name: Abnormal circulating aspartate family amino acid concentration

description: Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.


Fractured distal phalanx

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

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


name: Elevated CSF 5-hydroxymethyluracil concentration

description: The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Self-mutilation

description: Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.


Increased urinary hexanoic acid level

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


otitis media with effusion

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

description: Otitis media associated with accumulation of fluid in the middle ear.


Abnormal lip morphology

description: An abnormality of the lip.


Hypocitraturia

description: A lower than normal concentration of citrate(3-) in the urine.


name: Aplasia/Hypoplasia of the corpus callosum

description: Absence or underdevelopment of the corpus callosum.


Small intestine mass

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


Anti-Ma antibody positivity

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


Neutral hyperaminoaciduria

description: The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.


2-4 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.


name: Anti-U1 ribonucleoprotein antibody positivity

description: The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.


Lack of interest in peers

description: Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.


Pancreatic fistula

description: An abnormal communication between the pancreas and another organ or cavity.


Conical maxillary incisor

description: An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.


name: Metachromatic intraneuronal lipid deposits

description: Accumulation of metachromatically staining lipid material in neurons. This finding is typically ascertained in a peripheral nerve.


Abnormal labia minora morphology

description: An anomaly of the labia minora, the folds of skin between the outer labia.


High palate

description: Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).


name: Impaired renal tubular reabsorption of glucose

description: Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.


Dural tail sign

description: This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.


Hyperextensible skin

description: A condition in which the skin can be stretched beyond normal, and then returns to its initial position.


Leung cusp

description: An additional cusp located in the middle of the occlusal surface.


Malar rash

description: An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.


name: Eosinophilic infiltration of the esophagus

description: Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.


Large keratohyaline granules

description: Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.


Radiculomegaly

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


Vasculitis by histology

description: Vasculitis categorized according to type of histological abnormality.


Narrow philtrum

description: Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.


name: Decreased circulating adenosylcobalamin concentration

description: The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.


name: EEG with temporal epileptiform discharges

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


Splenic calcification

description: Calcification, that is, pathological deposition of calcium salts in the spleen.


Elevated urine suberylglycine level

description: Level of suberylglycine in urine above upper limit of normal.


Abnormal long bone morphology

description: An abnormality of size or shape of the long bones.


Praxis-induced seizure

description: A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.


Increased cardiac index

description: An elevated cardiac index, defined as cardiac output divided by body surface area.


Paroxysmal tachycardia

description: An electrocardiographic finding of episodic tachycardia with abrupt onset and termination.


postaxial polydactyly of fingers

description: Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).


Fusion of gums

description: A congenital defect with an abnormal joining of the gums of the upper and lower jaw.


Impaired ability to plan

description: Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.


name: Impaired sensitivity to thyroid stimulating hormone

description: Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).


Ventricular couplet

description: Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.


Infrequent social initiations

description: Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.


Blind vagina

description: The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.


nonsyndromic congenital nail disorder 2

description: The natural longitudinal (posterodistal) convex arch is not present or is inverted.


Abnormality of the middle ear

description: An abnormality of the middle ear.


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

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


Elevated urinary aminoisobutyric acid

description: An increased amount of 3-aminoisobutyric acid in the urine.


name: Gonadal tissue inappropriate for external genitalia or chromosomal sex


name: Abnormal peritubular capillary morphology

description: Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,


Large basal ganglia

description: Increased size of the basal ganglia.


name: Focal aware cognitive seizure with dyslexia/alexia

description: A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.


name: Abnormal circulating carboxylic acid concentration

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


Abnormality of skin pigmentation

description: An abnormality of the pigmentation of the skin.


nominal aphasia

description: Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people.


Abnormal circulating IgG level

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


name: Elevated circulating N,N-dimethylglycine concentration

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


hypersomnia

description: A sleep disorder characterized by excessive sleepiness.


Painful defecation

description: An unpleasant sensation characterized by physical discomfort that occurs when passing stool.


B lymphocytopenia

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


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

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


Increased CSF citrulline concentration

description: Abnormally increased levels of citrulline in cerebrospinal fluid.


Ectopic ovary

description: Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.


name: isolated anterior cervical hypertrichosis

description: Anterior cervical hypertrichosis is a rare form of localized hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.


name: Increased amyloid beta 42 peptide CSF concentration

description: An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).


Absent fifth fingernail

description: Absence of nail of little finger.


Elevated CSF ammonia concentration

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


name: Coronary cameral fistula to right ventricle

description: An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.


Renal cortical atrophy

description: Atrophy of the cortex of the kidney.


Premature anterior fontanel closure

description: Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.


Klazomania

description: Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.


Cleft lower lip

description: A gap in the lower lip.


Abnormality of temperature regulation

description: An abnormality of temperature homeostasis.


Abnormal homeostasis

description: An anomaly in the processes involved in the maintenance of an internal equilibrium.


Abnormal olfactory lobe morphology

description: A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.


Fractured manual digit 1 phalanx

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


Hyperprostaglandinuria

description: An increased concentration of prostaglandin in the urine.


Helicobacter pylori infection

description: A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.


Fetal scalp mass

description: An abnormal growth (lump) of tissue that projects from the fetal scalp.


name: Irregularly shaped keratohyaline granules

description: Abnormal shape of keratohyaline granules in dermal keratinocytes.


Hypersarcosinuria

description: An elevated urinary concentration of sarcosine.


Prolonged bleeding after surgery

description: Bleeding that persists longer than the normal time following a surgical procedure.


Anti-mGluR5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).


Keratocystic odontogenic tumor

description: An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence.


Abnormal urine osmolality

description: A deviation from the normal range of concentration of particles in urine.


Interlobular vein medial hypertrophy

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


Partial agenesis of the corpus callosum

description: A partial failure of the development of the corpus callosum.


Oral erythroplakia

description: A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.


Widened cerebellar subarachnoid space

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


Increased circulating IgG3 level

description: An abnormally increased concentration of the IgG3 subtype in the blood circulation.


name: Moderately reduced left ventricular ejection fraction

description: A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.


Nephrogenic rest

description: Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.


name: Decreased proportion of CD3-positive T cells

description: Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.


Calcified amorphous tumor of the heart

description: A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.


Aplasia of the premaxilla

description: Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.


name: Abnormal glomerular mesangium morphology

description: An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.


name: Abnormal urine sebacic acid concentration

description: Abnormal concentration of sebacic acid in the urine.


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


name: Skin fragility with non-scarring blistering


Elevated myocardial iron load

description: Increased amount of iron in myocardial tissue.


Mesangial immunotactoid deposits

description: Extracellular mesangial aggregates composed of non-branching fibrils, focally parralel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.


Nodular mesangiosclerosis

description: Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.


Hypoammonemia

description: A decreased concentration of ammonia in the blood.


Abnormal urine protein level

description: Any deviation of the concentration of one or more proteins in the urine.


Gastric perforation

description: A full-thickness injury of the wall of the stomach.


Antiphospholipid antibody positivity

description: The presence of circulating autoantibodies to phospholipids.


name: Congenital malformation of the left heart

description: Defect or defects of the morphogenesis of the left heart identifiable at birth.


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

description: Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.


multifocal atrial tachycardia

description: Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.


name: Decreased CD25 upregulation upon TCR activation

description: Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).


renal artery atheroma

description: A atherosclerosis that involves the renal artery.


Microdontia

description: Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.


Ejection click

description: A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.


Hypoplastic spleen

description: Underdevelopment of the spleen.


name: Focal cognitive seizure with expressive dysphasia/aphasia

description: A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.


Diffuse pancreatic islet hyperplasia

description: Hyperplasia of the islets of Langerhans with a generalized distribution.


Distal lower limb amyotrophy

description: Muscular atrophy of distal leg muscles.


Rectal 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 rectum.


heart lipoma

description: A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue.


Sclerosis of foot bone

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


Hypoplasia of the vestibular nerve

description: Underdevelopment of the vestibular nerve.


Bronchocentric granulomatosis

description: Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.


Decreased CSF neopterin level

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


name: Abnormal circulating beta-C-terminal telopeptide concentration

description: A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.


name: Focal impaired awareness motor seizure with dysarthria/anarthria

description: A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.


Hip contracture

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


name: Anterior predominant subcortical band heterotopia

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


name: Decreased circulating GABA concentration

description: A decrease in the level of GABA in the serum.


Testicular adrenal rest tumor

description: Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.


Increased CSF uracil concentration

description: An increased level of uracil in the cerebrospinal fluid.


name: Impaired thromboxane A2 agonist-induced platelet aggregation

description: Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.


name: Intimal thickening in the coronary arteries


Decreased facial expression reciprocity

description: Decreased mirroring or reflection of facial expressions in another person during social interactions, compared to the person's normal behavior.


name: Abnormality of the urinary system physiology


Ocular pruritus

description: Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.


Unilateral renal atrophy

description: A unilateral form of atrophy of the kidney.


ovarian teratoma

description: A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor.


Increased level of xylitol in urine

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


name: Elevated circulating long-chain acylcarnitine concentration

description: Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),


name: Reduced number of intrahepatic bile ducts

description: The presence of reduced numbers of intrahepatic bile duct than normal.


Handgrip myotonia

description: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.


Spermatocele

description: A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.


Reduced imaginative play skills

description: Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).


name: Abnormal circulating histidine concentration

description: An abnormality of a histidine metabolic process.


Narrow uvula

description: Decreased width of the uvula.


Cigarette-paper scars

description: Thin (atrophic) and wide scars.


Patchy sclerosis of 4th toe phalanx

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


Abnormal mandible morphology

description: Any abnormality of the mandible, the bone of the lower jaw.


name: Nodular subcortical heterotopia in peritrigonal regions

description: Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.


Absent pigmentation of the abdomen

description: Lack of skin pigmentation (coloring) of the abdomen.


myelocystocele

description: Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.


Preductal coarctation of the aorta

description: Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.


name: Focal sensory seizure with auditory features

description: A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.


name: Elevated CSF myelin basic protein concentration

description: The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Anti-perilipin-1 antibody positivity

description: The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).


cerebral degeneration

description: A neurodegenerative disease that involves the telencephalon.


Dilated left subclavian artery

description: Abnormally increased caliber of the left subclavian artery.


Abnormal dental root morphology

description: An abnormality of the dental root.


Abnormal blood oxygen level

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


Abnormal fetal physiology

description: Any functional anomaly of the fetus.


Ventricular arrhythmia

description: A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.


Impaired neck-righting reflex

description: Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.


name: Decreased cervical spine flexion due to contractures of posterior cervical muscles


description: A granuloma located in the lung that is not associated with necrotic changes.


Advanced eruption of teeth

description: Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.


Dermatan sulfate excretion in urine

description: An increased concentration of dermatan sulfate in the urine.


name: Disorganization of the anterior cerebellar vermis


Abnormal T cell count

description: A deviation from the normal count of T cells.


name: Compound muscle action potential amplitude facilitation

description: Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.


Thistle tube shaped pulp

description: A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.


cystic disease of lung

description: The presence of multiple lung cysts.


Increased CSF ribitol concentration

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


External carotid artery calcification

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


Abnormal keratinocyte morphology

description: Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.


Purulent rhinitis

description: Chronic rhinitis accompanied by pus formation.


Benign genitourinary tract neoplasm

description: A non-malignant neoplasm of the genitourinary system.


Anti-ryanodine receptor antibody

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


Abnormal sexual behavior

description: An explicit or perceived action, demonstration, conduct, or language (verbal and written) of a sexual nature that goes against generally accepted norms, rules, and procedures. It is considered unacceptable within the context in which it occurs, or it may be both culturally acceptable and atypical/uncommon.


choroid plexus cyst

description: Solitary or multiple cysts within the fetal choroid plexus that frequently spontaneously resolve antenatally and do not usually have postnatal sequelae.


Elevated urine D-lactate level

description: The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.


Focal orofacial automatism seizure

description: A type of focal automatism seizure characterized by orofacial automatisms at onset.


Frontal hirsutism

description: Excessive amount of hair growth on forehead.


Duodenal atrophy

description: Wasting or decrease in size of all or part of the duodenum.


name: Perimembranous ventricular septal defect

description: A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.


Rectal abscess

description: A collection of pus in the area of the rectum.


Hypoplasia of fetal nasal bone

description: On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).


name: Supraventricular tachycardia with a manifest accessory pathway on the septum


Abnormal circulating renin

description: A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.


Ankle weakness

description: Reduced strength of the muscles that lift or otherwise move the foot at the ankle.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


Recurrent cutaneous fungal infections

description: Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.


Abnormal epiphysis morphology

description: An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.


Atrichia

description: The most dramatic and severe form of hair loss characterized by an absence of hair follicles.


Bleeding with minor or no trauma

description: Significant bleeding or hemorrhage without significant precipitating factor.


Abnormal cranial ganglion morphology

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


name: Elevated circulating dihydrothymine concentration

description: An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.


Hemiplegia/hemiparesis

description: Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.


name: Focal cognitive seizure with hallucination

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


Abnormal spleen morphology

description: Any anomaly of the structure of the spleen.


name: Elevated CSF dihydrobiopterin concentration

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


Abnormality of the urachus

description: Abnormality of the urachus.


EEG with 4-5/second background activity

description: EEG background activity at 4-5/second.


Fatigable weakness of neck muscles

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


name: Focal aware cognitive seizure with neglect

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


Enamel hypomineralization

description: A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Streaks of hyperkeratosis along each finger onto the palm


Perifollicular fibrosis

description: Presence of excess fibrous connective tissue surrounding hair follicules.


Anti-reticulin antibody positivity

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


CNS hypermyelination

description: Increased amount of myelin in the central nervous system.


name: Abnormal circulating calcitonin concentration

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


Increased circulating palmitate level

description: An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.


Asherman syndrome

description: Adhesions or scar tissue that form inside the cavity of the uterus.


Chronic tubulointerstitial nephritis

description: Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.


Increased urinary orosomucoid

description: An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


Fetal pericardial effusion

description: An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.


Acute encephalopathy

description: A life-threatening disorder characterized by delirium, seizures, and neuromuscular changes.


Aortic annulus calcification

description: Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.


Palmar warts

description: Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).


Corpus cavernosum hypoplasia

description: A developmental anomaly characterized by undergrowth of the corpus cavernosum.


Fractured hindlimb bone

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


Abnormal medulla oblongata morphology

description: An abnormality of the medulla oblongata, the lower half of the brainstem.


Hypoplastic trochlear nerve

description: Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.


name: Fusiform descending thoracic aortic aneurysm

description: A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall


Dermal translucency

description: An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.


Epigastric pain

description: Pain that is localized to the region of the upper abdomen immediately below the ribs.


name: Decreased glucose-6-phosphate dehydrogenase level in leukocytes

description: A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Precocious puberty with Sertoli cell tumor


Focal perseverative automatism seizure

description: A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.


Short N3 sleep

description: Disruptions in the third stage of NREM sleep.


Persistent viremia

description: Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.


Accessory scrotum

description: Additional scrotum, or part of a scrotum in an abnormal location.


Elevated urinary norepinephrine level

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


name: Focal aware sensory seizure with gustatory features

description: A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.


Breech presentation

description: A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.


Epidermal necrosis

description: Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).


Cardiomyocyte inclusion bodies

description: Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.


Abnormal magnesium concentration

description: An abnormality of magnesium ion homeostasis.


Abnormal circulating properdin level

description: A deviation from the normal concentration of properdin in the blood.


Esophageal stricture

description: A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.


Abnormal endocrine morphology

description: Any anomaly of the structure of an organ ofthe endocrine system.


Abnormal cardiac ventricular function

description: An abnormality of the cardiac ventricular function.


Spinal myoclonus

description: Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.


name: Reduced epidermal collagen VII protein expression


Levotransposition of the great arteries

description: A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.


name: Congenital symmetrical palmoplantar keratosis


name: Abnormal upper-limb motor evoked potentials

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


complement deficiency

description: A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited.


name: Increased circulating argininosuccinic acid

description: An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.


name: Subendothelial glomerular basement membrane electron dense deposits

description: Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.


albinism

description: A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin.


name: Left superior vena cava draining directly to the left atrium

description: A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.


Pink urine

description: An abnormal pink color of urine.


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

description: Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.


Limited repertoire of facial expression

description: An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.


Focal sexual automatism seizure

description: A type of focal automatism seizure characterized by involuntary sexual behavior at onset.


Mild receptive language delay

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


Abnormal proportion of naive B cells

description: A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the 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.


PR segment depression

description: A reduction in voltage of the PR segment below baseline.


Striatal T2 hyperintensity

description: Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.


Bladder polyp

description: An abnormal growth that projects from the mucous membrane of the urinary bladder.


Induced vaginal delivery

description: Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.


Abnormality of the subungual region

description: A lesion located beneath a fingernail or toenail.


name: Proximal/middle symphalangism of 5th toe

description: Bony fusion of the middle and proximal phalanges of the 5th toe.


Temporomandibular joint adhesion

description: Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.


Increased total iron binding capacity

description: An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.


name: Focal impaired awareness sensory seizure with visual features

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


Microcephaly

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


Episodic pain

description: Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.


Aortic medial fibrosis

description: An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).


Maculopapular exanthema

description: A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.


name: Decreased CSF N-acetylaspartic acid concentration

description: Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.


Abnormal renal arteriole morphology

description: Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.


Decreased circulating IgG4 level

description: A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.


Presacral teratoma

description: A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).


Hand tremor

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


Erythematous macule

description: A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.


Focal aware automatism seizure

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


name: Spinocerebellar tract disease in lower limbs


Elevated urine L-alloisoleucine level

description: Abnormally increased level of L-alloisoleucine in the urine.


Hip adductor weakness

description: Reduced ability to bring the leg toward the midline of the body.


Decreased libido

description: Decreased sexual desire.


Sensory hypersensitivity

description: A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.


Osteoporotic metatarsal

description: Decrease in mass and density of the metatarsal bones.


name: Increased proportion of effector memory CD8-positive, alpha-beta T cells

description: An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.


Thumb extension contracture

description: Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.


Postprandial hyperlactemia

description: Abnormally increased level of blood lactate following a meal.


name: Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration

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


name: Renal interstitial immunoglobulin deposits

description: Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).


Wrist pain

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


Prolonged QTc interval

description: A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.


Congenital ichthyosiform erythroderma

description: An ichthyosiform abnormality of the skin with congenital onset.


Type IV atherosclerotic lesion

description: In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.


Alpha-aminobutyric aciduria

description: Increased amount of alpha-aminobutyric acid in the urine.


Thyroid lymphangiectasia

description: The presence of lymphangiectasis of the thyroid gland.


Hypoplastic nasopharyngeal adenoids

description: Underdevelopment of the nasopharyngeal adenoids.


name: Elevated circulating porphyrin concentration

description: Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.


name: Abnormality of extrinsic muscle of tongue


Abnormal tongue morphology

description: Any structural anomaly of the tongue.


name: Reduced circulating acylcarnitine concentration

description: An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.


name: Patchy sclerosis of the distal phalanx of the 2nd finger

description: Uneven (irregular) increase in bone density of the distal phalanx of the second finger.


Decreased urine urobilinogen

description: An abnormally reduced concentration of urobilinogen in the urine.


name: Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine

description: The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.


Preauricular hair displacement

description: An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.


Ecchymosis

description: A purpuric lesion that is larger than 1 cm in diameter.


name: Anti-platelet derived growth factor receptor

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.


Gastric intraepithelial lymphocytosis

description: The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.


name: juvenile type testicular granulosa cell tumor

description: A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells.


Unilateral vestibular schwannoma

description: A unilateral vestibular schwannoma (acoustic neurinoma).


Splenic xanthomatosis

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


Interphalangeal thumb joint contracture

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


Reduced sharing of interests

description: An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.


name: Abnormal urine guanidinoacetic acid level

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


Lip pit

description: A depression located on a lip.


Micrographia

description: Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.


2-3 toe syndactyly

description: Syndactyly with fusion of toes two and three.


Elevated right atrial pressure

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


name: Transient decreased circulating total IgG

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


Heterotopic dermal ossification

description: Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).


name: Elevated circulating glycylproline concentration

description: Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).


Opportunistic fungal infection

description: An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.


Fetal nuchal edema

description: Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.


Pili canaliculi

description: A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.


Cutaneous sclerotic plaque

description: A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).


Red-brown urine

description: An abnormal red-brown color of the urine.


Monomorphic vesicular eruption

description: A type of vesicular eruption in which the vesicles are at same stages.


name: Elevated circulating 3-hydroxyanthranilic acid concentration

description: The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.


urticaria, aquagenic

description: Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success.


Hepatic agenesis

description: Absence of the liver owing to a failure of the liver to develop.


Abnormal metabolism

description: An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.


Achilles tendonitis

description: Inflammation of the Achilles tendon.


facial nerve disorder

description: A disease involving the facial nerve.


Elevated urine octanoic acid level

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


Hypoplasia of the olfactory bulb

description: Underdevelopment of the olfactory bulb.


Phobia

description: Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.


Abnormal thrombosis

description: Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).


name: Increased circulating heparan sulfate level

description: An abnormal increase in the concentration of heparan sulfate in the blood.


Sudden unexpected death in epilepsy

description: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.


Functional abnormality of the inner ear

description: An abnormality of the function of the inner ear.


name: Linear IgG deposits along the epidermal basement membrane zone

description: Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.


Absent uvula

description: Lack of the uvula.


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


Anti-GlyR antibody

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


Esophageal duplication

description: A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.


name: Absent right sided atrioventricular connection

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


Bence Jones Proteinuria

description: The presence of free monoclonal immunoglobulin light chains in the urine.


Atrial septal hypertrophy

description: An abnormal increase in the thickness of the atrial septum.


name: Proximal/middle symphalangism of 3rd finger

description: Fusion of the proximal and middle phalanges of the 3rd finger.


Positive lupus band test

description: Deposits of immunoglobulins and complement components along the dermoepidermal junction.


name: Substantia nigra dopaminergic neuron loss

description: Degeneration and loss of neruons in the substantia nigra of the brain.


Inflexible adherence to routines

description: A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.


Fixated interests

description: Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).


Basilar artery calcification

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


Abnormal ovarian physiology

description: Any anomaly of ovarian function.


neuroblastic tumor

description: A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells.


Acrocyanosis

description: Bluish discoloration of the skin of the hands or feet.


name: Abnormality of frontal process of maxilla

description: An abnormality of a frontal process of the maxilla bone.


Premature atrial contractions

description: A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.


Bent sperm flagella

description: The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.


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

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


name: Hypothalamic gonadotropin-releasing hormone deficiency


Mild albuminuria

description: The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).


name: Interlobular vein intima/media multilamellation

description: Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.


Severe sensorineural hearing impairment

description: A severe form of sensorineural hearing impairment.


Peripheral arterial calcification

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


name: Impaired epinephrine-induced platelet aggregation

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


Pulmonic valve myxoma

description: A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.


Palpable purpura

description: A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).


Unicuspid aortic valve

description: The presence of an aortic valve with one instead of the normal three cusps (flaps).


Vocal cord paresis

description: Decreased strength of the vocal folds.


Bilateral intracerebral calcifications

description: Deposition of calcium salts on both sides of the cerebrum.


name: Aplasia cutis congenita of midline scalp vertex


name: Abnormal thyroid-stimulating hormone level

description: Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.


High posterior hairline

description: Hair on the neck extends less inferiorly than usual.


name: Bilateral single transverse palmar creases

description: The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.


Episodic fatigue

description: Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.


atresia of urethra

description: Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.


Subarterial ventricular septal defect

description: A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.


paranasal sinus neoplasm

description: A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.


Animal dander allergy

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


name: Increased circulating complement factor H related protein 1 concentration

description: Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.


name: Elevated circulating 3-hydroxybutyric acid concentration

description: Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.


chylous ascites

description: Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain.


name: Focal aware cognitive seizure with illusion

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


name: Focal impaired awareness cognitive seizure

description: A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.


Asymmetric growth

description: A growth pattern that displays an abnormal difference between the left and the right side.


Urinary mulberry cells

description: Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.


Peripheral hypermyelination

description: Increased amount of peripheral myelination.


Sparse anterior scalp hair

description: Decreased number of head hairs per unit area on the anterior region of the scalp.


Herpetiform vesicles

description: Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.


Cognitive fatigue

description: A failure to sustain attention that requires self-motivation to optimize performance.


Fetal abdominal cyst

description: Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.


Precocious puberty in males

description: The onset of puberty before the age of 9 years in boys.


Prolonged central motor conduction time

description: Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.


Anti-pituitary antibody positivity

description: Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.


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


EEG with temporal focal spike waves

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


name: Abnormal circulating enzyme concentration

description: The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.


name: Abnormal circulating hyaluronic acid concentration

description: A deviation from the normal concentration of hyaluronic acid in the blood.


name: Focal sensory seizure with cephalic sensation

description: A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.


Recurrent cystitis

description: Repeated infections of the urinary bladder.


Hyperplasia of the Leydig cells

description: Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.


Anti-thyroglobulin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.


Parasite allergy

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


metachromasia of fibroblasts

description: Increased cytoplasmic staining of fibroblasts with toluidine blue.


Polygonal renal calices

description: An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).


Cutaneous anergy

description: Inability to react to a delayed hypersensitivity skin test.


Reduced progressive sperm motility

description: A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.


name: Impaired cortisol response to insulin stimulation test

description: Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).


Uterine prolapse

description: The presence of prolapse of the uterus.


Onychogryposis

description: Nail that appears thick when viewed on end.


name: Hyperdynamic left ventricular ejection fraction

description: An abnoramlly increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.


Fractured metacarpus skeleton

description: A partial or complete breakage of the metacarpus skeleton.


Widow's peak

description: Frontal hairline with bilateral arcs to a low point in the midline of the forehead.


Abnormal HDL2a concentration

description: Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.


name: Dust particle inclusion in alveolar macrophages

description: Accumulation of inhaled, nondigestable particles in macrophages.


Abnormal blood potassium concentration

description: An abnormal concentration of potassium.


Long term memory impairment

description: A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).


Neutrophilic infiltration of the skin

description: A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).


Foot osteomyelitis

description: An infection of bone of the foot.


name: Calcification of the small brain vessels

description: Deposition of calcium salts within small blood vessels of the brain.


Enamel pearls

description: Small nodules of enamel on the root of a tooth.


Stroke-like episode

description: No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.


Left ventricular thrombus

description: A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.


Abnormal glomerular filtration rate

description: An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.


inner ear neoplasm

description: A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma.


Increased inflammatory response

description: A abnormal increase in the inflammatory response to injury or infection.


Abnormal consumption behavior

description: Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.


Coronary ostial atresia

description: Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.


Anterior pituitary agenesis

description: Absence of the anterior pituitary gland resulting from a developmental defect.


Weakness of muscles of respiration

description: Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.


name: Paresis of extensor muscles of the big toe


Joint swelling

description: The presence of swelling in a joint.


Decreased urinary 3-methylhistidine

description: Decreased concentration of 3-methylhistidine in the urine.


name: Osteolytic defects of the phalanges of the 3rd toe


Anti-aquaporin 4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.


name: Complete right sided absence of pericardium

description: No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.


name: Abnormal circulating protein concentration

description: An abnormal level of a circulating protein in the blood.


Absent palatine bone ossification

description: Lack of formation of the palatine bone.


Arteria lusoria

description: Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.


name: Delayed somatosensory central conduction time

description: An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).


Olivopontocerebellar hypoplasia

description: Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.


Galactosuria

description: Elevated concentration of galactose in the urine.


Myoclonic absence seizure

description: Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.


Experiential epileptic aura

description: Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.


Coronary artery fistula

description: A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.


Prenatal double bubble sign

description: Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.


Abnormal urinary mineral level

description: An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.


Segmental hypoplasia of liver

description: Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.


Hydroureter

description: The distention of the ureter with urine.


Hepatic focal nodular hyperplasia

description: Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.


name: Cortical radial artery intima/media arteriosclerosis

description: Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.


Palmar hyperkeratosis

description: Abnormal thickening of the skin localized to the palm of the hand.


name: Polymorphic and polytopic ventricular extrasystoles


Fatigable weakness of chewing muscles

description: A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.


name: Elevated circulating o-phosphoethanolamine concentration

description: An increased concentration of o-phosphoethanolamine in the blood circulation.


Gastric volvulus

description: A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.


Migrating focal seizure

description: A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.


Elevated urinary inosine level

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


name: Anti-contactin-associated protein 1 antibody positivity

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


name: congenital pulmonary airway malformation

description: An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size.


name: Milky appearance of bronchoalveolar lavage fluid

description: Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.


name: Abnormal circulating collagen degradation product concentration

description: Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.


name: Translamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.


name: Increased urinary disaccharide excretion

description: Increased concentration of disaccharide in the urine.


name: Elevated urinary 2-oxovaleric acid level

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


Abnormality of abdominal situs

description: An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.


Lack of insight

description: Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an indviduals's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.


Pharyngeal edema

description: Abnormal accumulation of fluid leading to swelling of the pharynx.


enuresis

description: An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years).


Patchy sclerosis of toe phalanx

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


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

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


Reflex asystolic syncope

description: A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.


Hypoamylasemia

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


Tendon xanthomatosis

description: The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).


name: Yellow subcutaneous tissue covered by thin, scaly skin


name: Cerebellar ataxia associated with quadrupedal gait

description: The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).


name: Diminishment of comfort with casual physical contact

description: A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.


Peripheral edema

description: An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.


Lymphangiosarcoma

description: A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.


Abnormal midbrain morphology

description: An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.


name: Elevated circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.


name: Abnormal level of platelet-activating factor


Factor X activation deficiency

description: Reduced ability to transform factor X into its activated form factor Xa.


Absent toenail

description: Congenital absence of the toenail.


Amyelia

description: Congenital absence of the spinal cord.


Abnormality of premolar

description: An abnormality of premolar tooth.


Fluctuating hepatomegaly

description: Intermittently increased size of the liver.


name: Abnormality of the hypothalamus-pituitary axis

description: Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.


Anti-factor XIII antibody positivity

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


Toenail dysplasia

description: An abnormality of the development of the toenails.


Oral bleeding

description: Bleeding originating from the mouth.


Increased proportion of memory T cells

description: An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.


Neonatal electro-clinical tonic seizure

description: Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.


Cystathioninemia

description: An increased concentration of cystathionine in the blood.


myelitis

description: An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence.


Hypomature dental enamel

description: A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.


name: Elevated urinary N-carbamyl-beta-aminoisobutyric acid level

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


name: Inappropriately normal thyroid-stimulating hormone level

description: A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.


name: Thyrotoxicosis with toxic multinodular goiter


Papillary dermal edema

description: Swelling due to fluid acculuation of the papillary dermis.


name: Increased CSF N-acetylaspartic acid concentration

description: An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).


Aorto-right ventricular tunnel

description: The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.


name: Abnormal circulating heparan sulfate level

description: An abnormal level of heparan sulfate in the blood.


Dysuria

description: Painful or difficult urination.


name: Anti-glutamic acid decarboxylase antibody positivity

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


name: Chromosomal breakage induced by ionizing radiation

description: Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.


Thyroid hyperplasia

description: Hyperplasia of the thyroid gland.


Proprioceptive-induced seizure

description: A seizure precipitated by movement or a change in posture.


Increased skull ossification

description: An increase in the magnitude or amount of ossification of the skull.


Knee flexion contracture

description: A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.


name: Anti-salivary protein antibody positivity

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


hyperacusis

description: A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds.


Pineal gland calcification

description: Accumulation of calcium salts in the pineal gland.


posterior pituitary gland neoplasm

description: A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma.


name: Elevated brain N-acetyl aspartate level by MRS

description: An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


2-5 toe syndactyly

description: Syndactyly with fusion of toes two to five.


Carnosinuria

description: An increased concentration of carnosine in the urine.


name: Hypertension associated with pheochromocytoma

description: A type of hypertension associated with pheochromocytoma.


Saccular abdominal aortic aneurysm

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


Abnormal perceptual state

description: Temporary alteration of the awareness of reality or self-perception.


Anti-ganglioside antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.


pseudobulbar palsy

description: A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.


Defective B cell differentiation

description: Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.


name: Absent microvilli on the surface of peripheral blood lymphocytes

description: Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.


Progressive distal muscle weakness

description: Progressively reduced strength of the distal musculature.


Anti-bicaudal D2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.


tongue disorder

description: A disease involving the tongue.


Self-injurious behavior

description: Self-aggression.


Reduced antral follicle count

description: A count of antral follicles that is lower than normal for age.


Focal impaired awareness clonic seizure

description: A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.


Abnormal speech rhythm

description: Speech with abnormal rhythm or pattern


Hypoganglionosis

description: Sparse and small myenteric ganglia


Mesangiolysis

description: Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.


Reduced maximal expiratory pressure

description: A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.


Encysted hydrocele of the cord

description: A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.


Eruptive xanthomas

description: Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.


name: Cardiac total anomalous pulmonary venous connection

description: Type 2 total anomalous pulmonary venous connection.


name: Fractured proximal phalanx of pedal digit 1

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


Anti-class II HLA antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).


Abnormal male germ cell morphology

description: A structural anomaly of a male reproductive cell.


Fetal oral mass

description: A swelling or enlargment localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.


Claw hand deformity

description: An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.


Altman type III sacrococcygeal teratoma

description: A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.


name: Persistent asymmetrical tonic neck reflex

description: Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.


Anterior open-bite malocclusion

description: Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.


Atherosclerotic lesion

description: A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from teh development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.


Skip lesions on temporal artery biopsy

description: Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.


Proximal hyperreflexia

description: Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).


Generalized seborrheic dermatitis

description: Seborrheic dermatitis that is not localized to any one particular region.


name: Increased proportion of CD8-positive, alpha-beta TEMRA T cells

description: An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.


name: Increased circulating lactate concentration

description: Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).


Skin pit

description: A small, skin-lined tract that leads from the surface to deep within the tissues.


Abnormal endocrine physiology

description: Any anomaly of the function of the endocrine system.


Abnormal cardiomyocyte morphology

description: Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.


Bowel incontinence

description: Involuntary fecal soiling in adults and children who have usually already been toilet trained.


Nevus flammeus of the forehead

description: Naevus flammeus localized in the skin of the forehead.