Stratum basale cleavage

description: Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.


Suprabasal cleavage

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

description: Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.


Ductus venosus agenesis

description: A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).


Third trimester onset

description: This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond.


Second trimester onset

description: This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive).


Late first trimester onset

description: This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive).


name: Abnormal CSF homovanillic acid concentration

description: Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


name: Increased CSF homovanillic acid concentration

description: Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.


name: Abnormal iduronate sulfatase concentration


Decreased iduronate sulfatase level

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


name: Decreased circulating C1-esterase inhibitor concentration

description: Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.


name: Abnormal fetal central nervous system morphology

description: An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


name: Abnormal fetal gastrointestinal system morphology

description: An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Fetal intracranial hemorrhage

description: Abnormal bleeding inside the skull (cranium) of a fetus.


Fetal subependymal hemorrhage

description: A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.


Fetal intraventricular hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.


Fetal cerebral parenchymal hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.


Fetal extra-axial hemorrhage

description: A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).


Fetal posterior fossa hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.


name: Fetal intraventricular hemorrhage without ventriculomegaly

description: A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.


Fetal cerebellar hemisphere hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.


Fetal cerebellar vermis hemorrhage

description: A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.


name: Sonographic non-visualized fetal bladder

description: Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.


name: Fetal intraventricular hemorrhage with ventriculomegaly

description: A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.


name: Fetal intraventricular hemorrhage with periventricular hemorrhage

description: A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.


Temporal lobe megalencephaly

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


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.


Temporal lobe dysplasia

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


Elevated umbilical artery pulsatility

description: Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.


name: Absent end-diastolic umbilical artery flow

description: An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.


name: Reversed end-diastolic umbilical artery flow

description: An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).


Champagne cork sign

description: Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.


Aortic isthmus hypoplasia

description: A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.


Proximal aortic arch hypoplasia

description: A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.


Distal aortic arch hypoplasia

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


Inferior crossed fused renal ectopia

description: A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).


Sigmoid kidney

description: A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.


Unilateral lump kidney

description: A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.


Disc kidney

description: A type of cross fused renal ectopia in which kidneys fuse along their medial borders.


L-shaped kidney

description: A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.


Superior crossed-fused renal ectopia

description: A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.


Open neural tube defect

description: A type of neural tube defect that is not covered by skin.


Closed neural tube defect

description: A type of neural tube defect that is covered by skin.


Renal vein thrombosis

description: The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.


Fetal neck mass

description: An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.


name: Abnormal fetal genitourinary system morphology

description: An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Abnormal fetal pulmonary morphology

description: An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.


Gastric pseudomass

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


Fetal scalp mass

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


Increased fetal lens echogenicity

description: Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.


Severe influenza infection

description: An unusually severe infection by an influenza virus.


Fetal nuchal edema

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


Abnormal corneal reflex

description: An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.


Absent corneal reflex

description: Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.


Eosinophil nuclear hypersegmentation

description: An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.


Face of the giant panda sign

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


Colovesical fistula

description: An aberrant, pathological communication between the colon and the bladder.


Absent dermoepidermal hemidesmosomes

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


C4 nephritic factor positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.


Aplasia/Hypoplasia of the midbrain

description: Absence or underdevelopment of the midbrain (mesencephalon).


Hypoplasia of the midbrain

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


Aplastic zygomatic arch

description: Developmental defect characterized by the absence of the zygomatic arch.


Aplasia/Hypoplasia of facial bones

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


Absent lanugo

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


Abnormal vaginal bleeding

description: Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.


Postcoital vaginal bleeding

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


Mastalgia

description: Pain in the breast.


Vaginal bleeding during sex

description: Bleeding during sex.


Pelvic pain

description: Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.


Abnormal vaginal physiology

description: Any anomaly of vagina function.


Serrated incisors

description: Incisor teeth with irregular edges said to resemble a saw.


Copper beaten skull

description: Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.


Perifoveal hypoautofluorescence

description: Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.


Premature sagging cheeks

description: Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.


Gastrointestinal ulcer

description: A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.


name: Elevated circulating thymidine concentration

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


name: Elevated circulating deoxyuridine concentration

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


Multinucleated erythroblast

description: Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.


2,8-dihydroxyadenine crystalluria

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


Target cells

description: Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.


Phalangeal cone-shaped epiphyses

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


Subcutaneous ossification

description: Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.


name: Increased fecal protoporphyrin concentration

description: Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.


Recurrent gingivitis

description: Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.


Enteroviral encephalitis

description: Inflamation of the brain related to infection by an enterovirus.


name: Elevated circulating reverse T3 concentration

description: Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.


Elevated circulating rT3/T3 ratio

description: An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.


name: Elevated circulating tiglylglycine concentration

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


name: Elevated circulating creatine concentration

description: An elevation above the normal range of creatine in the blood circulation.


name: Reduced circulating creatine concentration

description: An reduction below the normal range of creatine in the blood circulation.


Temporal lobe calcification

description: The presence of calcium deposition within the temporal lobe of the brain.


Ductal bile plugs

description: Bile thrombi that form an obstruction (plug) in a dilated bile duct.


Reduced cerebral white matter volume

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


name: Elevated urine 3,5,6-trichloro-2-pyridinol level

description: Detection of 3,5,6-trichloro-2-pyridinol in the urine.


name: Elevated circulating tetracosanoic acid concentration

description: Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.


name: Elevated circulating hexacosanoic acid concentration

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


Sertoli cell-only phenotype

description: A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.


name: Decreased acid sphingomyelinase activity

description: Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.


Congenital pouch colon

description: A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.


Megalopapilla

description: A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.


Notched T wave

description: A bifid T-wave with a notch duration between the 2 peaks at leasy 0.04 sec and an amplitude at least 0.05 mV.


Epsilon wave

description: An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.


2:1 atrioventricular block

description: A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.


Ventricular bigeminy

description: An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.


name: Elevated left ventricular end-diastolic diameter

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


Prolonged P wave

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


Multiflagellar spermatozoa

description: Spermatozoa with multiple flagella attached to the sperm head.


Post-vaccination yellow fever

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


Hypoplastic optic chiasm

description: Developmental defect characterized by undergrowth of the optic chiasm.


Nocturnal hypoxemia

description: Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.


name: Hyperdynamic left ventricular ejection fraction

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


name: Abnormal left ventricular ejection fraction

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


Chronic cough

description: A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.


name: Thinning of the substantia nigra pars compacta

description: Reduced volume of pars compacta of the substantia nigra.


Unusual virus reactivation

description: Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.


name: CNS vasculitis with reactivation of varicella-zoster virus

description: A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.


name: Muscle fiber intracytoplasmic reducing inclusion bodies

description: Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.


name: Elevated circulating guanidinoacetic acid concentration

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


Reduced galactocerebrosidase activity

description: Diminished enzyme activity of galactocerebrosidase.


name: Reduced circulating growth hormone concentration

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


Brachiocephalic artery aneurysm

description: An abnormal widening (dilatation) of the brachiocephalic artery


Common carotid artery aneurysm

description: An abnormal widening (dilatation) of the common carotid artery.


name: Posterior corneal stroma punctiform multicolored opacities

description: Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.


Fibro-obliterative bile-duct lesion

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


Dysplastic megalencephaly

description: A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.


Regional right ventricular hypokinesis

description: Decreased range of right ventricular motion in a portion of the right ventricle of the heart.


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.


Cognitive regression

description: Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.


name: Increased circulating hypoxanthine concentration

description: Elevated concentration of hypoxanthine in the blood circulation.


Claw hand deformity

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


Trapezius muscle aplasia

description: A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).


Greater auricular nerve thickening

description: Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.


Supravalvar pulmonary stenosis

description: A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.


Valvular pulmonary stenosis

description: A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.


Bile duct polyp

description: An elevated growth from the the mucosa of the bile duct.


Appendicular spasticity

description: A type of spasticity that affects one or more limbs (arms or legs).


Trichoschisis

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


White cerebellum sign

description: On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.


name: Impaired renal tubular reabsorption of low molecular weight protein

description: Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.


name: Impaired renal tubular reabsorption of glucose

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


name: Impaired renal tubular reabsorption of sodium

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


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.


Action myoclonus

description: A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.


Redundant umbilical skin

description: Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.


Dull foveal reflex

description: Reduced brigthness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.


Corneal pterygium

description: Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.


name: Fibrofatty replacement of right ventricular myocardium

description: Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.


name: Elevated circulating alpha-aminoadipic semialdehyde concentration

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


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: Decreased circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


name: Decreased level of coenzyme Q10 in skeletal muscle

description: Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.


name: Abnormal muscle tissue metabolite concentration


name: Reduced circulating prekallikrein concentration

description: Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.


External tibial torsion

description: External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .


Trident acetabulum

description: Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.


Spherophakia

description: Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.


Atrioventricular valve regurgitation

description: Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.


name: Single atrioventricular valve regurgitation

description: Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.


Urethrovesical occlusion

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


Central nervous system axonal spheroid

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


Disease remission

description: A decrease in or disappearance of signs and symptoms typically associated with a disease course.


name: Elevated circulating biliverdin concentration

description: Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.


name: Elevated circulating insulin:C-peptide ratio

description: Increased ratio of insulin to C-peptide in the blood circulation.


name: Abnormal left ventricular endsystolic diameter

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


name: Reduced left ventricular endsystolic diameter

description: A lower than normal left ventricular endsystolic diameter.


Bacterial encephalitis

description: Encephalitis caused by bacterial infection.


Hilar lymph node enlargement

description: Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).


Pulmonary vein varix

description: Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.


Decreased CSF glycine concentration

description: Abnormally decreased levels of glycine in cerebrospinal fluid.


Elbow contracture

description: A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.


Joint contracture

description: A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.


Elbow extension contracture

description: An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.


Forearm supination contracture

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


Forearm pronation contracture

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


Hippocampal malrotation

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


Claw toe deformity

description: Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.


Toe deformity

description: Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.


Prolonged central motor conduction time

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


name: Circumferential skin creases on extremities

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


Fungal hyphae in sputum

description: Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.


Enlarged tectum

description: Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.


name: Elevated CSF angiotensin-converting enzyme concentration


name: Reduced circulating 3-ketoacyl-CoA thiolase concentration

description: Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.


Solitary angiokeratoma

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


Angiokeratoma circumscriptum naeviforme

description: A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present asa multile reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.


Laryngeal mass

description: A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.


Palate mass

description: A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.


Thick oral frenulum

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


Tooth avulsion

description: A type of dental trauma characterized by total dislocation of the tooth from its socket.


Torn oral frenulum

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


Intraoral laceration

description: A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.


Erythematous oral mucosa

description: An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.


Mitral chordae tendinae rupture

description: Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.


History of cardiovascular procedure

description: Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient.


Ejection click

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


Clicking tinnitus

description: A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.


Reduced hair sulfur content

description: Abnormally low amount of sulfur in hair.


Purulent eye discharge

description: Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.


Megaloblepharon

description: Disproportionately large eyelids


Bacteria in cerebrospinal fluid

description: Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.


Joint crepitus

description: A popping, clicking or crackling sound that accompaniees movement of a joint.


Abnormal communication

description: Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.


Abnormal eye contact

description: Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.


Gaze avoidance

description: A deliberate avoidance of eye contact.


Excessive eye contact

description: Tendency to maintain sustained eye contact for an inappropriately long period of time.


name: Decreased circulating aspartic acid concentration

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


name: Abnormal circulating erythropoietin concentration

description: Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


name: Reduced circulating erythropoietin concentration

description: Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.


description: Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.


Reduced gamma-glutamyltransferase level

description: Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.


name: Elevated circulating histamine concentration

description: Increased concentration of histamine in the blood circulation.


name: Increased circulating interleukin 18 concentration

description: An increased concentration of interleukin-18 in the blood circulation.


name: Abnormal phytanic acid:pristanic acid ratio

description: Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


name: Increased phytanic acid:pristanic acid ratio

description: An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


name: Decreased phytanic acid:pristanic acid ratio

description: A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.


Rectovesical fistula

description: An aberrant, pathological communication between the rectum and the bladder.


Rectoureteral fistula

description: An abnormal connection (fistula) between the rectum and the ureter.


Hypoplastic umbilicus

description: Underdevelopment of the umbilicus.


Arachnoid granulation

description: Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.


Increased CSF taurine concentration

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


name: Elevated circulating glutathione concentration

description: An abnormally increased level of glutathione in the blood circulation.


Hawkinsinuria

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


name: Elevated urinary phenylpyruvic acid level

description: An abnormally increased amount of phenylpyruvic acid in the urine.


Increased CSF uracil concentration

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


Elevated urine kynurenine level

description: An abnormally increased amount of kynurenine in the urine.


name: Increased CSF L-alloisoleucine concentration

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


Hydroxylysinemia

description: An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.


Homocitrullinuria

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


2-hydroxyadipic aciduria

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


Homoargininuria

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


Increased urinary cysteine level

description: An increased concentration of cysteine in the urine.


Gastric xanthoma

description: Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.


Decreased stool elastase level

description: Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.


Elevated stool chloride content

description: Elevated amount of chloride in the stool.


name: Increased fecal coproporphyrin III:coproporphyrin I ratio

description: Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.


Increased fecal harderoporphyrin

description: Abnormally high concentration of harderoporphyrin in feces.


Increased fecal heptacarboxylporphyrin

description: Abnormally high concentration of heptacarboxylporphyrin in feces.


Increased fecal pentacarboxylporphyrin

description: Abnormally high concentration of pentacarboxylporphyrin in feces.


Increased fecal isocoproporphyrin

description: Abnormally high concentration of isocoproporphyrin in feces.


name: Positive fecal Clostridium botulinum test

description: Identification of Clostridium botulinum toxin in the feces.


Perihepatic adhesions

description: Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.


Dilated vas deferens

description: Abnormal increase in diameter (expansion) of the vas deferens.


Enlarged epididymis

description: Abnormal increase in the size of the epididymis.


Atypical gestures

description: Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.


Bone marrow vacuolated lymphocytes

description: The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.


Spinal cord calcifications

description: The presence of calcium deposition in the spinal cord.


Neuroepithelial cyst

description: A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.


name: Reduced circulating interleukin 7 concentration

description: A diminished concentration of interleukin-7 in the circulation.


name: Increased circulating interleukin 12 concentration

description: An increased concentration of interleukin-12 in the blood circulation.


name: Increased circulating interleukin 13 concentration

description: An increased concentration of interleukin-13 in the blood circulation.


name: Increased circulating interleukin 2 concentration

description: An increased concentration of interleukin-2 in the blood circulation.


name: Increased circulating interleukin 4 concentration

description: An increased concentration of interleukin-4 in the blood circulation.


name: Increased circulating interleukin 5 concentration

description: An increased concentration of interleukin-5 in the blood circulation.


Tubo-ovarian abscess

description: A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.


Opacified paranasal sinuses

description: White appearance (radio-opaqueness) of a paranasal sinus on radiography.


Elevated brain glutamine level by MRS

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


Abnormal brain glutamine level by MRS

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


Increased urinary hexanoic acid level

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


Hepatic focal nodular hyperplasia

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


Increased bone marrow iron

description: An increased amount of iron in the bone marrow.


Glenoid fracture

description: A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.


Widened mediastinum

description: Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm.


Narrow mediastinum

description: Abnormal decrease in the width of the mediastinum.


Ovarian torsion

description: Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.


Septate gallbladder

description: Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.


Gallbladder wall thickening

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


Gallbladder enlargement

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


Gallbladder mass

description: An abnormal lesion or swelling seen on gallbladder imaging.


Fingerprint bodies

description: Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.


Spheroid bodies

description: An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.


name: Abnormal muscle tissue enzyme activity or level

description: Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.


Reduced muscle aconitase activity

description: Diminished activity of the enzyne aconitase in muscle tissue.


name: Increased circulating Interferon-alpha concentration

description: An elevation in the concentration of interferon alpha measured in the blood circulation.


Liver hamartoma

description: A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.


Pretibial hyperpigmentation

description: Darkening of the area of skin that overlies the shin.


Gingival fragility

description: Gums that are easily damaged.


name: Muscle fiber fuchsinophilic inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.


name: Esophageal myenteric plexus degeneration

description: Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.


Periorificial hyperkeratosis

description: Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.


Eosinophilic lymph node infiltration

description: Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).


Blood parasite

description: Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.


Bloodstream trypomastigotes

description: Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.


name: Abnormal enzyme activity in muscle tissue

description: Deviation from the normal activity of an enzyme in muscle tissue.


name: Reduced muscle phosphoglycerate kinase activity

description: Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.


name: Reduced fibroblast type III procollagen synthesis

description: Diminished production of type III procollagen by cultured skin fibroblasts.


name: Reduced muscle myoadenylate deaminase activity

description: Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.


Bent long bone

description: A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the metaphysis (shaft) of the bone.


Tracheal rupture

description: A break or tear in the trachea.


Increased myocardial glycogen content

description: Elevated amount of glycogen in the myocardium.


Reduced bone-marrow megakaryocyte size

description: Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.


Hairshafts with longitudinal grooves

description: Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.


Mycobacterium bacteremia

description: Presence of viable mycobacteria in the blood.


name: Decreased delta-aminolevulinate dehydratase activity

description: Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.


name: Elevated circulating pancreatic secretory trypsin inhibitor activity

description: Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.


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.


Intraluminal meconium calcification

description: Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.


Portal vein hypoplasia

description: A developmental defect characterized by underdevelopment of hte portal vein.


Adrenal leiomyoma

description: Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries


name: Small intestinal lymphoplasmacytic infiltrate

description: Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.


Abnormal peroxisomal morphology

description: Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.


Absence of peroxisomes

description: Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.


Paucity of peroxisomes

description: Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.


name: Reduced sulfide:quinone oxidoreductase activity

description: Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.


Rhabdoid tumor of the ovary

description: A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.


Cardiac rhabdoid tumor

description: A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.


Malignant rhabdoid tumor of the bladder

description: A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.


Malignant rhabdoid tumor of liver

description: A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.


Malignant rhabdoid tumor of muscle

description: A malginant rhabdoid tumor (MRT) originating in muscle tissue.


Neck teratoma

description: A teratoma located in the neck.


Kidney teratoma

description: A teratoma located in a kidney.


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.


name: Aplasia of posterior communicating artery

description: A developmental anomnaly characterized by the lack of development of the posterior communicating artery.


Optic pit

description: A developmental anomaloy characterized by congenital excavation of the optic nerve head.


Thickened intrahepatic portal venules

description: Increased width of the vascular wall of portal venules within the liver.


Ovarian fibrosis

description: Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.


Pigment incontinence

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


name: Reduced epidermal keratin 10 protein expression

description: Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.


name: Reduced epidermal collagen IV protein expression


name: Reduced epidermal bullous pemphigoid antigen 1 protein expression

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


name: Reduced epidermal collagen VII protein expression


name: Reduced epidermal collagen XVII protein expression


name: Reduced epidermal integrin alpha6beta4 protein expression


name: Reduced epidermal plectin protein expression


Bloodstream Trypanosoma cruzi

description: Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.


Abnormal lymph node cell composition

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


Lipid-laden lymph node macrophages

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


Abnormal pancreatic acinus morphology

description: Structural anomal of pancreatic acinus.


Cochlear nerve hypoplasia

description: A developmental defect characterized by underdevelopment of the cochlear nerve.


Glutathionuria

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


Nevus psiloliparus

description: Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.


Crypt hyperplasia

description: Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling.


name: Increased circulating dehydroepiandrosterone-sulfate concentration

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


name: Abnormal circulating thyroxine-binding globulin concentration

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


name: Decreased circulating thyroxine-binding globulin concentration

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


name: Elevated circulating beta-aminoisobutyric acid concentration

description: An increased concentration of beta-aminoisobutyric acid in the blood circulation.


name: Elevated circulating dihydrouracil concentration

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


name: Elevated circulating dihydrothymine concentration

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


name: Elevated circulating N-carbamoyl-beta-alanine concentration

description: An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.


name: Elevated ciculating 5-hydroxymethyluracil concentration

description: An increased concentration of 5-hydroxymethyluracil in the blood circulation.


Decreased CSF creatinine concentration

description: Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.


Elevated urinary creatine level

description: An increased amount of creatine in the urine.


name: Decreased circulating biotin concentration

description: Concentration of biotin in the blood circulation below the lower limit of normal.


name: Elevated circulating thrombopoietin concentration

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


Decreased circulating C1q concentration

description: Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.


name: Decreased circulating apolipoprotein A-II concentration

description: Concentration of apolipoprotein A-II below the lower limit of normal.


name: Elevated circulating CA19-9 concentration

description: Concentration of CA19-9 above the upper limit of normal.


Elevated circulating DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.


Elevated CSF DOPA concentration

description: Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.


name: Elevated circulating porphyrin concentration

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


name: Decreased circulating 17-hydroxyprogesterone concentration

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


name: Decreased circulating transcobalamin II concentration

description: Concentration of transcobalamin II in the blood circulation below the lower limit of normal.


Polychromasia

description: Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.


name: Decreased circulating myo-inositol concentration

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


name: Elevated circulating arabinitol concentration

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


Elevated urine arabitol level

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


Elevated urine erythritol level

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


name: Elevated circulating erythritol concentration

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


name: Reduced circulating matrix metalloproteinase 2 concentration

description: Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.


name: Abnormal circulating coenzyme concentration

description: Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.


name: Elevated circulating S-adenosyl methionine concentration

description: Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.


name: Abnormal circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.


name: Decreased circulating membrane cofactor protein concentration

description: Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.


name: Elevated circulating membrane cofactor protein concentration

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


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.


Adrenal xanthomatosis

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


Splenic xanthomatosis

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


Spinal cord xanthomatosis

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


Brain xanthomatosis

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


Pulmonary xanthomatosis

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


Bone marrow xanthomatosis

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


Lymph node xanthomatosis

description: Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.


Xanthoma of bone

description: Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.


Exogenous androgen exposure

description: History of having been treated with an exogenous androgen medication.


Reduced muscle enolase activity

description: Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.


Dopamine antagonist exposure

description: History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine.


name: Muscle fiber granulofilamentous inclusion bodies

description: The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.


Bone marrow myeloid vacuolization

description: Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.


Pulmonary cylindroma

description: A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.


Colonic fibrinopurulent exudate

description: Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.


Bloodstream microfilaria

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


Skin infectious agent

description: The presence of an infectious agent in the skin.


Dermal microfilaria

description: Presence of filariae in the skin.


Dermal papillary IgA deposition

description: Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.


Dermal immune complex deposition

description: Accumulation of antigen-bound antibody in the skin.


Abnormal liver metabolite concentration

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


Hepatic polyglucosan accumulation

description: Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.


Urinary bladder neurofibroma

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


Synovial granuloma

description: An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).


Elevated urine fumaric acid level

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


name: Elevated urine N-acetylaspartic acid level

description: The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.


Elevated urine suberylglycine level

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


name: Elevated urine phenylpropionylglycine level

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


Elevated urine octenedioic acid level

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


Monocarboxylic aciduria

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


Elevated urine octanoic acid level

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


Elevated urine glutaconic acid level

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


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.


Elevated urine malonic acid level

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


Elevated urine propionylglycine level

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


Elevated urine tiglylglycine level

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


name: Elevated urine 2-methylacetoacetic acid level

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


name: Elevated urine 3-hydroxypropionic acid level

description: Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.


name: Elevated urine 2-methylcitric acid level

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


name: Elevated urine 4-hydroxyisovaleric acid level

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


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

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


Shoulder contracture

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


Shoulder extension contracture

description: Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).


Thumb extension contracture

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


Tongue myxoma

description: A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.


Abnormal knee morphology

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


Abnormal knee physiology

description: A functional anomaly of the knee joint.


Knee contracture

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


Knee extension contracture

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


Abnormal ankle morphology

description: A structural anomaly of the ankle.


Abnormal ankle physiology

description: A functional anomaly of the ankle.


Toe joint contracture

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


Extension contracture of toe

description: A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Finger joint contracture

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


Extension contracture of finger

description: A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.


Reduced muscle telethonin level

description: Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.


name: Abnormal enzyme concentration or activity

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


name: Abnormal liver enzyme activity or concentration

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


Reduced hepatic urocanase activity

description: Activity of urocanase in the liver below the lower limit of normal.


Impaired cerebroside sulfate hydrolysis

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


name: Reduced peroxisomal glutaryl-CoA oxidase activity

description: Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.


Reduced sterol 27-hydroxylase activity

description: Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.


name: Reduced short-chain acyl-CoA dehydrogenase activity

description: Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.


name: Reduced 3-phosphoglycerate dehydrogenase activity

description: Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.


Elongated mitochondria

description: Increase in length of mitochondria.


name: Reduced hepatic methionine adenosyltransferase activity

description: Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.


name: Substantia nigra dopaminergic neuron loss

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


Cutaneous telangiectasia

description: Dilated blood vessels on the skin.


Abnormal aromatase activity

description: Aromatase activity outside of the normal range.


Elevated aromatase activity

description: Enzyme activity of aromatase above the upper limit of normal.


Reduced aromatase activity

description: Enzyme activity of aromatase below the lower limit of normal.


Corneal amyloidosis

description: A form of amyloidosis that is located in the cornea.


Abnormal keratinocyte morphology

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


Keratinocyte vacuolization

description: Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.


Parotid gland adenocarcinoma

description: An adenocarcinoma that arises from the parotid gland.


Pulmonary vasculitis

description: Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.


name: Reduced hepatic D-glycerate kinase activity

description: Activity of D-glycerate kinase in the liver below the lower limit of normal.


Lymph-node hemophagocytosis

description: Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.


Superior pubic ramus hypoplasia

description: Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).


Uterine adenofibroma

description: A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.


Peripheral axonal distension

description: An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).


name: Decreased circulating alpha-mannosidase activity

description: Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.


Abnormal hepatocyte morphology

description: A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.


name: Hepatic melanin-like lysosomal pigmentation

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


name: Reduced uroporphyrinogen decarboxylase activity

description: Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.


Reduced heme oxygenase activity

description: Activity of the enzyme heme oxygenase below the lower limit of normal.


name: Swollen achromatic neurons in the cerebral cortex

description: The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.


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.


Lack of oocyte pronucleus formation

description: An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.


Self-healing squamous epithelioma

description: A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.


name: Elevated circulating pristanic acid concentration

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


Sarcoplasmic bodies

description: Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.


name: Elevated CSF hydroxyproline concentration


Reduced CSF cystine concentration

description: Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.


name: Abnormal circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


name: Elevated circulating beta-mannosidase activity

description: Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.


name: Reduced circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.


name: Abnormal circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.


name: Elevated circulating alpha-L-fucosidase activity

description: Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.


name: Elevated circulating S-adenosyl-L-homocysteine concentration

description: Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.


name: Elevated circulating S-adenosyl-L-methionine concentration

description: Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.


description: Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.


name: Elevated CSF argininosuccinic acid concentration

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


name: Elevated CSF aspartylglucosamine concentration

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


name: Elevated circulating alpha-oxoadipic acid concentration

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


name: Abnormal erythrocyte metabolite concentration

description: A deviation from the normal range of a metabolite in red blood cells.


name: Reduced erythrocyte glutathione concentration

description: Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.


Elevated CSF sarcosine concentration

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


Reduced CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.


name: Elevated circulating homoarginine concentration

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


name: Elevated urinary formiminoglutamic acid level

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


Elevated CSF proline concentration

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


Elevated urinary S-sulfocysteine level

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


name: Elevated circulating S-sulfocysteine concentration

description: Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.


Sertoli cell hyperplasia

description: Abnormal increase in the number of Sertoli cells in the testis.


CSF infectious agent

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


CSF mycobacteria

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


Fungal bloodstream infection

description: Detection of a fungal organism (such as candida or coccidioides) in the blood stream.


Supraclavicular lymphadenopathy

description: Enlarged lymph node located just above the clavicle (collarbone).


Inguinal lymphadenopathy

description: Enlarged lymph node located in the inguinal region (groin).


Axillary lymphadenopathy

description: Enlarged lymph node located in the axillary region (armpit).


Positive Murphy sign

description: Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.


Bilious emesis

description: Vomiting whereby the vomit has the color of bile, yellowish-green.


Fetal exposure history

description: A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance.


Fetal barbiturate exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to barbiturate medications such as phenobarbital. Barbiturates are used medically as anxiolytics, hypnotics, and anticonvulsants.


Fetal narcotic exposure

description: A history of exposure during pregnancy of the mother of a fetus or child to narcotic medications such as morphine or codeine. Narcotics are used medically to treat moderate or severe pain.


name: Reduced epidermal extracellular matrix protein 1 protein expression

description: Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.


Neurofibroma by anatomical location

description: Neurofibroma categorized according to the anatomical site of origin.


Tongue neurofibroma

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


Gastric neurofibroma

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


Renal neurofibroma

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


name: Muscle fiber polyglucosan inclusion bodies

description: Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.


Abnormal rete ridge morphology

description: Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.


Rete ridge elongation

description: Increased length of the rete rdiges of the epidermis.


Lumbar hypolordosis

description: Flattening of a curve in the spine in the lumbar (lower back) region.


Battle sign

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


Decreased skull base length

description: Reduced anterioposterior dimension of the skull base.


Oscillopsia

description: A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).


Decreased blink rate

description: The frequency with which the eye is blinked is below the lower limit of normal.


Abnormal blink rate

description: A deviation from the normal frequency of blinking the eye.


Elevated blink rate

description: The frequecy with which the eye is blinked is above the upper limit of normal.


Purulent sputum

description: Sputum contains pus.