description: The presence of a depressed line ("canal") in the center of the nail.


Elevated urinary 2-hydroxybutyric acid

description: An increased amount of 2-hydroxybutyric acid in the urine.


name: Abnormal circulating copper concentration

description: An abnormal concentration of copper.


Abnormal right ventricle morphology

description: An abnormality of the right ventricle of the heart.


name: atrial septal defect, coronary sinus type

description: A developmental defect in which the coronary sinus fails to form.


name: Elevated circulating uracil concentration

description: Concentration of uracil in the blood circulation is above the normal range.


Adrenocortical hyperplasia

description: A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.


Anti-ribosome Po antibody positivity

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


Anti-thyroid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


Focal T2 hyperintense thalamic lesion

description: A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.


name: Anomalous coronary artery arising from the opposite sinus

description: Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.


Overjet

description: An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.


Intestinal lymphedema

description: Fluid retention and edema in the intestine caused by a compromised lymphatic system.


CSF mycobacteria

description: Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.


name: Abnormal cerebral venous sinus morphology

description: Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.


Spontaneous hematomas

description: Spontaneous development of hematomas (hematoma) or bruises without significant trauma.


Abnormality of the pylorus

description: An abnormality of the pylorus.


Delusion

description: A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.


Focal neonatal sequential seizure

description: Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.


Tessier number 6 facial cleft

description: A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.


EEG with abnormally slow frequencies

description: EEG with abnormally slow frequencies.


Severe intrauterine growth retardation

description: Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.


Abnormal thoracic duct morphology

description: Any structural anomaly of the thoracic duct.


name: Abnormality of cardiovascular system electrophysiology

description: An anomaly of the electrical conduction physiology of the heart.


carotid artery dissection

description: Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.


Compression-fractured vertebra

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


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


Abnormality of the anterior commissure

description: An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.


Increased circulating galectin-3 level

description: An increased circulation of galectin-3 in the blood circulation.


fibromuscular dysplasia

description: A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.


Abnormally increased motivation

description: An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


Facial hirsutism

description: Excess facial hair.


name: Focal aware cognitive seizure with dysgraphia/agraphia

description: A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.


Hyporeflexia of upper limbs

description: Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.


name: Reduced sympathoneural responses to the cold pressor test

description: Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.


Absent mesencephalon

description: Agenesis of the midbrain.


Aortic arch aneurysm

description: An abnormal localized widening (dilatation) of the aortic arch.


Hypovolemia

description: An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.


Anti-factor VII antibody positivity

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


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

description: Patchy increase in bone density of the distal phalanx of the 5th finger.


Straddling atrioventricular valve

description: Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.


name: Tetralogy of Fallot with absent subarterial conus


Hyperhomocystinemia

description: An increased concentration of homocystine in the blood.


Solitary angiokeratoma

description: A dark, keratotic papule about 2-10 mm in diameter, usually occuring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.


osteoma

description: A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course.


name: Posterior predominant subcortical band heterotopia

description: Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.


Testicular pain

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


hyperkeratosis lenticularis perstans

description: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.


CSF infectious agent

description: The presence of an infectious agent in the cerebrospinal fluid (CSF).


name: Chromosomal breakage induced by crosslinking agents

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.


name: Patent ductus arteriosus after premature birth

description: Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.


Diffuse hepatic steatosis

description: A diffuse form of hepatic steatosis.


Hypothalamic gliosis

description: Focal proliferation of glial cells in the hypothalamus.


name: Stippling of the epiphysis of the proximal phalanx of the thumb

description: The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.


Molar tooth sign on MRI

description: An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.


name: Decreased proportion of unswitched memory B cells

description: A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


name: Renal tubular basement membrane denudation

description: Naked basement membranes without tubular epithelium.


name: Decreased circulating myo-inositol concentration

description: Concentration of myo-inositol in the blood circulation below the lower limit of normal.


Sclerosis of 4th toe phalanx

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


Abnormal facial shape

description: An abnormal morphology (form) of the face or its components.


name: Malformation of the hepatic ductal plate


name: Fractured epiphysis of first metatarsal bone

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


Focal non-motor seizure

description: A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.


mastoiditis

description: Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.


Abnormal circulating androgen level

description: An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.


Hirano bodies

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


Intratesticular abscess

description: A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.


Increased B cell count

description: An abnormal increase from the normal count of B cells.


name: Reduced circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.


Abnormal skeletal muscle morphology

description: A structural abnormality of a skeletal muscle.


Abnormal respiratory system morphology

description: A structural anomaly of the respiratory system.


Misalignment of incisors

description: Misaligned incisor.


Gustatory hallucination

description: Perception of taste without gustatory stimulus.


Aortic laminar medial collapse

description: Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.


name: Focal aware cognitive seizure with memory impairment

description: A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.


Membranous choanal atresia

description: Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.


Patchy sclerosis of finger phalanx

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


xanthinuria

description: A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine.


Prolonged Russell's viper venom time

description: Increased time to coagulation in the Russell's viper venom assay


Gastric neurofibroma

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


name: Renal tubular epithelial cell detachment

description: Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.


name: Elevated circulating linoleylcarnitine concentration

description: Increased concentration of linoleylcarnitine in the blood circulation.


name: Focal aware emotional seizure with paranoia

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


name: Decreased circulating apolipoprotein C-II concentration

description: Reduced concentration of apolipoprotein C-II in the blood circulation.


Sensory behavioral abnormality

description: Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Beta-EEG

description: EEG dominated by diffuse beta-waves (>13 Hz).


name: Abnormal glomerular capillary lumen morphology

description: Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.


name: Periventricular white matter hypodensities

description: Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.


Microvesicular hepatic steatosis

description: A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.


name: Elevated CSF D-glyceric acid concentration

description: The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Abnormal circulating glutamine concentration

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


name: Abnormal circulating phospholipid concentration

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


Absent urinary urothione

description: Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.


Enteric neuronal degeneration

description: Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.


name: Osteolytic defects of the middle phalanx of the 2nd finger

description: Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.


name: Elevated circulating dodecenoylcarnitine concentration

description: An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.


Esophageal food impaction

description: A piece of food that has gotten stuck in the esophagus and prevents further swallowing.


name: Thickened glomerular basement membranes with no electron dense deposits

description: Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.


Recurrent viral pneumonia

description: Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.


name: Cauliflower deformity of dermal collagen fibrils

description: An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.


Fractured phalanx

description: A partial or complete breakage of the phalanx.


Abnormality of the gallbladder

description: An abnormality of the gallbladder.


Increased urinary thiosulfate

description: Increased concentration of thiosulfate(2-) in the urine.


name: Elevated urine 3,6-epoxydicarboxylic acid level

description: The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Anti-laminin 6 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Increased CSF glycine concentration

description: Abnormally increased levels of glycine in cerebrospinal fluid.


Polysyndactyly of hallux

description: Combined syndactyly and polydactyly of the great toe.


Congenital shortened small intestine

description: Substantially shortened length of the small intestine as a result of a developmental defect.


anxiety

description: Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.


Yellow papule

description: A papule with yellow color.


Impaired binding of factor VIII to VWF

description: Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.


name: Reduced renal corticomedullary differentiation

description: Reduced differentiation between renal cortex and medulla on diagnostic imaging.


Abnormal CNS myelination

description: An abnormality of myelination of nerves in the central nervous system.


name: Anti-centromere protein B antibody positivity

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


Paroxysmal supraventricular tachycardia

description: An episodic form of supraventricular tachycardia with abrupt onset and termination.


name: Abnormal left ventricular end-diastolic volume

description: Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).


name: Elevated circulating methylsuccinic acid concentration

description: Increased concentration of methylsuccinic acid in the blood circulation.


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

description: Complete duplication of the middle phalanx of middle finger.


Abnormal nervous system morphology

description: A structural anomaly of the nervous system.


name: Abnormal circulating amino acid concentration

description: The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.


depersonalization disorder

description: A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality.


bilateral polymicrogyria

description: Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.


Decreased platelet glycoprotein VI

description: Decreased cell membrane concentration of glycoprotein VI.


name: Radial deviation of the hand or of fingers of the hand


Excessive hand washing

description: Hand washing behavior that is excessive for the situational context.


Abnormality of urine bicarbonate level

description: An abnormal amount of hydrogencarbonate in the urine.


Fused labia minora

description: Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.


Increased serum bile acid concentration

description: An increase in the concentration of bile acid in the blood.


name: Increased LH response to gonadotropin-releasing hormone stimulation test

description: An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.


name: Abnormal morphology of female internal genitalia

description: An abnormality of the female internal genitalia.


Abnormal carpal morphology

description: An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).


Biceps areflexia

description: Inability to elicit biceps tendon reflex.


Duodenal polyposis

description: Presence of multiple polyps in the duodenum.


Eye poking

description: Repetitive pressing, poking, and/or rubbing in the eyes.


Steroetypic upper-extremity movements

description: Abnormal movements of the upper extremities.


Anti-GABA(A)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


name: Focal aware cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.


name: Impaired visuospatial constructive cognition

description: Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).


Temporal lobe dysplasia

description: A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.


name: Inactivating thyroid-stimulating hormone receptor defect

description: Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.


Elevated urinary carboxylic acid

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


Multifocal neonatal sequential seizure

description: Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.


name: Tubular basement membrane disintegration

description: DIsruption and breaking up of the basement membrane of the tubules of the kidney.


Heliotrope rash

description: In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.


Third cranial nerve hypoplasia

description: Underdevelopment of the third cranial nerve (oculomotor nerve).


name: Reduced CSF pyridoxal-5'-phosphate concentration

description: The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Increased circulating adrenic acid concentration

description: An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.


Abnormal hair morphology

description: An abnormality of the hair.


Placental mesenchymal dysplasia

description: Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.


name: Hypokalemic hypochloremic metabolic alkalosis


Femoral artery duplication

description: A developmental defect characterized by the presence of a supernumerary femoral artery.


Interlobular vein intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


name: Abnormal distribution of CD56 bright/dim natural killer cells

description: An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.


Congenital lactic acidosis

description: A form of lactic acidemia with congenital onset.


Collagenoma

description: A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


name: Increased circulating creatine kinase MB isoform

description: An increased concentration of the MB isoform of creatine kinase in the blood circulation.


Decreased cardiac output

description: A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.


Posteriorly placed anus

description: Posterior malposition of the anus.


Skin dimple

description: Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.


Abnormality of the neck

description: An abnormality of the neck.


shoulder impingement syndrome

description: Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed)


panniculitis

description: Inflammation of the subcutaneous adipose tissue.


Triceps hyporeflexia

description: Reduced intensity of the triceps tendon reflex.


Abnormality of the sublingual glands

description: Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.


name: Abnormal circulating thyroxine-binding globulin concentration

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


Diminishment of social interactions

description: A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Abnormal circulating luteinizing hormone concentration

description: An anomaly of the circulating level of luteinizing hormone (LH).


Abnormal cranial nerve physiology

description: A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.


agoraphobia

description: An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop.


Spinal cord granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.


Abnormality of thyroid physiology

description: An abnormal functionality of the thyroid gland.


name: Abnormality of the musculature of the lower limbs


Abnormal liver physiology

description: Any functional anomaly of the liver.


lymphatic vessel neoplasm

description: A benign or malignant neoplasm arising from the lymphatic vessels.


Palmar pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.


Reduced awareness of convention

description: Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


name: Fibrillary glomerular subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Aphthous ulcer

description: Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.


Anti-hY-RNA complex antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.


Absence seizure with eyelid myoclonia

description: An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.


name: Elevated brain guanidinoacetate level by MRS

description: An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).


Widely spaced primary teeth

description: Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.


name: Elevated CSF L-2-hydroxyglutaric acid concentration

description: The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Adrenal cortical sclerosis

description: Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.


Williams-Campbell syndrome

description: A congenital or acquired abnormality of the wall of the bronchi. In congenital cases, there is lack of rigidity in the cartilage of the bronchial wall. In acquired cases, the cartilage of the bronchial wall is degenerated, secondary to tracheostomy or presence of a breathing tube. Symptoms include noisy breathing and wheezing.


name: Elevated urinary succinyladenosine level

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


anorectal malformation

description: An abnormality of the anus or rectum.


Nail bed telangiectasia

description: Telangiectases in the area of the nails.


pectus excavatum

description: A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.


Hyperkeratotic papule

description: A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).


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


Elevated circulating E selectin level

description: An increased concentration of E selectin in the blood circulation.


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


Aplasia of the uterus

description: Aplasia of the uterus.


name: Increased circulating thyroxine-binding globulin level

description: An elevated concentration of thyroxine-binding globulin (TBG) in the blood.


Abnormally low-pitched voice

description: An abnormal decrease in the pitch of the voice.


Abnormal tibia morphology

description: Abnormality of the tibia (shinbone).


Mixed cirrhosis

description: A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.


Renal tubular adenovirus inclusions

description: Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.


Decreased urinary guanosine level

description: The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.


name: Intrauterine fetal demise of one twin after midgestation

description: Loss of one twin occurring after midgestation (17 weeks gestation).


name: Increased urinary galactosylated oligosaccharide

description: An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


name: Abnormal glomerular mesangial cellularity

description: Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.


Lipiduria

description: An increased lipid content in the urine.


Ichthyosis follicularis

description: Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.


Ectopic gallstone

description: A gallstone located outside of the gallbladder.


name: Abnormal curvature of the vertebral column

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


Abnormal libido

description: Any deviation from the normal sexual drive or desire for sexual activity.


Pontine ischemic lacunes

description: Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.


Anti-insulin antibody positivity

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


Delayed adrenarche

description: Occurence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.


Renal interstitial fibrosis

description: The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.


Inertia

description: Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).


name: Decreased activity of mitochondrial respiratory chain

description: Decreased activity of the mitochondrial respiratory chain.


Ascending tubular aorta aneurysm

description: An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.


sternal cleft

description: Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated.


Intellectual disability, progressive

description: The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.


name: Contracture of the distal interphalangeal joint of the 5th finger

description: Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.


Tibial arterial calcification

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


Pulmonary chondroma

description: A benign cartilaginous tumors of the lung.


Hypertyrosinemia

description: An increased concentration of tyrosine in the blood.


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

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


Ectopic adrenal gland

description: Abnormal anatomical location of the adrenal gland.


Increased urine urobilinogen

description: An elevated concentration of urobilinogen in the urine.


oophoritis

description: Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix.


name: Proximal/middle symphalangism of 5th finger

description: Fusion of the proximal and middle phalanges of the 5th finger.


name: Decreased pancreatic acinar cell density

description: Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.


name: Anti-intrinsic factor antibody positivity

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


Pointed chin

description: A marked tapering of the lower face to the chin.


Diminishment of relationship seeking

description: A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Elevated brain polyol compounds by MRS

description: An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).


Cystic acne

description: A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.


name: Decreased circulating inhibin B concentration

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


Cystic medial necrosis

description: A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.


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

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


Anetoderma

description: Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.


name: Increased hepatitis B virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.


name: Posterior communicating artery infundibulum

description: A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.


Highly elevated creatine kinase

description: An increased CPK level between 4X and 50X above the upper normal level.


Increased urinary epithelial cell count

description: An increased number of epithelial cells per high-power field in urinanalysis.


Sclerosis of 4th finger phalanx

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


name: Microvillar PAS-positive secretory granules

description: The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.


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


Elevated urine pyrophosphate

description: An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.


name: Impaired von Willebrand factor collagen binding activity

description: Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.


Agenesis of premolar

description: Agenesis of premolar tooth.


name: Orofacial action-specific dystonia induced by speech


Focal aware myoclonic seizure

description: A type of focal myoclonic seizure during which awareness is fully retained throughout.


name: Intermittent episodes of respiratory insufficiency due to muscle weakness


Chin with horizontal crease

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


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

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


Agenesis of second permanent molar

description: Agenesis of either mandibular second permanent molar or maxillary second permanent molar.


name: Glomerular PLA2R immune-complex deposition

description: Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.


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

description: Patchy increase in bone density of the proximal phalanx of the 5th finger.


Decreased circulating IgE

description: An abnormally decreased level of immunoglobulin E (IgE) in blood.


Generalized lymphadenopathy

description: A generalized form of lymphadenopathy.


Early cutaneous photosensitivity

description: Photosensitivity of the skin occurring early in life.


gait apraxia

description: Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia.


Photosensitive myoclonic seizure

description: Generalised myoclonic seizure provoked by flashing or flickering light.


name: Elevated circulating deoxyuridine concentration

description: Concentration of 2-deoxyuridine in the blood circulation is above the normal range.


Cotard delusion

description: A false belief that you or your body parts are dead, dying, or do not exist.


Paroxysmal nocturnal dyspnea

description: Attacks of breathlessness that occur at night and may awaken the sleeping patient.


Incomplete cleft hard palate

description: Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


blood vessel neoplasm

description: A neoplasm arising from arteries or veins.


Homoargininuria

description: An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.


Increased level of ribose in urine

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


name: Abnormal inferior thyroid vein morphology

description: An abnormality of an inferior thyroid vein.


Parathyroid hypoplasia

description: Developmental hypoplasia of the parathyroid gland.


name: Increased level of L-pyroglutamic acid in urine

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


Pulmonary lymphangiectasia

description: Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.


name: Cortical radial artery intraluminal thrombi

description: Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


Fourth heart sound

description: The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.


Myocardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


name: Increased circulating very long-chain fatty acid concentration

description: Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.


description: Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.


Convex contour of sole

description: The contour of the foot in lateral profile has a convex shape.


Urethral atresia, female

description: Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.


spondylosis, cervical

description: Arthritis of the cervical spine.


name: Abnormal circulating thyroid hormone concentration

description: Any deviation from the normal range of the hormones produced by the thyroid gland.


Renal arteriolar intraluminal thrombi

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


Widened atrophic scar

description: An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.


Abnormal language feature

description: The presence of any atypical form of expressive language.


Enlarged Eustachian valve

description: An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.


name: Elevated circulating pipecolic acid concentration

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


name: Elevated urine 2-methylacetoacetic acid level

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


Thickening of glomerular capillary wall

description: Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.


name: Elevated left ventricular end-diastolic diameter

description: The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.


Flexion contracture of the 2nd finger

description: Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.


congenital coronary artery anomaly

description: Any structural abnormality of the coronary arteries.


name: Eye of the tiger anomaly of globus pallidus

description: The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.


fallopian tube neoplasm

description: A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma.


Triceps weakness

description: A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.


Penetrating aortic ulcer

description: A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.


name: anomalous left coronary artery from the pulmonary artery

description: A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life.


Abnormal renal glomerulus morphology

description: A structural anomaly of the glomerulus.


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

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


Disturbed perception with a stimulus

description: A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


Slender finger

description: Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.


name: Fractured middle phalanx of manual digit 3

description: A partial or complete breakage of the middle phalanx of manual digit 3.


name: Acute disseminated intravascular coagulation

description: An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.


Rete ridge flattening

description: Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.


Sclerosis of 3rd finger phalanx

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


Motor axonal neuropathy

description: Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.


name: Increased circulating selenium concentration

description: An increased concentration of selenium in the blood circulation.


Anagen effluvium

description: An abnormal loss of anagen (growth phase) hairs.


name: Focal aware cognitive seizure with anomia

description: A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.


Transient decreased circulating IgA

description: A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.


Abnormal mouth floor morphology

description: Any abnormality of the mouth floor.


name: Monoclonal elevation of IgG lambda chain

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


Renal glomerular amyloid deposition

description: Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.


Abnormal lower motor neuron morphology

description: Any structural anomaly of the lower motor neuron.


name: Paradoxical splitting of the second heart sound

description: Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern).


chromhidrosis

description: A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.


Mucinous colorectal carcinoma

description: A subtype of colorectal carcinoma with mucin lakes.


Foramen ovale aneurysm

description: Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.


Suck reflex

description: A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.


name: Transphyseal fracture of the distal humerus

description: A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.


Inappropriate crying

description: Uncontrolled episodes of crying occur without any apparent motivating stimuli.


name: Renal medullary interstitial inflammation

description: Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.


name: Aplasia of the pyramids of the medulla oblongata

description: Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.


Impaired heel-walking ability

description: Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extention weakness leads to difficulties in walking on heels.


Genital edema

description: A buildup of fluid that causes swelling in the soft tissues of the genital area.


Asymmetric abdominal aortic aneurysm

description: An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).


Abnormal papillary muscle morphology

description: Any structural anomaly of the papillary muscles of the left ventricle.