Bilobate gallbladder

description: The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.


Nail bed hemorrhage

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

description: Small areas of bleeding (hemorrhage) under the fingernail or toenail.


Episodic paroxysmal anxiety

description: Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.


name: Patchy sclerosis of the proximal phalanx of the thumb

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


Ambiguous atrioventricular connection

description: With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).


dyscalculia

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

description: A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties.


Anti-HLA-B IgG3 antibody positivity

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


Diaphyseal sclerosis of the upper limbs

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


Hyperbeta-alaninemia

description: Increased concentration of beta-alanine in the blood.


name: Abnormal small intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the small intestine.


name: Aplasia cutis congenita over posterior parietal area


Maternal seizure

description: A seizure during pregnancy.


Pulmonary perfusion defect

description: Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.


Decreased urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.


name: Abnormal intestinal smooth muscle morphology

description: A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.


Congenital hypoparathyroidism

description: Deficiency of parathyroid hormone with congenital onset.


Elevated urine mesaconic acid level

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


name: Aplasia/Hypoplasia of the palmar creases

description: Absence or underdevelopment of the palmar creases.


name: Elevated circulating desmosterol concentration

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


Left axis deviation

description: A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.


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

description: A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.


tinea unguium

description: A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds.


bilateral generalized polymicrogyria

description: Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


Pulmonary artery atresia

description: A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.


Lip fissure

description: A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.


name: Reduced intraepidermal small nerve fiber density

description: Reduced number of small nerve fibers in the skin.


name: Decreased circulating chylomicron concentration

description: Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.


Absent thumbnail

description: Absence of thumb nail.


choriocarcinoma

description: An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.


Ectopic calcification

description: Deposition of calcium salts in a tissue or location in which calcification does not normally occur.


name: Decreased circulating hydroxyproline concentration

description: A decreased amount of hydroxyproline in the blood.


Facial telangiectasia

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


Abnormality of somatic nerve plexus

description: Any abnormality of the somatic nerve plexus.


Anti-factor IX antibody positivity

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


name: Abnormal circulating cholesterol concentration

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


Amyloidosis of peripheral nerves

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


name: Decreased circulating dehydroepiandrosterone concentration


name: Abnormal circulating atrial natriuretic peptide pro-hormone concentration

description: The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.


neuroma

description: A tumor that grows from a nerve or is composed of nerve cells and nerve fibers.


Onychomadesis

description: Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.


Abnormal conus terminalis morphology

description: Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).


Abnormal adrenal morphology

description: Any structural anomaly of the adrenal glands.


Lymph node abscess

description: An inflamed lymph node that is filled with pus.


Facial synkinesis

description: Unintentional movement in one area of the face produced during intentional movement of another area of the face.


name: Cholesterol emboli within interlobular vein lumen

description: Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.


benign cystic nephroma

description: A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid.


Renal atrophy

description: Atrophy of the kidney.


Generalized abnormality of skin

description: An abnormality of the skin that is not localized to any one particular region.


Impaired vibration sensation at ankles

description: A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.


Increased urinary polyhexose

description: An abnormal increase in the concentration of polyhexose in the urine.


name: EEG with photoparoxysmal response grade I

description: Occurrence of epileptiform discharges in occipital regions during photic stimulation.


Social disinhibition

description: A tendency to violate social norms because of a failure to resist temptations or urges in social settings.


Thalamic edema

description: Swelling within the thalamus due to the accumulation of fluid.


Restrictive behavior

description: Behavior characterized by an abnormal limitation to a few interests and activities.


Hypertryptophanemia

description: An increased amount of tryptophan in the blood.


name: Delayed early-childhood social milestone development

description: A failure to meet one or more age-related milestones of social behavior.


Abnormal gastrointestinal transit time

description: A deviation from the normal amount of time required for food to pass through the intestines.


Abnormal stool composition

description: Abnormal level of metabolite or other abnormal analyte result in a stool test.


name: Absent TSH response to thyrotrophin-releasing hormone stimulation test

description: Failure to increase serum TSH levels in response to a TRH stimulation test.


Brachioradialis hyperreflexia

description: Increased intensity of the brachioradialis reflex.


Abnormal neck blood vessel morphology

description: An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


name: Thickened glomerular basement membranes with electron dense deposits


name: Abnormal proportion of class-switched memory B cells

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


Lower thoracic kyphosis

description: Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.


Myeloschisis

description: The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.


name: Abnormality of the common coagulation pathway

description: An abnormality of blood coagulation, common pathway.


name: Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count

description: A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.


Confusion

description: Lack of clarity and coherence of thought, perception, understanding, or action.


Absent cremaster reflex

description: Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.


Palate telangiectasia

description: The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.


Oral cavity telangiectasia

description: Presence of telangiectases in the oral cavity.


name: Mosaic attenuation pattern on pulmonary HRCT

description: A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.


Truncal titubation

description: Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.


name: Increased circulating purine concentration

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


Decreased circulating progesterone

description: An reduced concentration of progesterone in the blood.


name: Abnormal circulating enzyme concentration or activity

description: Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.


Abnormal vas deferens morphology

description: A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.


Anti-GT1a IgG antibody positivity

description: The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.


Polysplenia

description: Polysplenia is a congenital disease manifested by multiple small accessory spleens.


Alkalemia

description: An abnormally high blood pH (usually defined as 7.41 or above).


Intestinal lymphoid nodular hyperplasia

description: A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.


Macrovesicular hepatic steatosis

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


Abnormal finger phalanx morphology

description: Abnormalities affecting the phalanx of finger.


name: Glomerular amyloid subepithelial deposits

description: A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relativly uniform increase in thickness (subjective estimate).


Small pituitary gland

description: An abnormally decreased size of the pituitary gland.


Increased proportion of HLA DR+ T cells

description: An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.


Abnormal lingual artery morphology

description: Any structural abnormality of a lingual artery.


Myelin tomacula

description: The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).


name: Granulomatous arteriolitis of the arteriolar intima/media

description: A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.


Visceral epithelial cell hyperplasia

description: Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.


Agenesis of first permanent molar tooth

description: Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.


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

description: A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.


Metabolic ketoacidosis

description: A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.


Bacterial cell casts

description: A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.


Reduced cooperative play

description: Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.


Anti-Iglon5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).


Gastrointestinal duplication

description: A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.


Pulmonary capillary angioectasia

description: Focal accumulation of dilated pulmonary capillaries.


Dysphonia

description: Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.


Glomerular proteinuria

description: A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.


Dagger-shaped pulp calcifications

description: Dagger-shaped calcifications in the dental pulp.


Kommerell diverticulum

description: Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture.


Metastatic angiosarcoma

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


Hypomagnesemia

description: An abnormally decreased magnesium concentration in the blood.


Medium vessel vasculitis

description: A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.


Tachyphagia

description: Excessively rapid eating of food.


name: Segmentally thickened glomerular basement membrane

description: Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.


name: Glomerular parietal epithelial cell hyperplasia

description: Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.


Colonic diverticula

description: The presence of multiple diverticula of the colon.


name: Abnormal cellular immune system morphology

description: An abnormality of the morphology or counts of the cells that make up the immune system.


Abnormal coronary artery origin

description: Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.


Visual sensory seeking

description: Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.


Interosseus muscle atrophy

description: Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.


name: Focal cognitive seizure with memory impairment

description: A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).


Myotonia with warm-up phenomenon

description: Myotonia that occurs after a period of rest and decreases with continuing exercise.


name: Nodular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.


Impaired proprioception

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


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


Hepatopulmonary fusion

description: Fusion of the liver with the lung.


Vaginal hernia

description: The presence of a hernia of the vagina.


regional odontodysplasia

description: Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues.


Abnormal hip bone morphology

description: An abnormality of the hip bone.


Pancreatic hypoplasia

description: Hypoplasia of the pancreas.


name: Abnormal autonomic nervous system morphology

description: A structural abnormality of the autonomic nervous system.


name: Focal cognitive seizure with dissociation

description: A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.


Widened cerebral subarachnoid space

description: An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.


Middle cerebral artery stenosis

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


Hypopigmented genitalia

description: Localized or generalized decreased genital pigmentation.


name: Decreased circulating aspartic acid concentration

description: An reduced concentration of aspartic acid in the blood circulation.


name: Diminished prolactin response to thyrotrophin-releasing hormone stimulation

description: The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.


Distal sensory impairment

description: An abnormal reduction in sensation in the distal portions of the extremities.


Restlessness

description: A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.


Elevated CSF fumarate concentration

description: An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.


Renal interstitial hemosiderin

description: Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.


Sclerosis of hallux phalanx

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


Recurrent bronchiolitis

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


name: Elevated circulating deoxypyridinoline concentration

description: An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.


Objectification of others

description: A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.


Intercrural pterygium

description: A pterygium (or pterygia) in the intercrural (groin) region.


Absent facial hair

description: Absence of facial hair.


Recurrent urinary tract infections

description: Repeated infections of the urinary tract.


name: Increased urine hexacarboxylporphyrin level

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


Increased muscle fatiguability

description: An abnormal, increased fatiguability of the musculature.


Abnormal muscle physiology

description: A functional abnormality of a skeletal muscle.


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


Ovotestis

description: A gonad that contains both ovarian follicles and testicular tubular elements.


Abnormal circulating inhibin level

description: Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.


name: Abnormal circulating C-peptide concentration

description: An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.


Phantosmia

description: Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.


name: Elevated circulating methylmalonylcarnitine concentration

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


Aplasia/Hypoplasia of the sacrum

description: Aplasia or developmental hypoplasia of the sacral bone.


2,8-dihydroxyadenine crystalluria

description: The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.


name: Coarctation of the descending aortic arch

description: Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.


Podocyte myelin figures

description: Lamellated intracytoplasmic lipid inclusions within podocytes.


Hypochloremia

description: An abnormally decreased chloride concentration in the blood.


Spontaneous pain sensation

description: Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.


Abnormal bone structure

description: Any anomaly in the composite material or the layered arrangement of the bony skeleton.


name: Elevated circulating glycolate concentration

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


Spastic tetraparesis

description: Spastic weakness affecting all four limbs.


Increased CSF ribose concentration

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


Hyperuricosuria

description: An abnormally high level of uric acid in the urine.


name: Increased amyloid beta 40 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).


name: Decreased circulating androstenedione concentration

description: Reduced concentration of androstenedione in the blood circulation.


Bloody diarrhea

description: Passage of many stools containing blood.


Alcohol-induced rhabdomyolysis

description: Rhabdomyolysis induced by intake of alcohol.


Small basal ganglia

description: Decreased size of the basal ganglia.


Papillary cystadenoma of the epididymis

description: A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.


Elevated urinary deoxyuridine level

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


Peau d'orange

description: Swelling and dimpling of the surface of the skin, which is typically associated with carcinoma of the breast.


Renal arteriole medial atrophy

description: Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.


Generalized-onset epileptic spasm

description: A type of epileptic spasm of generalized onset.


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).


Punding

description: Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.


Frontalis muscle weakness

description: Reduced strength of the frontalis muscle (which is located on the forehead).


name: seizures-intellectual disability due to hydroxylysinuria syndrome

description: Seizures-intellectual disability due to hydroxylysinuria syndrome is characterized by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient.


Addictive sex behavior

description: Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.


Celiac artery dissection

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


name: Increased circulating arachidonic acid concentration

description: An increased circulation of arachidonic acid in the blood circulation.


Vaginal atresia

description: Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.


Urinary bladder neurofibroma

description: A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.


Severe expressive language delay

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


name: Right aortic arch with retroesophageal diverticulum of Kommerell

description: Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.


Abnormality of the premaxilla

description: An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.


Distal upper limb muscle weakness

description: Reduced strength of the distal musculature of the arms.


Prenatal movement abnormality

description: An abnormality of fetal movement.


Aplasia of the bladder

description: Aplasia (absence) of the urinary bladder.


Abnormal natural killer cell physiology

description: A functional anomaly of the natural killer cell.


Increased serum serotonin

description: A increased concentration of serotonin in the blood.


name: Abnormal large intestinal mucosa morphology

description: A structural anomaly of the mucous lining of the large intestine.


name: Cortical radial artery medial/intimal arteriitis

description: Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.


name: Increased pulmonary capillary wedge pressure

description: Pulmonary capillary wedge pressure (PCWP) above 15mmHg.


name: Focal hypointensity of cerebral white matter on MRI


name: Elevated circulating hexacosanoic acid concentration

description: Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.


name: Focal aware emotional seizure with laughing

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


Moderate receptive language delay

description: A moderate delay in the acquisition of the ability to understand the speech of others.


Common atrium

description: Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.


Abnormal pulmonary fissure morphology

description: An abnormal form or number of the pulmonary fissures.


topographical agnosia

description: An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognize objects.


Neurodevelopmental delay

description: Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.


spasmodic dystonia

description: A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx.


Increased glucagon level

description: An elevated concentration of glucagon in the blood circulation.


Bile duct proliferation

description: Proliferative changes of the bile ducts.


Persistent falcine venous sinus

description: A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.


specific learning disability

description: Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V)


colpocephaly

description: Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.


Bent sperm neck

description: Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.


Anti-factor H antibody positivity

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


Primary microcephaly

description: Head circumference below 2 standard deviations below the mean for age and gender at birth.


name: High nonceruloplasmin-bound serum copper

description: An increased concentration of non ceruloplasmin bound copper in the blood.


odontogenic neoplasm

description: A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain.


name: Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells

description: An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.


Glabellar reflex

description: A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.


name: Left superior vena cava draining to coronary sinus

description: A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.


description: Neonatal bilateral symmetric 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) that occurs at both sides of the body symmetrically.


Gastric hypertrophy

description: Hypertrophy of the stomach.


name: EEG with generalized polymorphic epileptiform discharges

description: Generalized epileptiform discharges of different shapes and frequencies.


Decreased circulating 12-HETE

description: A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.


Mesangial Immune complex deposition

description: Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.


Absent lanugo

description: Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.


name: Anti-neurofascin 186 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.


name: Failure to elevate ammonia on ischemic exercise

description: Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.


Increased proportion of naive B cells

description: An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.


name: Anomalous origin of the left anterior descending artery from the pulmonary artery

description: The left anterior descending artery (LAD) branches off from the pulmonary artery.


Increased serum estrone

description: An elevation above normal limits of the concentration of estrone in the circulation.


name: Focal impaired awareness sensory seizure with auditory features

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


Focal aware hyperkinetic seizure

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


Antigliadin antibody positivity

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


Intrahepatic bile duct cysts

description: The presence of cyst of the intrahepatic bile duct.


Abnormal ciliary motility

description: Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.


Abnormality of the hand

description: An abnormality affecting one or both hands.


Enhancement of the C-reflex

description: Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.


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

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


name: central nervous system primitive neuroectodermal neoplasm

description: A neuroectodermal tumor that involves the central nervous system.


Abnormal pulmonary valve physiology

description: Any functional anomaly of the pumonary valve.


Nervous tissue neoplasm

description: A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).


Abnormal hippocampus morphology

description: Any structural anomaly of the hippocampus,


name: Decreased circulating thrombopoietin concentration

description: Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.


Abnormal ankle morphology

description: A structural anomaly of the ankle.


Urethral valve

description: The presence of an abnormal membrane obstructing the urethra.


Supernumerary spleens

description: The presence of two or more accessory spleens.


Decreased serum estrone

description: A reduction below normal limits of the concentration of estrone in the circulation.


Confusional arousal

description: A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.


name: Medullary peritubular capillary erythrocyte congestion

description: Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).


Elevated brain glutamine level by MRS

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


Short sperm flagella

description: Sperm cells with abnormally short flagella.


Prolonged bleeding time

description: Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.


name: Cleavage at junction of stratum corneum and stratum granulosum

description: Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.


Moderate to late preterm birth

description: Birth at 32 to 36 completed weeks of gestation.


name: Bilateral symmetric neonatal sequential seizure

description: Symmetric 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 symmetrically but with a variety of clinical and electrographic signs.


Abnormal peristalsis

description: An anomaly of the wave-like muscle contractions of the digestive tract.


encephalomalacia

description: Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation.


Multifocal splenic abscess

description: Multiple abscess lesions in the spleen.


name: EEG with spike-wave complexes (2.5-3.5 Hz)

description: The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).


Generalized osteosclerosis

description: An abnormal increase of bone mineral density with generalized involvement of the skeleton.


Libman-Sacks lesions

description: Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.


Discolored lateral incisors

description: The presence of discolored lateral incisors.


name: Stippling of the epiphyses of the proximal phalanges of the hand


name: Focal cognitive seizure with deja vu/jamais vu

description: A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.


Pseudobulbar signs

description: Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.


name: Decreased circulating gonadotropin concentration

description: A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


name: Adult onset sensorineural hearing impairment

description: The presence of sensorineural deafness with late onset.


Temporal lobe megalencephaly

description: Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.


Face of the giant panda sign

description: The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.


Focal clonic seizure

description: A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.


levocardia

description: A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation.


Shoulder pain

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


name: Cortical radial artery intraluminal organized thrombi

description: Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.


verruciform xanthoma of skin

description: A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages.


placenta accreta

description: The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize)


name: Focal epileptiform discharges with limited propagation to contralateral hemisphere

description: Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.


eclampsia

description: A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures.


name: Elevated circulating 3-methyl-2-oxovaleric acid concentration

description: The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.


Elevated urine propionic acid level

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


name: Decreased motor nerve conduction velocity

description: A type of decreased nerve conduction velocity that affects the motor neuron.


name: Elevated urinary N,N-dimethylglycine level

description: An increased concentration of N,N-dimethylglycine in the urine.


Abnormal lymph node cell composition

description: A deviation from the normal distribution of cell types or their relative proprotions in a lymph node.


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


Decreased CSF histidine concentration

description: Abnormally decreased levels of histidine in cerebrospinal fluid.


Hepatic bridging fibrosis

description: Hepatic fibrosis that reaches from a portal area to another portal area.


Tented upper lip vermilion

description: Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.


Reduced CSF dopamine concentration

description: Decreased concentration of dopamine in the cerebrospinal fluid (CSF).


Food-induced anaphylaxis

description: Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Pulmonary venous hypertension

description: An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.


Increased blood folate concentration

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


Happy demeanor

description: A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.


Abnormality of B cell physiology

description: An abnormality of the physiological functioning of B cells.


name: Elevated circulating 3-hydroxybutyryl-carnitine concentration

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


name: Abnormal synaptic transmission at the neuromuscular junction

description: Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.


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

description: Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.


Fulminant hepatic failure

description: Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.


brachydactyly type A4

description: Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.


Jaw claudication

description: Pain in the jaw or ear induced by chewing or otherwise moving the jaw.


Abnormal spinal meningeal morphology

description: Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.


Cellular crescent

description: A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.


Cerebral venous thrombosis

description: Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.


Chronic furunculosis

description: A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.


EEG with frontal focal spike waves

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


Increased urine succinate level

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


Recurrent infections

description: Increased susceptibility to infections.


Renal interstitial hemorrhage

description: A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.


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

description: Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


Myotonia of the upper limb

description: Slowed relaxation of muscles in the arm.


Pituitary calcification

description: Deposition of calcium salts in the pituitary gland.


Vaginal pruritus

description: A sensation of itching in the vagina.


Decreased iduronate sulfatase level

description: An decreased level of iduronate-2-sulfatase activity in the blood circulation.


Abnormality of the lower urinary tract

description: An abnormality of the lower urinary tract.


name: Aplasia cutis congenita over the scalp vertex

description: A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.


Mallory-Weiss syndrome

description: A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics.


Distal peripheral sensory neuropathy

description: Peripheral sensory neuropathy affecting primarily distal sensation.


Impaired leukocyte adhesion

description: During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.


name: EEG with parietal epileptiform discharges

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


Ureteral atresia

description: A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.


Brain xanthomatosis

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


name: Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

description: An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.


Atelectasis

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


Abnormal oral mucosa morphology

description: Abnormality of the oral mucosa.


Tiger tail banding

description: An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.


Fractured lumbar vertebra

description: A partial or complete breakage of the lumbar vertebra.


Eating-induced seizure

description: A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.


name: Focal aware sensory seizure with vestibular features

description: A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.


Abnormal cortical gyration

description: An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.


Cerebral inclusion bodies

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


Bilateral conductive hearing impairment

description: A bilateral type of conductive hearing impairment.


Double aortic arch

description: A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).


Nail-biting

description: Habitual biting of one's own fingernails.


Elevated urine octenedioic acid level

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


Hyperactive renin-angiotensin system

description: An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.


Calcium phosphate nephrolithiasis

description: The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.


cervical incompetence

description: A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis.


Muscular subvalvular aortic stenosis

description: A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.


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


Abnormal tricuspid valve physiology

description: Any functional defect of the tricuspid valve.


Complete cleft hard palate

description: Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.


name: Elevated urinary monocarboxylic acid level

description: Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.


Persistent fever

description: Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.


Split nail

description: A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.


Abnormality of artery of lower lip

description: An abnormality of an artery of lower lip.


Myoclonic tremor

description: A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.


Chronic decreased circulating IgG3

description: A lasting decrease of immunoglobulin G3 (IgG3) in the blood.


Abnormal blood folate concentration

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


Aplasia of the fallopian tube

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


Transient decreased circulating IgG4

description: A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.


name: Supracardiac total anomalous pulmonary venous connection

description: Type 1 total anomalous pulmonary venous connection.


name: Reduced circulating growth hormone concentration

description: Concentration of growth hormone in the blood circulation below normal limits.


name: Gonadal dysgenesis with female appearance, male

description: Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.


Abnormal HDL3c concentration

description: Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.


Flank pain

description: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.


Hypomanganesemia

description: A reduction below the normal concentration of manganese in the blood.


Splenic rupture

description: A breach of the capsule of the spleen.


Abnormal oral glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.


Pancreatic calcification

description: The presence of abnormal calcium deposition lesions in the pancreas.


Autonomic epileptic aura

description: An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.


Urinary bladder sphincter dysfunction

description: Abnormal function of a sphincter of the urinary bladder.


Smooth philtrum

description: Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.


Recurrent respiratory infections

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


Abnormal fear-induced behavior

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


Homocitrullinuria

description: An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.


Decreased circulating T4 concentration

description: A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).


Oropharyngeal squamous papilloma

description: A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].


Small intestinal perforation

description: A hole (perforation) in the wall of the small intestine.


Cervical spinal canal stenosis

description: An abnormal narrowing of the cervical spinal canal.


Small intestinal polyposis

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


Reduced brain glutamine level by MRS

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


name: Chronic disseminated intravascular coagulation

description: A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.


Stippling of thumb epiphysis

description: The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.


pyromania

description: A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting.


Abnormality of the respiratory system

description: An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.


Refractory status epilepticus

description: Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.


Anti-NR2A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.


Prominent scrotal raphe

description: Increased size of the ridge of tissue that extends along the midline of the scrotum.


autosomal dominant prognathism

description: Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion).


Spoken word recognition deficit

description: Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.


Hemihypertrophy of lower limb

description: Overgrowth of only one leg.


Increased level of galactitol in plasma

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


Myocardial fibrosis

description: Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.


Periventricular ribbonlike heterotopia

description: Heterotopia that forms a continuous wavy line along the ventricular wall.


Inflammatory cap polyp

description: A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.


name: Abnormal fetal cardiovascular physiology

description: Abnormal functionality of the fetal cardiovascular system.


Recurrent pharyngitis

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


Fibro-obliterative bile-duct lesion

description: A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.


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

description: An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


Atypical absence seizure

description: An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.


Abnormal urine urobilinogen level

description: An abnormal concentration of urobilinogen in the urine.


Abnormal dental morphology

description: An abnormality of the morphology of the tooth.


Pulmonary paraglioma

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


Bruxism during sleep

description: Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.


Intranuclear cardiomyocyte mitochondria

description: Abnormal localization of mitochondria within the nuclei of cardiomyocytes.


Pleural cyst

description: A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.


Anti-GM1 IgM antibody positivity

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


Postcoital vaginal bleeding

description: Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.


name: Respiratory insufficiency due to defective ciliary clearance


Gingival fragility

description: Gums that are easily damaged.


Pulsus paradoxus

description: Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.


Abnormal immunoglobulin level

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


name: Intermediate atrioventricular canal defect

description: A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.


Abnormal cystatin C level

description: Any deviation from the normal concentration of cystatin C in serum or plasma.


Perinuclear cardiomyocyte vacuolization

description: Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.


Slow-growing scalp hair

description: Scalp hair whose growth is slower than normal.


Abnormality of the biliary system

description: An abnormality of the biliary system.


name: Tetralogy of Fallot with pulmonary atresia

description: An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.


name: Elevated urinary 3-hydroxyisobutyric acid level

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


Infantile hydrocele

description: Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.


Brain abscess

description: A collection of pus, immune cells, and other material in the brain.


Obstructive shock

description: A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).


name: Impaired renal tubular reabsorption of magnesium

description: Decreased renal tubular reabsorption of magnesium.


Short dental root

description: Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.


Tetraplegia/tetraparesis

description: Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.


name: Elevated circulating tiglylcarnitine concentration

description: Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.


name: Decreased CD69 upregulation upon TCR activation

description: Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).


Abnormal dental pulp morphology

description: An abnormality of the dental pulp.


Decreased glucagon level

description: A reduced concentration of glucagon in the blood circulation.


name: Reduced circulating C-reactive protein concecntration

description: An abnormal decrease of the C-reactive protein level in serum.


Beevor's sign

description: Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.


carcinoid tumor

description: A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement.


EEG with frontal sharp waves

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


name: Bilateral tonic-clonic seizure on awakening

description: Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).


Leucinuria

description: Increased level of leucine in urine.


Hydrometrocolpos

description: Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.


Partial anosmia

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


name: Elevated urine 4-hydroxyisovaleric acid level

description: Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.


Non-glucose reducing substance in urine

description: Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).


ST segment elevation

description: An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.


name: Glomerular capillary wall duplication with cellular interposition

description: Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.


name: Increased circulating dehydroepiandrosterone-sulfate concentration

description: Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.


Fragile nails

description: Nails that easily break.


name: Abnormal CSF N-acetylaspartic acid concentration

description: Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Abnormality of the immune system

description: An abnormality of the immune system.


Abnormal gallbladder morphology

description: A structural anomaly of the gallbladder.


Neoplasm of the anterior pituitary

description: A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.


name: Abnormally low T cell receptor excision circle level

description: Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.


Complete cleft soft palate

description: Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.


Femoral neck fracture

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


Abnormal liver metabolite concentration

description: The concentration of a metabolite in the liver is above or below the limits of normal.


Absent tonsils

description: Lack of observable tonsillar tissue.


vaginal discharge

description: Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer.


Renal interstitial granulomas

description: Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.


Gastric arteriovenous malformation

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


Delayed gross motor development

description: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.


Hepatic periportal necrosis

description: A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.


name: Stippling of the epiphyses of the 3rd toe

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


Joint dislocation

description: Displacement or malalignment of joints.


Placidity

description: Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.


name: Elevated circulating dihydrouracil concentration

description: An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.


name: Partial diaphragmatic absence of pericardium

description: Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.


Abnormal jugular vein morphology

description: Any structural abnormality of a jugular vein.


Dimple chin

description: A persistent midline depression of the skin over the fat pad of the chin.


name: Abnormality of the spinocerebellar tracts

description: An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.


Portal fibrosis

description: Fibroblast proliferation and fiber expansion from the portal areas to the lobule.


name: Abnormal response to gonadotropin-releasing hormone stimulation test

description: An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).


Complete breech presentation

description: A kind of breech presentation in which the hips are flexed and the knees are flexed.


Increased circulating mead acid level

description: An abnormally elevated concentration od mead acid in the blood circulation.


renal fibrosis

description: A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis.


Decreased proportion of naive T cells

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


Bartholin cyst

description: A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.


Pulmonary hemorrhage

description: Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.


name: Anti-voltage-gated potassium channel antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.


Abnormal auditory canal morphology

description: Any structural abnormality of the external acoustic tube (also known as the auditory canal).


Fractured distal tarsal bone 2

description: A partial or complete breakage of the distal tarsal bone 2.


Hernia

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


Abnormal number of hair whorls

description: More than two clockwise hair whorls.


Gastrocnemius contracture

description: Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.


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


Bilateral triphalangeal thumbs

description: A bilateral form of triphalangeal thumb.


Short esophagus

description: Abnormal reduction in the length of the esophagus.


Abnormal interest in others

description: A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.


Cardiac hemangioma

description: Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.


Aplasia/Hypoplasia of facial bones

description: A developmental defect characterized by absence or underdevelopment of one or more facial bone.


Distal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.


name: Focal impaired awareness sensory seizure with vestibular features

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


name: Weakness due to upper motor neuron dysfunction

description: Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.


name: Renal juxtaglomerular cell hypertrophy/hyperplasia

description: Increased number and size of the juxtaglomerular cells.


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

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


Autonomic bladder dysfunction

description: Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.


Fingernail dysplasia

description: An abnormality of the development of the fingernails.


Dissociation

description: Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.


Increased CSF glutamate concentration

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


Horseshoe lung

description: A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.


Fallopian tube duplication

description: The presence of a supernumerary Fallopian tube.


T2 hypointense basal ganglia

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


name: Increased urinary type 1 collagen N-terminal telopeptide level

description: An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.


name: Focal cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.


Midshaft hypospadias

description: Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.


Abnormal oligodendroglia morphology

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


Bilateral apical pulmonary fibrosis

description: A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.


Decreased CSF protein concentration

description: CSF total protein level is below the lower limit of normal.


Absent testis

description: Testis not palpable in the scrotum or inguinal canal.


name: Increased urinary non-proteinogenic amino acid level

description: An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.


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

description: Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.


Fractured acetabular part of hip bone

description: A partial or complete breakage of the acetabular part of hip bone.


Acrobrachycephaly

description: An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.


Abnormal vertebral morphology

description: An abnormality of one or more of the vertebrae.


Prolonged P wave

description: Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.


Myoclonic status epilepticus with coma

description: A type of myoclonic status epilepticus in the presence of coma.


Anti-LAD-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.


Posttussive emesis

description: Vomiting following a coughing spell.


Alpha-aminoadipic aciduria

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


Abnormal liver lobulation

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


Decreased QRS voltage

description: Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.


name: Abnormal circulating cytokine concentration

description: Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.


name: Increased proportion of unswitched memory B cells

description: An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.


Arcuate vein intraluminal thrombi

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


Hyperglutaminuria

description: An increased concentration of glutamine in the urine.


metaphyseal chondrodysplasia

description: An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.


Impaired glucose tolerance

description: An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.


Finger pain

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


1-4 toe syndactyly

description: Syndactyly with fusion of toes one to four.


Absent sperm flagella

description: Sperm cells lacking flagella.


name: transient hypogammaglobulinemia of infancy

description: A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.


Hypothalamic hypometabolism in FDG PET

description: Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.


hyperemesis gravidarum

description: Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances.


Dairy allergy

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


Intracranial dermoid cyst

description: A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.


Bull's eye rash

description: A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.


Abnormal drug response

description: An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.


Dental crowding

description: Changes in alignment of teeth in the dental arch


Central nervous system axonal spheroid

description: Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.


Cellular immunodeficiency

description: An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.


Impaired toe-walking ability

description: Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.


Gordon reflex

description: Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).


Thickened aortic valve cusp

description: An abnormally increased thickness of a leaflet of the aortic valve.


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

description: Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.


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


Generalized aminoaciduria

description: An increased concentration of all types of amino acid in the urine.


name: Abnormal urine isobutyrylglycine concentration

description: Abnormal concentration of isobutyrylglycine in the urine.


Anti-Th/To antibody positivity

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


Enlarged cerebellum

description: An abnormally increased size of the cerebellum compared to other brain structures.


Hypoplastic hippocampus

description: Underdevelopment of the hippocampus.


name: Decreased circulating UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


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

description: Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.


Excessively loud speech

description: Speech which is abnormally loud that is not due to a structural or muscular abnormality.


Vasculitis by anatomical site

description: Vasculitis categorized according to the anatomical site where the finding is localized.


Focal behavior arrest seizure

description: A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.


name: Reduced brain gamma-aminobutyric acid level by MRS

description: An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).


Abnormal urinary inosine level

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


Severe hearing impairment

description: A severe form of hearing impairment.