Excess residual spermatozoal cytoplasm

description: Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.


name: Complete duplication of the distal phalanx of the 4th toe

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

description: Complete duplication of the distal phalanx of fourth toe.


Thalamic arteriovenous malformation

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


Delayed myelination

description: Delayed myelination.


glossodynia

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

description: Painful sensations in the tongue, including a sensation of burning.


name: Triangular epiphysis of the distal phalanx of the 5th toe


Elevated urine 3-hydroxyglutaric level

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


Interhypothalamic adhesion

description: An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.


name: Unilateral multifocal epileptiform discharges

description: Epileptiform discharges being identified at multiple locations in one hemisphere.


Enlarged labia minora

description: Increase in size of the folds of skin between the outer labia.


name: Bullet-shaped distal phalanx of the 3rd toe

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


Motor impersistence

description: The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.


Abnormal cranial nerve morphology

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


Blistering by histological location

description: Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.


Craniofacial cleft

description: Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.


aceruloplasminemia

description: An adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.


Elevated CSF dopamine concentration

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


Sulfocysteinuria

description: A increased concentration of sulfocysteine in the urine.


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

description: Partial or complete duplication of distal phalanx of third toe.


Recurrent bacterial meningitis

description: An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.


Hyponatriuria

description: An abnormally decreased sodium concentration in the urine.


Age of death

description: The age group when the cessation of life happens.


Hypomature enamel

description: Enamel with a white or brown discoloration without hypoplasia.


Subcutaneous hemorrhage

description: This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).


adrenocortical insufficiency

description: An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency).


name: Focal impaired awareness autonomic seizure with pupillary dilation/constriction

description: A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.


Connective tissue nevi

description: Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.


name: Cortical radial artery lumen cholesterol emboli

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


Right atrial enlargement

description: Increase in size of the right atrium.


name: Abnormal arcuate artery endothelium morphology

description: Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.


Renal tubular karyomegaly

description: Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.


Abnormal dermis morphology

description: A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.


name: Complete duplication of the distal phalanx of the hallux


Abnormality of the cochlear nerve

description: Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.


Elevated myocardial native T2

description: Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.


obstructive hydrocephalus

description: An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space.


name: Impaired renal tubular reabsorption of phosphate

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


Cystocele

description: Anterior vaginal wall prolapse with bulging of the bladder into the vagina.


Curved proximal phalanx of the 5th toe

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


Malrotation of small bowel

description: A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.


Pterygium of nails

description: Inward advance of skin over the nail plate.


Pronoun reversal

description: Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.


Male anorgasmia

description: Inability of a male to reach orgasm.


glutaric aciduria

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


oral hairy leukoplakia

description: An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy.


Tarsal stippling

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


name: Osteoarthritis of the small joints of the hand


Congenital defect of the pericardium

description: A developmental defect of the pericardium with congenital onset.


Convulsive status epilepticus

description: A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.


hypopigmentation of the skin

description: A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections.


progressive bulbar palsy

description: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.


Dyskinesia

description: A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


name: Abnormal concentration of acylcarnitine in the urine

description: An abnormal amount of acylcarnitine in the urine.


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 a carotid artery.


Receptive aphasia

description: A type of aphasia that is characterized by impaired language comprehension.


name: Symphalangism affecting the phalanges of the 5th toe


Neonatal electro-clinical seizure

description: Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.


Macronodular cirrhosis

description: A type of cirrhosis characterized by the presence of large regenerative nodules.


EMG: myokymic discharges

description: The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.


Scapular exostoses

description: The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.


Abnormal brainstem morphology

description: An anomaly of the brainstem.


echolalia

description: A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song.


Angioma serpentinum

description: Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.


Renal intratubular casts

description: Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.


name: Focal impaired awareness motor seizure with paresis/paralysis

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


hydroa vacciniforme

description: A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas.


Multiple central nervous system lipomas

description: The presence of multiple lipomas located in the central nervous system.


Lack of bowel sounds

description: Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.


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

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


Paroxysmal ventricular tachycardia

description: Episodes of ventricular tachycardia that have a sudden onset and ending.


Chylopericardium

description: Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.


Alpha-gal allergy

description: Hypersensitivity in form of an adverse immune reaction against alpha-gal.


Abnormal medullary pyramid morphology

description: A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


name: Elevated urinary delta-aminolevulinic acid

description: An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.


Increased body weight

description: Abnormally increased body weight.


Pulmonary bleb

description: A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.


Decreased urinary potassium

description: A decreased concentration of potassium(1+) in the urine.


Focal cortical dysplasia type IIa

description: A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.


saccharopinuria

description: Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria.


Multiple biliary hamartomas

description: Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.


Absence of the third cerebral ventricle

description: A developmental defect characterized by the absence of the third ventricle.


Abnormal temporal lobe morphology

description: An abnormal strcutural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.


name: Bicuspid aortic valve with left-noncoronary cusp fusion

description: A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.


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

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.


name: Elevated urinary 3-hydroxypentanoic acid level

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


femoral agenesis/hypoplasia

description: Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.


Focal aware epileptic spasm

description: A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.


Grandiosity

description: Exaggerated feelings of self-importance, superiority, uniqueness, or invulnerability.


Eyelid myokymia

description: Involuntary, fine, continuous, undulating contractions of the eyelid.


Cerebrospinal fluid erythrocytes

description: The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes).


Reduced social reciprocity

description: A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.


Microcolon

description: A colon of abnormally small caliber.


Cortical radial artery hypercellularity

description: Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Midsystolic murmur

description: A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.


Phlebolith

description: A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.


Dens in dente

description: An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.


Reduced cooperative imaginative play

description: Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventerous scenarios.


name: Reduced circulating acetylcarnitine concentration

description: Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.


Personality changes

description: An abnormal shift in patterns of thinking, acting, or feeling.


macrodactyly of toes

description: A type of Macrodactyly affecting one or several toes.


Bullet-shaped hallux phalanx

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


Acute cutaneous wound

description: A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.


name: Triangular epiphysis of the distal phalanx of the 3rd toe


name: Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal


Transthyretin cardiac amyloidosis

description: A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.


Pes valgus

description: An outward deviation of the foot at the talocalcaneal or subtalar joint.


Renal medullary pyramid hypoplasia

description: Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.


fourth cranial nerve palsy

description: A cranial nerve palsy that involves the trochlear nerve.


name: Triangular shaped middle phalanges of the toes


Ureter fissus

description: A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.


Tyrosinuria

description: An abnormally increased level of tyrosine in the urine.


name: Abnormal motor nerve conduction velocity


Intratubular myoglobin cast

description: Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.


Abnormal brainstem MRI signal intensity

description: A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.


Nephroptosis

description: A significant descent of the kidney as the patient moves from the supine to the erect position.


name: Increased proportion of marginal zone B cells

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


Elevated CSF biopterin level

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


Short middle phalanx of the 3rd toe

description: Developmental hypoplasia of the middle phalanx of third toe.


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


Complete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.


Increased male libido

description: Increased desire for sexual activity on the part of a male.


Abnormality of the ureter

description: An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.


Limb dysmetria

description: A type of dysmetria involving the limbs.


Pontocerebellar atrophy

description: Atrophy affecting the pons and the cerebellum.


Incomplete breech presentation

description: A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.


osteoid osteoma

description: A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.


pica disease

description: An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.


Abnormal sperm motility

description: An anomaly of the mobility of ejaculated sperm.


Hyporeflexia

description: Reduction of neurologic reflexes such as the knee-jerk reaction.


name: Ductus venosus agenesis with intrahepatic drainage

description: A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis.


Pulp obliteration

description: Mineralized substance filling the entire dental pulp space.


Cholesterol gallstones

description: Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.


humeroradial synostosis

description: Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.


name: Osteolytic defects of the proximal phalanx of the 4th toe


skin tag

description: A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.


name: Symphalangism affecting the middle phalanx of the 5th toe


name: Recurrent lower respiratory tract infections

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


Focal myoclonic seizure

description: A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.


Apathy

description: Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed.


Increased CSF D-threitol concentration

description: The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.


name: Glomerular hyalinosis at the tubular pole

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.


hemarthrosis

description: Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia.


Decreased patellar reflex

description: Decreased intensity of the patellar reflex (also known as the knee jerk reflex).


Abnormal sperm physiology

description: Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.


Abnormal gallbladder physiology

description: A functional anomaly of the gallbladder.


name: Abnormal urinary nucleobase concentration

description: A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).


canker sore

description: A type of stomatitis that is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. It is a recurrent disease of the oral mucosa of unknown etiology.


Subchorionic septal cyst

description: Cyst on the surface of the placenta consisting of amnion and chorion.


Increased CSF aspartate concentration

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


Upslanting toenail

description: Upturned concavity of toenails.


Poorly formed metencephalon

description: A morphological abnormality of the metencephalon.


Pericardial late gadolinium enhancement

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


Absent fingernail

description: Absence of a fingernail.


name: EEG with photoparoxysmal response grade IV

description: Occurrence of generalized epileptiform discharges during photic stimulation.


Carotid artery tortuosity

description: Abnormal tortuous (i.e., twisted) form of the carotid arteries.


name: Non-convulsive status epilepticus without coma

description: A type of status epilepticus without prominent motor symptoms in the absence of coma.


Cortical nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).


name: Renal tubular epithelial cell hemosiderin

description: Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.


Hepatic xanthomatosis

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


Perinephric abscess

description: A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).


Sense of impending doom

description: A feeling that something life-threatening or tragic is about to occur.


Generalized cerebral atrophy/hypoplasia

description: Generalized atrophy or hypoplasia of the cerebrum.


Ureteral hypoplasia

description: Underdevelopment of the ureter.


name: Anomalous origin of coronary artery from the pulmonary artery

description: A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.


Prostate mass

description: A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.


name: Renal interstitial necrotizing granulomas

description: An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.


Female sexual dysfunction

description: A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity


name: Abnormal nonverbal communicative behavior

description: Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.


Moyamoya phenomenon

description: A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.


Iron accumulation in substantia nigra

description: An anomalous build up of iron (Fe) in the substantia nigra.


name: Glomerular hyalinosis away from the vascular and tubular poles

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.


status asthmaticus

description: An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators.


reading disorder

description: A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process.


Absent ankle pulse

description: The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.


Snowball lesion of corpus callosum

description: Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.


Cardiovascular calcification

description: Abnormal calcification in the cardiovascular system.


Cardiac valve vegetations

description: Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.


name: Abnormal tricuspid chordae tendinae morphology

description: Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.


trachea neoplasm

description: A neoplasm (disease) that involves the trachea.


Abnormal urine pH

description: A deviation of urine pH from the normal range of 4.5 to 7.8.


Urethral atresia, male

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


name: Post-angioplasty coronary artery restenosis


Avulsion fractured epiphysis of femur

description: A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.


omphalitis

description: Inflammation of the umbilical cord stump in newborns.


name: Complete duplication of the proximal phalanx of the 5th toe

description: Complete duplication of the proximal phalanx of fifth toe.


Severe oligozoospermia

description: A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.


Bidirectional shunt

description: Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.


Wolff-Parkinson-White syndrome

description: A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.


Glomerular hyalinosis

description: Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.


Bifid scrotum

description: Midline indentation or cleft of the scrotum.


name: Abnormality of the epiphysis of the distal phalanx of the 3rd toe


name: Circumferential skin creases on extremities

description: Ringed creases of the skin of the extremities related to folding of excess skin.


name: Focal impaired awareness emotional seizure with laughing

description: Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.


congenital laryngeal web

description: Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.


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


Bacteria allergy

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


thyroid hormone resistance syndrome

description: An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine.


Urogenital sinus anomaly

description: A rare birth defect in women where the urethra and vagina both open into a common channel.


osteoblastoma

description: A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.


Atrioventricular reentrant tachycardia

description: Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.


T-wave inversion

description: An inversion of the T-wave (which is normally positive).


Focal aware behavior arrest seizure

description: A focal behavior arrest seizure characterized by retained awareness throughout the seizure.


name: Arcuate vein intimal/medial storage material accumulation

description: Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.


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

description: A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.


Recurrent maladaptive behavior

description: A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.


recurrent hypersomnia

description: Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320)


Fractured radius

description: Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken.


Fatigable weakness of bulbar muscles

description: A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) 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.


Tubulonodular pericallosal lipoma

description: A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.


Abnormal premolar morphology

description: An abnormality of morphology of premolar tooth.


name: Symphalangism affecting the middle phalanx of the 2nd toe


syndactyly

description: A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms.


name: Glomerular endothelial tubuloreticular inclusion

description: Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.


Ornithinuria

description: Level of ornithine in the urine above the upper limit of normal.


personality disorder

description: A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work.


Medullary nephrocalcinosis

description: The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).


polydactyly of a biphalangeal thumb

description: Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left.


distal symphalangism

description: Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.


Elevated urine mevalonic acid level

description: An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.


Dry skin

description: Skin characterized by the lack of natural or normal moisture.


name: Decreased growth hormone responses to growth hormone-releasing hormone challenge

description: Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.


Increased QRS voltage

description: Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).


cerebellar degeneration

description: Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders.


Secretory adrenocortical adenoma

description: An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.


Absent abdominal reflex

description: Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.


Focal tonic seizure

description: A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.


multiple mucosal neuroma

description: Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.


Generalized arterial calcification

description: Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.


Focal aware autonomic seizure

description: A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.


Ivory epiphyses of the 2nd toe

description: Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.


name: Non-restrictive ventricular septal defect

description: Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.


Enlarged amygdala

description: A increase in the volume (size) of the amygdyla.


Abnormality of the palmar creases

description: An abnormality of the creases of the skin of palm of hand.


46,XY disorder of sex development

description: Differences of sex development in individuals with 46,XY karyotype.


pulmonary valve agenesis

description: Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424


methylmalonic acidemia

description: A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.


Abnormal speech rate

description: Speech that is abnormally fast or slow


Abnormal urine carbohydrate level

description: Any deviation from the normal concentration of a carbohydrate in the urine.


Pharyngeal myxoma

description: A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.


inherited threoninemia

description: An increased concentration of threonine in the blood.


Increased urinary zinc level

description: An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.


Curved toe phalanx

description: A deviation from the normal straight form of one or more toe phalanges.


name: Intralamellar mucoid extracellular matrix accumulation

description: A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.


Auditory sensory seeking

description: Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.


Neonatal focal myoclonic seizure

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


name: Sensorimotor polyneuropathy affecting arms more than legs


Bifid ureter

description: Incomplete duplication of the ureter.


Motor tics

description: Movement-based tics affecting discrete muscle groups.


Lethargy

description: A state of disinterest, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.


Abnormal metencephalon morphology

description: An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.


name: EEG with generalized slow activity grade 1

description: Slowing at frequencies between 7.5 and 8.5 Hz.


neuroendocrine neoplasm

description: Endocrine tumors, also referred to as neuroendocrine tumors (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumors may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumors or for a clinical syndrome caused by abnormal hormone secretion).


inborn glycerol kinase deficiency

description: An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity.


name: polyposis of gastric fundus without polyposis coli

description: Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.


name: Premature coronary artery atherosclerosis

description: Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.


3-hydroxydicarboxylic aciduria

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


Abnormal direction of ventricular apex

description: Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.


nodular cutaneous amyloidosis

description: Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome.


Hernia of the abdominal wall

description: The presence of a hernia in the abdominal wall.


Lumbosacral hemangioma

description: A spinal cord hemangioma located in the lumbosacral spine region.


Neologism

description: Consistent use of an invented word that is unique to an individual.


Acquired abnormal hair pattern

description: An abnormality of the distribution of hair growth that is acquired during the course of life.


Extrahepatic portal hypertension

description: Increased pressure in the pre-hepatic portal vein.


Monorchism

description: Having only one testis in the scrotum.


Focal polymicrogyria

description: Polymicrogyria affecting one or multiple small areas of the cerebral cortex.


name: Abnormal brain choline/creatine ratio by MRS

description: A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).


EEG with series of focal spikes

description: Focal spikes occurring for several seconds.


Phantageusia

description: A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.


name: Aplasia/hypoplasia of the 1st metatarsal

description: Absence or underdevelopment of the first metatarsal bone.


Abnormal motor neuron morphology

description: Any structural anomaly that affects the motor neuron.


Abnormal pineal morphology

description: A structural abnormality of the pineal gland.


Deep white matter hypodensities

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


Phonophobia

description: An abnormally heightened sensitivity to loud sounds.


pituitary tumor

description: A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland.


name: Osteolytic defects of the 1st metatarsal

description: Dissolution or degeneration of bone tissue of the first metatarsal.


Polymenorrhea

description: Frequent menses; menstrual cycles lasting less than 21 days.


Abnormality of hair growth rate

description: Hair whose growth rate deviates from the norm.


polymorphic ventricular tachycardia

description: A ventricular tachycardia that is irregular in rate and rhythm.


Frequent Giardia lamblia infestation

description: Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.


Rheumatoid nodule

description: A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.


name: Abnormal brain N-acetyl aspartate level by MRS

description: A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).


name: Focal impaired awareness myoclonic seizure

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


name: Triangular epiphysis of the proximal phalanx of the 5th toe


name: Abnormal internal carotid artery morphology

description: An abnormality of an internal carotid artery.


fibrous hamartoma of infancy

description: A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern.


name: Focal impaired awareness vocal automatism seizure

description: A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.


erysipelas

description: An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch.


Spasticity

description: A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.


name: Small epiphysis of the proximal phalanx of the hallux


Decreased miniature endplate potentials

description: An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.


EBV encephalitis

description: Inflamation of the brain related to infection by Epstein-Barr virus.


Abnormal hypothalamus morphology

description: Any structural anomaly of the hypothalamus.


name: Osteolytic defects of the phalanges of the 5th toe


Orthostatic syncope

description: Syncope following a quick change in position from lying down to standing.


Prolonged neonatal jaundice

description: Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.


name: Abnormal cortical radial artery endothelium morphology

description: Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.


Probst bundles

description: Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.


ventricular tachycardia

description: A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)


Uterine myxoma

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


CSF polymorphonuclear pleocytosis

description: An increased polymorphonuclear cell count in the cerebrospinal fluid.


Neonatal electrographic only seizure

description: Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.


Elevated urinary uromodulin level

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


Epidermal thickening

description: Thickening of the epidermal layer of the skin.


Glycopeptiduria

description: Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.


Abnormal prosody

description: Abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization.


Abnormal CSF isoleucine concentration

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


name: EEG with hyperventilation-induced epileptiform discharges

description: Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


gynecomastia disorder

description: Development of breast tissue in males.


name: Bilateral tonic-clonic seizure with focal onset

description: A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.


Episodic hemiplegia

description: Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.


Talipes calcaneovalgus

description: Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.


Unexplained fevers

description: Episodes of fever for which no infectious cause can be identified.


Urinary tract atresia

description: Congenital absence of the normal opening of a structure of the urinary tract.


glycine encephalopathy

description: Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity.


name: Double inlet to single ventricle of indeterminate morphology

description: The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.


name: Supraventricular tachycardia with a concealed accessory pathway on the right free wall


prostate calculus

description: A concretion in the prostate.


Urinary hesitancy

description: Difficulty in beginning the process of urination.


name: Excessive bleeding from superficial cuts

description: An abnormally increased degree of bleeding following a superfical injury to the surface of the skin.


name: Focal T2 hypointense basal ganglia lesion

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


Acute esophageal necrosis

description: A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.


optic nerve sheath meningioma

description: A meningioma that affects the sheath of the optic nerve.


name: Elevated circulating 3-hydroxylinoleylcarnitine concentration

description: Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.


Hypoplasia of the midbrain

description: A developmental defect characterized by underdevelopment of the mesencephalon.


Abnormal palate morphology

description: Any abnormality of the palate, i.e., of roof of the mouth.


Atretic vas deferens

description: Abnormal closure or blockage of the vas deferens.


Lack of peer relationships

description: The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.


Hypoplasia of the thymus

description: Underdevelopment of the thymus.


name: Abnormal cardiomyocyte dystrophin staining

description: Anomalous staining of dystrophin in cardiomyocytes.


atrophy of testis

description: Loss of testicular volume.


Trophic limb changes

description: Trophic changes occurring in a limb.


name: Abnormal sperm principal piece morphology

description: A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.


name: Reduced circulating lipoprotein(a) concentration

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


Intradural spinal lipoma

description: Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.


Macroprolactinoma

description: A pituitary prolactin cell adenoma of more than 10 mm diameter.


Olfactory agnosia

description: The inability to recognize certain smells or types of odors that you previously recognized.


name: Aplasia/Hypoplastia of the eccrine sweat glands

description: Absence or developmental hypoplasia of the eccrine sweat glands.


voice disorders

description: A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis.


Type II truncus arteriosus

description: Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.


Stercoral ulcer

description: An ulcer of the colon due to pressure and irritation from retained fecal masses.


central polydactyly of fingers

description: The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.


Abnormal internal genitalia

description: An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).


Glomerular basement membrane wrinkling

description: Irregular folding of the glomerular basement membrane with an intact lamina densa.


name: Anomalous origin of the left circumflex artery from the right coronary artery

description: An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).


pustulosis palmaris et plantaris

description: A chronic inflammatory disorder that generally occurs in adulthood and is characterized by sterile pustules intermingled with scaly erythemas, vesicles and hyperkeratosis occurring at distinct sites on the palms and soles. It is thought to be an autoimmune disorder precipitated by several factors, including local infection, and smoking.


Somatosensory-induced seizure

description: A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.


name: Cortical radial artery intimal mucoid edema

description: Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.


Abdominal obesity

description: Excessive fat around the stomach and abdomen.


isolated familial wooly hair disorder

description: Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair.


name: Abnormality of circulating cortisol level

description: An abnormality of the concentration of cortisol in the blood.


Nailfold capillary tortuosity

description: An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.


Gallop rhythm

description: In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.


Civatte bodies

description: Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant


patent foramen ovale

description: A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes.


Lateral venous anomaly

description: Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.


Erythema

description: Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.


name: Entrapment neuropathy of the ulnar nerve at elbow

description: An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.


name: Decreased circulating free fatty acid level


Vulvar hemangioma

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


name: Pseudoepiphysis of the middle phalanx of the 2nd toe

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.


Autoscopy

description: A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body.


name: Abnormal interpretation of external stimuli

description: Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.


Submandibular lymph node enlargement

description: Increased size of the lymph nodes that are located beneath the mandible (lower jaw).


name: Abnormal cardiovascular system physiology

description: Abnormal functionality of the cardiovascular system.


Sclerosis of 5th toe phalanx

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


Neonatal focal tonic seizure

description: Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.


Pituitary gonadotropic cell adenoma

description: A type of pituitary adenoma that produces gonadotropins.


Vacuolated hepatocytes

description: Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.


atrial standstill

description: Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves.


name: Reduced epidermal bullous pemphigoid antigen 1 protein expression

description: Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.


Dysplastic corpus callosum

description: Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.


Illusions

description: Perceptual experiences that involve misinterpretations or distortions of sensory stimuli.


Agenesis of permanent molar

description: Agenesis of secondary molar tooth.


Unusual infection by anatomical site

description: An unusual infection classified by the affected body part.


Left atrial fibrosis

description: Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.


Curved hallux phalanx

description: A deviation from the normal straight form of one or more phalanges of the big toe.


Abnormality of bone mineral density

description: This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.


progressive osseous heteroplasia

description: A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.


synovitis

description: Inflammation of a synovial membrane.


name: Agenesis of permanent mandibular lateral incisor


Colonic stenosis

description: A narrowing of a segment of colon whereby bowel continuity is maintained.


Abnormal ventricular axis

description: Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.


hypnic headache

description: Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes.


Abnormal dermatoglyphics

description: An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.


Vegetative state

description: The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.


Fat malabsorption

description: Abnormality of the absorption of fat from the gastrointestinal tract.


Abnormal arcuate vein lumen morphology

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


name: Ubiquitin-positive cerebral inclusion bodies

description: Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.


scleroderma

description: Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc).


name: Seizure precipitated by febrile infection

description: Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.


Shortened QT interval

description: Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).


McConnell sign

description: Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.


Hemivertebrae

description: Absence of one half of the vertebral body.


Shuffling gait

description: A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.


Hazardous alcohol use

description: Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.


Neck pterygia

description: Pterygia affecting the neck.


Focal aware pedal automatism seizure

description: A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.


Hypoplastic fifth fingernail

description: A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.


neoplasm

description: A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.


univentricular heart

description: Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities.


name: Focal impaired awareness hemiclonic seizure

description: A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.


Asparaginuria

description: An increased concentration of asparagine in the urine.


name: Impaired visually enhanced vestibulo-ocular reflex

description: The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).


isolated sulfite oxidase deficiency

description: Abnormally reduced sulfite oxidase level.


name: Pseudoepiphysis of the distal phalanx of the 5th toe


Bifid uterus

description: The presence of a bifid uterus.


Abnormal QRS voltage

description: Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).


name: Elevated circulating oleylcarnitine concentration

description: Increased concentration of oleylcarnitine in the blood circulation.


name: Elevated circulating cholesterol sulfate concentration

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


Penile freckling

description: Multiple pigmented macules located on the skin of the penis.


hypertrophic cardiomyopathy 1

description: Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene.


NREM parasomnia

description: A parasomnia that occurs during non-rapid eye movement (NREM) sleep.


name: Irregular septal thickening on pulmonary HRCT

description: Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.


Fractured epiphysis

description: A partial or complete breakage of the epiphysis.


name: Contracture of the metatarsophalangeal joint of the 4th toe

description: The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.


Bowel urgency

description: A sudden, irresistible need to have a bowel movement.


hypersplenism

description: Overactive functioning of the spleen, resulting in excessive destruction of blood cells.


Epistaxis

description: Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.


Sclerosis of 3rd toe phalanx

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


Abnormality of joint mobility

description: An abnormality in the range and ease of motion of joints across their normal range.


name: Intracranial internal carotid artery dissection

description: A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.


name: Aplasia/Hypoplasia of the distal phalanx of the 5th toe


Typical absence seizure

description: A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.


Negativism

description: Opposing or not responding to instructions or external stimuli.


Abnormal sperm neck morphology

description: A structural abnormality of the sperm neck.


Amplification of sexual behavior

description: .An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.


Abnormality of urinary uric acid level

description: Abnormal amount of urate in the urine.


Tics

description: Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.


primary hyperoxaluria

description: A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria.


Cutaneous necrosis

description: Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.


Delayed eruption of permanent teeth

description: Delayed tooth eruption affecting the secondary dentition.


Bullet-shaped middle toe phalanx

description: An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.


Abnormal foot bone ossification

description: An abnormality of the formation and mineralization of any bone of the skeleton of foot.


Spermiation failure

description: Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.


Abnormal urinary uromodulin level

description: The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.


selective IgG immunodeficiency

description: A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity.


Thickened Achilles tendon

description: An abnormal thickening of the Achilles tendon.


Fracture blister

description: Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.


name: Hyperintensity of MRI T2 signal of the spinal cord

description: A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.


name: Aplasia of the proximal phalanx of the 5th toe


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


name: Sonographic renal salt and pepper pattern

description: Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.


Cutis marmorata

description: A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.


Alaninuria

description: An increased level of alanine in the urine.


Cortical peritubular capillaritis

description: Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.


Occipital cortical atrophy

description: Atrophy of the occipital cortex.


Mild proteinuria

description: Mildly increased levels of protein in the urine (150-500 mg per day in adults).


Glomerular pseudocrescent

description: Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.


Abnormal number of permanent teeth

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


name: Renal tubular epithelial cell hyaline droplets

description: Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.


name: Positive Neisseria gonorrhoeae urine nucleic acid test

description: Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction.


Subcutaneous lipoma

description: The presence of subcutaneous lipoma.


name: Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level

description: Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.


Prominent veins on trunk

description: Prominent thoracic and abdominal veins.


Elevated urinary glycolic acid level

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


name: Fragmentation of the epiphyses of the hallux


EEG with generalized slow activity

description: Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).


Class II obesity

description: Obesity with a body mass index of 35 to 39.9 kg per square meter.


Renal cortical hyperechogenicity

description: Increased echogenecity of the kidney cortex.


Neuronal loss in basal ganglia

description: A reduction in the number of nerve cells in the basal ganglia.


Placental infarction

description: Interruption of the blood supply to a portion of the placenta, resulting in ischemic necrosis.


Pulmonary air embolism

description: Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.


Absence of lymph node germinal center

description: Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.


Aplasia of the right hemidiaphragm

description: Congenital absence of the right-sided diaphragm.


name: Aplasia of the distal phalanx of the 5th toe


1-3 toe syndactyly

description: Syndactyly with fusion of toes one to three.


Bridged palmar crease

description: A crease that connects the proximal and distal transverse palmar creases.


Abnormal knee morphology

description: A structural abnormality of the knee joint or surrounding structures.


Elevated CSF beta-alanine concentration

description: The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Increased HDL3b concentration

description: An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.


Increased circulating progesterone

description: An elevated concentration of progesterone in the blood.


name: Steroid-sensitive nephrotic syndrome with infrequent relapses

description: A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.


skin vascular disease

description: A disease that involves the superficial vasculature.


Abnormal placental size

description: A deviation from normal size of the placenta.


name: celiac artery stenosis from compression by median arcuate ligament of diaphragm

description: A vascular compression syndrome attributed to celiac trunk compression by the median arcuate ligament of the diaphragm, with presentations ranging from completely asymptomatic to myriad gastrointestinal symptoms, including chronic abdominal pain (CAP), post-prandial pain, nausea and vomiting, anorexia, early satiety, and subsequently weight loss.


name: Focal aware autonomic seizure with erection

description: A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.


Presence of uterus in 46,XY individual

description: A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.


synovial sarcoma

description: Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name).


Focal manual automatism seizure

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


infantile digital fibromatosis

description: A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions.


Duplicate uterine cervix

description: A congenital developmental defect characterized by the presence of two cervices on the uterus.


lytic metastatic bone lesion

description: Dissolution of bone that particularly involves the removal or loss of calcium.


name: Aplasia/Hypoplasia of the distal phalanges of the toes

description: Absence or underdevelopment of the distal phalanges of the toes.


choreatic disease

description: A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease.


Absent vas deferens

description: Aplasia (congenital absence) of the vas deferens.


name: Reduced brain N-acetyl aspartate level by MRS

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


Abnormal arterial physiology

description: An anomaly of arterial function.


Trifascicular block

description: Abnormal conduction in all three divisions of the intraventricular conducting tissue.


name: Glomerular parietal epithelial cell hypertrophy

description: An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present


Abnormal CSF lactate concentration

description: Abnormal concentration of lactate in the cerebrospinal fluid.


Loud snoring

description: Snoring at a particularly loud or abnormally high volume.


description: Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.


Congenital hydrocele

description: Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.


Fetal megacystis

description: Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.


Equinus calcaneus

description: Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.


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

description: A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.


name: Aplasia/hypoplasia of the proximal phalanx of the 4th toe

description: Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.


Dysphoria

description: A state of feeling very unhappy, uneasy, or dissatisfied.


name: Abnormal dermoepidermal junction morphology

description: Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.


Abnormal layering of muscularis propria

description: Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.


Complex febrile seizure

description: A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.


angular cheilitis

description: Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts.


Hypodipsia

description: Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.


Excessive shyness

description: Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.


Decreased numbers of nephrons

description: A reduction in the count of nephrons per kidney.


name: Bracket epiphysis of the proximal phalanx of the hallux

description: The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.


Abnormality of the calcaneus

description: An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.


Centrilobular emphysema

description: A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.


Arcuate vein lumen organized thrombi

description: Thrombi containg fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.


Copper accumulation in liver

description: An anomalous build up of copper (Cu) in the liver.


name: Ivory epiphysis of the proximal phalanx of the hallux