Left ventricular aneurysm

description: A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.


Boot-shaped cardiac silhouette

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

description: An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.


Hydrosalpinx

description: Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion.


name: Elevated methylhex-dienedioic level by MRS

description: An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).


Perihepatic enhancement

description: Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.


name: Reduced in vitro contracture test threshold

description: The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle.


Reduced F-wave amplitude

description: Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.


Enlarged peroxisomes

description: Abnormal increase in size of peroxisomes.


Adrenocortical hyperplasia

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


name: Lymphocytic infiltration of the parotid gland

description: Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.


Bone marrow granuloma

description: A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.


Neuronal intranuclear inclusion bodies

description: The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.


Pancreatic atrophy

description: Wasting (shrinking) of the pancreas.


name: Decreased pancreatic acinar cell density

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


name: Unesterified cholesterol accumulation in cultured fibroblasts

description: An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).


name: Hepatic lipid-laden macrophage infiltration

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


name: Splenic lipid-laden macrophage infiltration

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


name: Reduced hepatic N-acetylglutamate synthase activity

description: Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal.


Abdominal wall mass

description: An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Tympanic membrane bulging

description: The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.


Lateral neck mass

description: An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Anterior neck swelling

description: Abormal enlargement of the front part of the neck owing to accumulation of fluid.


Uvular swelling

description: Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.


Purulent drainage from Stensen duct

description: Flow of pus (purulence) from the Stensen duct. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth.


Absent otoacoustic emissions

description: Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.


Thickened tympanic membrane

description: The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane.


Filum terminale lipoma

description: Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.


name: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio

description: The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.


name: Anti-soluble liver antigen/liver pancreas antibody positivity

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


name: Anti-thrombospondin type I domain-containing 7A antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.


Antisperm antibody positivity

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


name: Decreased circulating ficolin 3 concentration

description: Concentration of ficolin 3 in the blood circulation below the lower limit of normal.


Abnormal seminal vesicle morphology

description: A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.


Seminal vesicle cyst

description: A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.


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


name: Elevated mitochondrial citrate synthase synthase activity

description: Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal.


name: Reduced muscle lactate dehydrogenase activity

description: Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back.


name: Reduced muscle phosphoglycerate mutase activity

description: Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).


name: Reduced muscle phosphorylase kinase activity

description: Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.


name: Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts

description: Acitivity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.


name: Reduced hepatic glucose-6-phosphatase activity

description: Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal.


name: Reduced hepatic glucose-6-phosphate translocase activity

description: Activity of glucose-6-phosphate translocase in liver below the lower limit of normal.


Cerebrospinal fluid erythrocytes

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


Elevated CSF cholestanol concentration

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


name: Elevated CSF apolipoprotein B concentration

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


name: Elevated CSF myelin basic protein concentration

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


name: Reduced CSF pyridoxal-5'-phosphate concentration

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


Elevated CSF thymine concentration

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


name: Elevated CSF 5-hydroxymethyluracil concentration

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


name: Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration

description: The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Elevated CSF N-carbamyl-beta-alanine concentration

description: The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.


name: Elevated CSF dihydrouracil concentration

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


name: Elevated CSF dihydrothymine concentration

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


name: Elevated circulating Angiotensin-converting enzyme concentration

description: Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.


name: Decreased 3-hydroxyisobutyrate dehydrogenase activity

description: The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.


name: Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity

description: The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.


name: Reduced HMG-CoA lyase activity in cultured fibroblasts

description: Acitivity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.


name: Reduced circulating acyl-CoA oxidase activity

description: The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.


name: Reduced circulating xanthine oxidase activity

description: Activity of the enzyme xanthine oxidase below the lower limit of normal.


name: Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts

description: The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.


Pharyngeal mass

description: An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.


Positive stool occult blood test

description: The presence of hidden (occult) blood in the stool.


Painful defecation

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


Delayed passage of meconium

description: Failure to pass meconium (the first stool following birth) in the first 48 hours of life.


Single second heart sound

description: The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.


name: Elevated aortic transvalvular pressure gradient

description: The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.


name: Failure to increase oxygen saturation on hyperoxia test

description: Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.


High-set nipples

description: Placement of the nipples at a higher than normal location.


Decreased muscle caveolin-3 level

description: The amount of calveolin-3 in muscle tissue is below the lower limit of normal.


name: Abnormal tissue enzyme concentration or activity

description: Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.


Splenic necrosis

description: Cell dealth (necrosis) located in the spleen.


Carcinoid tumor of the pancreas

description: A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).


name: Elevated circulating dihydroxyphenylacetic acid concentration

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


name: Inappropriately low concentration of acetoacetate

description: Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.


name: Iappropriately low concentration of beta-hydroxybutyrate

description: Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.


name: Elevated circulating 3-hydroxybutyryl-carnitine concentration

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


name: Elevated CSF 5-amino-4-imidazolecarboxyamide concentration

description: The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.


name: Elevated circulating tumor necrosis factor alpha concentration

description: The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.


name: Reduced circulating pyrimidine 5-prime-nucleotidase activity

description: The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.


name: Diminished prolactin response to thyrotrophin-releasing hormone stimulation

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


name: Decreased circulating complement component 1s concentration

description: The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal.


name: Reduced circulating cortisol-binding globulin concentration

description: The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.


name: Decreased circulating thyroglobulin concentration

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


name: Elevated circulating granulocyte-macrophage colony-stimulating factor concentration

description: The concentration of granulocyte-macrophage colony-stimulating factor (GM-CSF) in the blood circulation is above the upper limit of normal.


name: Elevated CSF D-2-hydroxyglutaric acid concentration

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


Esophageal mass

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


Synovial fluid crystals

description: The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the joint (synovial) fluid.


Enlarged gastric folds

description: Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.


Gastric intraepithelial lymphocytosis

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


name: Small intestinal intraepithelial lymphocytosis

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


Fetal lung hyperechogenicity

description: Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.


Necrotizing vasculitis

description: A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.


name: Abnormal proximal convoluted tubule morphology

description: Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.


Demonstration of Leishmania in tissue

description: Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis.


name: Pneumocystis cysts in respiratory secretions

description: Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid.


Spinal cord granuloma

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


Impaired folate absorption

description: Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid.


Positive hydrogen breath test

description: Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.


name: Absent circulating immunoglobulin kappa chain

description: Nondetectable kappa chain in the blood circulation.


Pseudoglioma

description: A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.


Papillary dermal edema

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


Fetal tachycardia

description: The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.


name: Elevated urinary 3-hydroxykynurenine level

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


2-oxoadipic aciduria

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


name: Elevated circulating methionine sulfoxide concentration

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


name: Elevated circulating pipecolic acid concentration

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


Elevated urinary pipecolic acid level

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


Elevated CSF saccharopine concentration

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


name: Elevated circulating glycylproline concentration

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


name: Elevated circulating octanoylcarnitine concentration

description: Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.


name: Elevated circulating decanoylcarnitine concentration

description: Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.


2--hydroxyphenylacetic aciduria

description: Increased concentration of 2-hydroxyphenylacetic acid in the urine.


4-hydroxyphenyllactic aciduria

description: Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Elevated urinary beta-alanine level

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


Elevated CSF beta-alanine concentration

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


name: Elevated circulating 2-aminoadipic acid concentration

description: The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.


name: Elevated urinary N-carbamoyl-beta-alanine level

description: The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.


name: Elevated CSF cystathionine concentration

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


name: Elevated urinary gamma-glutamylphenylalanine level

description: The amount of gamma-glutamylphenylalanine level in the urine, when normalized for urine concentration, is above the upper limit of normal.


name: Elevated circulating aspartylglucosamine concentration

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


Elevated urinary saccharopine level

description: The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.


Tectal plate enlargement

description: Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).


Retroperitoneal mass

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


Focal T1 hyperintense brainstem lesion

description: A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.


Deep neck abscess

description: An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.


Epiglottic enlargement

description: Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.


Prevertebral space enlargement

description: Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.


Third cranial nerve thickening

description: Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.


name: Elevated tissue sphingomyelin concentration

description: Concentration of sphoingomyelin in tissues above the upper limit of normal.


Persistent falcine venous sinus

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


name: Snapping sensation at metacarpophalangeal joint

description: A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger.


Forearm

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


Decreased skin turgor

description: Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.


name: Autonomic-voluntary dissociation of facial movements

description: The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).


Jaw mass

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


Preterm premature rupture of membranes

description: PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis.


Thickened Descemet membrane

description: The thickness of the Descement membrane is above the upper limit of normal.


Incomplete right bundle branch block

description: Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.


Spastic monoplegia

description: Spastic weakness found in only one upper or lower extremity.


Mosaic attenuation pattern in lung

description: Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.


Elevated aldosterone:renin ratio

description: The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.


Meteorism

description: An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.


name: Failure to elevate ammonia on ischemic exercise

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


Labile Hypertension

description: Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.


name: Absent axon flare response after intradermal histamine injection

description: The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare.


name: Reduced sympathoneural responses to the cold pressor test

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


Positive stool Giardia antigen test

description: Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detect sintact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.


Cardiac valve vegetations

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


Thoracic cage flatness

description: The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph.


Absent zona pellucida

description: Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).


Umbilical cord prolapse

description: The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part).


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

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


Elevated urinary thymine level

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


name: Elevated urinary indoleacetic acid level

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


name: Reduced hepatic phosphorylase kinase activity

description: Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.


name: Reduced hepatic ornithine transcarbamylase activity

description: Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal.


Elevated urinary quinolinic acid level

description: The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.


Rectal duplication

description: A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.


Thinned small intestinal mucosa

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


Seminal vesicle hypoplasia

description: A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.


Small fetal abdominal circumference

description: The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.


Prenatal flattened diaphragm

description: The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).


Snowflake effect in amniotic cavity

description: Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis.


Thickened mitral valve cusp

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


Antiparietal cell antibody positivity

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


name: Anti-intrinsic factor antibody positivity

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


name: Anti-human immunodeficiency virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the human immunodeficiency virus (HIV).


Anti-polio virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of poliovirus.


Anti-NR2A antibody positivity

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


Antistreptolysin O antibody positivity

description: The presence of antibodies in the blood circulation that react against streptolysin O.


name: Reduced tissue tissue AICAR transformylase activity

description: Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal.


name: Anti-coagulation factor antibody positivity

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


Tachyphagia

description: Excessively rapid eating of food.


name: Reduced tissue argininosuccinate synthetase activity

description: Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.


name: Reduced aspartoacylase activity in cultured fibroblasts

description: Acitivity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.


name: Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts

description: Acitivity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.


name: Reduced tissue medium-chain acyl-CoA dehydrogenase activity

description: Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.


name: Reduced cystathionine beta-synthase activity in cultured fibroblasts

description: Acitivity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.


name: Reduced muscle glycogen phosphorylase activity

description: Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.


name: Reduced muscle 6-phosphofructokinase activity

description: Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.


name: Reduced tissue alpha-N-acetylglucosaminidase activity

description: Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.


name: Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts

description: Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.


name: Blunted aldosterone response to aldosterone suppression test

description: A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.


Flank mass

description: An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.


Synovial cyst

description: A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.


Brown pigmentation of the conjunctiva

description: Deposition of brown pigmentation in the conjunctiva.


Gastrocnemius contracture

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


name: Central thinning of the outer nuclear layer of the retina

description: Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.


name: Sonographic renal salt and pepper pattern

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


name: Ductus venosus agenesis with intrahepatic drainage

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


name: Ductus venosus agenesis with extrahepatic drainage and liver bypass

description: A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.


name: Elevated circulating D-glyceric concentration

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


name: Elevated CSF D-glyceric acid concentration

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


name: Increased circulating interleukin 1beta concentration

description: An increased concentration of interleukin-1beta in the blood circulation.


name: Reduced neutrophil myeloperoxidase activity

description: Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.


Jugular foramen stenosis

description: Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.


Intramural intestinal gas

description: The presence of extraluminal gas within the bowel wall.


name: Delayed scintigraphic gallbladder filling

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


Pancreatic arteriovenous malformation

description: Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.


Anti-perilipin-1 antibody positivity

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


Splenic calcification

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


Short esophagus

description: Abnormal reduction in the length of the esophagus.


Gastric perforation

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


Gastric volvulus

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


name: Elevated circulating soluble CD163 concentration

description: The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.


Positive cold agglutinin test

description: Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.


Anti-D-L antibody positivity

description: The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.


description: The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).


Non-glucose reducing substance in urine

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


name: Elevated urinary succinylaminoimidazole carboxamide riboside level

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


Elevated urine hyaluronic acid level

description: Excessive amount of hyaluronic acid in urine.


name: Elevated urinary methylmalonylcarnitine level

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


name: Elevated urine trihydroxycholestanoic acid level

description: Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.


Elevated CSF ammonia concentration

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


Positive CSF VDRL test

description: An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis.


name: Elevated CSF guanidinoacetic acid concentration

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


CSF oligoclonal immunoglobulin G bands

description: Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).


name: Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration

description: The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Elevated CSF alpha-crystallin B chain concentration

description: The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.


Reduced CSF creatine concentration

description: The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


name: Reduced circulating protein Z concentration

description: The concentration of protein Z in the blood circulation is below the lower limit of normal.


name: Elevated circulating 27-hydroxycholesterol concentration

description: The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.


name: Elevated circulating lysophosphatidylcholine concentration

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


name: Reduced circulating insulin-like growth factor 2 concentration

description: The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis.


name: Decreased circulating nicotinamide adenine dinucleotide concentration

description: The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal.


name: Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration

description: The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.


name: Elevated circulating fibroblast growth factor 23 concentration

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


Reduced CSF asparagine concentration

description: The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Pancreatic mass

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


Small intestine mass

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


Facial nerve compression

description: Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.


Pulmonary perfusion defect

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


Ectopic ureteral orifice

description: Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.


Duplicate uterine cervix

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


Intradural spinal lipoma

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


T2 hyperintense cerebellar lesion

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


Inferior vena cava obstruction

description: Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.


Rheumatoid nodule

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


name: Elevated circulating proinsulin concentration

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


Burning eye sensation

description: A feeling of stinging or irritation of the eyes.


Collarettes

description: Buildup of waxy flesh-colored scales on the margin of the eyelid.


Tympanic membrane bulla

description: Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility.


Kerion

description: Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.


name: Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts

description: Acitivity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.


name: Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts

description: Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.


Glomerular fibronectin deposits

description: Accumulation of fibronectin in the glomerulus.


Renal tubular karyomegaly

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


name: Reduced tissue acetyl-CoA carboxylase activity

description: Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.


Elevated urinary glycolic acid level

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


Elevated urine propionic acid level

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


Elevated urinary butyric acid level

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


Elevated urinary isovaleric acid level

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


name: Elevated circulating alpha-ketoglutarate concentration

description: The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.


name: Elevated circulating ghrelin concentration

description: The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.


name: Reduced criculating stearoylcarnitine concentration

description: The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.


Reduced urinary iodine level

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


name: Increased circulating interleukin 15 concentration

description: The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal.


name: Reduced circulating squalene concentration

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


name: Abnormal circulating interleukin 6 concentration

description: Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.


name: Abnormal circulating interleukin 12 concentration

description: Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.


Elevated blood mercury concentration

description: The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


Elevated blood cadmiun concentration

description: The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


Elevated thallium cadmiun concentration

description: The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.


name: Abnormal circulating CC chemokine concentration

description: The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits.


name: Decreased CSF asialotransferrin to transferrin ratio

description: The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.


Anti-desmocollin antibody positivity

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


Rokitansky-Aschoff gallbladder sinuses

description: Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).


Porcelain gallbladder

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


Gallbladder adhesions

description: Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflamation (cholecystitis).


Bilioduodenal fistula

description: An abnormal connection between the gallbladder and the duodenum.


Pneumobilia

description: Accumulation of gas in the biliary tree.


Ectopic gallstone

description: A gallstone located outside of the gallbladder.


Sleep drunkeness

description: Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls .


Mallory bodies

description: Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.


Sulfur-containing abscess

description: An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.


Retracted tympanic membrane

description: A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).


Ectopic testis

description: Localization of the testis in an anatomic location other than the scrotum.


Cerebral subcortical cyst

description: A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).


Anti-ADAMTS13 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).


Habitual mouth breathing

description: A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.


Squared off shoulders

description: An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square.


Elevated urine mesaconic acid level

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


name: Elevated urine 3-methyladipic acid level

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


Elevated urine D-lactate level

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


name: Elevated CSF alpha-ketoglutarate concentration

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


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

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


Fetal oral mass

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


Dilated ejaculatory duct

description: Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.


name: Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells

description: The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting.


Decreased FOXP3-expressing T cell count

description: The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.


name: Elevated circulating complement component concentration

description: Concentration of a complement component in the blood circulation is above the upper limit of normal.


Anti-beta fodrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.


name: Elevated circulating tetradecenoylcarnitine concentration

description: The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.


name: Elevated urine 2-trans,4-cis-decadienoylcarnitine level

description: The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration

description: The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.


Elevated urine N-acetyltyrosine level

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


Elevated urine manganese level

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


Reduced urinary manganese level

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


name: Decreased circulating catecholamine concentration

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


Empty sella turcica

description: Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland.


name: Elevated brain guanidinoacetate level by MRS

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


name: Elevated circulating beta chorionic gonadotropin concentration

description: The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal.


name: Elevated circulating CXCL10 concentration

description: The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal.


name: Reduced circulating interleukin 12 concentration

description: The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal.


name: Reduced circulating fibroblast growth factor 23 concentration

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


name: Abnormal circulating fibroblast growth factor 23 concentration

description: The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.


Impaired heel-walking ability

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


Anti-prothrombin antibody positivity

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


Anti-factor V antibody positivity

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


Anti-factor VII antibody positivity

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


Anti-factor VIII antibody positivity

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


Anti-factor IX antibody positivity

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


Anti-factor X antibody positivity

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


Anti-factor XI antibody positivity

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


Anti-factor XIII antibody positivity

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


Anti-factor H antibody positivity

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


Extremities cold to touch

description: Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia.


Ruffled acrosome

description: An irregular wavy appearance of sperm acrosomes.


name: Elevated circulating calprotectin concentration

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


4-5 toe cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.


Poly-hill sign

description: A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops.


3-5 finger cutaneous syndactyly

description: A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.


Radioulnar subluxation

description: Partial dislocation of the radioulnar joint.


Non-pitting edema

description: Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.


name: Anti-human ferritin peptide antibody positivity

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


name: Elevated CSF L-2-hydroxyglutaric acid concentration

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


name: Elevated erythrocyte inosine triphosphate concentration

description: Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.


name: Reduced erythrocyte inosine triphosphatase activity

description: Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.


name: Reduced circulating alpha-1,3-fucosyltransferase activity

description: Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation.


name: Diminished neutrophil myeloperoxidase activity

description: Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.


name: Reduced erythrocyte uroporphyrinogen III cosynthase activity

description: Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.


name: Elevated 18-hydroxycorticosterone to aldosterone ratio

description: The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.


name: Elevated circulating 21-deoxycortisol concentration

description: The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal.


description: The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).


name: Elevated circulating inhibin A concentration

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


name: Increased circulating inhibin B concentration

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


name: Elevated circulating lipoprotein(a) concentration

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


name: Reduced circulating lipoprotein(a) concentration

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


Increased urinary bile acid level

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


Abnormal urinary bile acid level

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


name: Reduced erythrocyte glutathione reductase activity

description: Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.


name: Failure to elevate lactate upon ischemic exercise test

description: Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test.


name: Elevated circulating cholestanol concentration

description: The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.


Abnormal urinary organic compound level

description: The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includea alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.


Elevated urinary histamine level

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


name: Elevated urinary N-methylhistamine level

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


name: Elevated urinary ureidopropionic acid level

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


Elevated urinary porphyrin level

description: The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.


Elevated urinary coproporphyrin level

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


name: Positive cutaneous herpes simplex virus nucleic acid test

description: Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions.


name: Positive CSF mycobacterium tuberculosis nucleic acid test

description: Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


Posiitive mycobacterium CSF culture

description: Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF).


Positive mycobacterium CSF microscopy

description: The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF).


name: Positive treponema pallidum PCR test in the blood circulation

description: Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction.


name: Positive human Immunodeficiency virus nucleic acid test in the blood circulation

description: Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR).


name: Positive CSF enterovirus nucleic acid test

description: Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


name: Positive CSF Borrelia burgdorferi nucleic acid test

description: Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


name: Positive CSF arbovirus nucleic acid test

description: Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR..


name: Positive Bartonella henselae nucleic acid test in the blood circulation

description: Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


name: Positive Dengue virus PCR test in the blood circulation

description: Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


Positive CSF JC-virus nucleic acid test

description: Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.


Bloodstream Malaria parasite

description: Presence of malaria parasites in the peripheral blood.


name: Positive bloodstream plasmodium falciparum nucleic acid pathogen test

description: Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).


name: Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity

description: Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.


name: Reduced circulating dopamine beta-hydroxylase activity

description: Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine.


name: Reduced erythrocyte bisphosphoglycerate mutase activity

description: Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.


name: Reduced erythrocyte adenylate kinase activity

description: Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.


Reduced erythrocyte hexokinase activity

description: Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


name: Decreased circulating carboxypeptidase N activity

description: Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal.


name: Elevated red cell pyruvate kinase activity

description: Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.


name: Reduced circulating adenosine deaminase-2 activity

description: Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.


name: Reduced sepiapterin reductase activity in cultured fibroblasts

description: Acitivity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.


name: Elevated circulating vasoactive intestinal peptide concentration

description: The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.


name: Elevated circulating cholesterol sulfate concentration

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


name: Elevated circulating lipoprotein X concentration

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


name: Elevated circulating oxalate concentration

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


name: Elevated blood ethylene glycol concentration

description: The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects.


Midline notching of lower lip

description: Exaggerated indentation at the very middle (midline) of the lower lip.


name: Reduced tissue thymidine phosphorylase activity

description: Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.


name: Reduced tissue tripeptidyl peptidase 1 activity

description: Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.


name: Reduced tissue arginine:glycine amidinotransferase activity

description: Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.


name: Reduced tissue aspartylglucosaminidase activity

description: Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.


name: Reduced tissue carnitine-acylcarnitine translocase activity

description: Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.


name: Reduced circulating 6-pyruvoyltetrahydropterin synthase activity

description: The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.


name: Reduced tissue mannosyl-oligosaccharide glucosidase activity

description: Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts.


name: Reduced tissue 3-methylglutaconyl-CoA hydratase activity

description: Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.


name: Reduced tissue gamma-glutamyltransferase activity

description: Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.


name: Positive oropharangeal infectious agent test

description: Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue.


name: Positive oropharynx poliovirus nucleic acid test

description: Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.


name: Positive synonvial fluid infectious agent test

description: Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive.


Positive synonvial fluid culture

description: Growth of an infectious agent in a culture derived from synovial fluid.


Positive synovial fluid gram stain

description: Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis.


Anti Parvovirus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of parvovirus.


Brain parenchymal tuberculoma

description: Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.


Muscle arteriovenous malformation

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


Bone arteriovenous malformation

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


Periosteal elevation

description: Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas.


Esophageal dilation

description: Widening (relatively uniform increase in diameter) of a segment of the esophagus.


Spinal lipoma

description: A lipoma that is localized to the spine.


Loose body in joint

description: Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes.


Paraspinal arteriovenous malformation

description: An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.


Supernumerary tarsal bone

description: The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).


Maxillary cyst

description: A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins.


Mandibular cyst

description: A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.


Sixth cranial nerve hypoplasia

description: Underdevelopment of the six cranial nerve (abducens nerve).


Third cranial nerve hypoplasia

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


Elevated urinary succinylacetone level

description: Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).


Elevated urinary 2-oxoisocaproic level

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


name: Elevated urinary 2-oxovaleric acid level

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


name: Elevated urinary 2-hydroxyisocaproic acid level

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


name: Elevated urinary isovalerylglycine level

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


name: Elevated urinary 2-methyl-3-hydroxybutyric acid level

description: The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated urinary 3-hydroxypentanoic acid level

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


name: Elevated urinary 7-hydroxyoctanoic acid level

description: The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.


Elevated urinary D-glyceric acid level

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


name: Elevated urinary 3-hydroxyisobutyric acid level

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


name: Elevated urinary 3,4-Dihydroxybutyric acid level

description: The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Elevated urinary 3-hydroxyadipic acid level

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


name: Elevated erythrocyte galactose-1-phosphate concentration

description: Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.


name: Elevated circulating chitotriosidase activity

description: Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.


Squamosal suture synostosis

description: Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.


Enlarged fetal lungs

description: The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.


Orbital inflammation

description: An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.


name: Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts

description: Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.


name: Reduced muscle glycogen debrancher enzyme activity

description: Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).


name: Reduced tissue UDP-glucuronyl-transferase activity

description: Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.


Temporal artery giant cells

description: The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.


name: Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts

description: Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.


name: Elevated urinary pyrroline hydroxycarboxylic acid level

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


name: Elevated urinary N-tau-ribosylhistidine level

description: Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.


name: Elevated urinary ureidoisobutyric acid level

description: The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.


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

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


Nipple epidermal Paget cells

description: Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli.


Penile corporal blood gas ischemia

description: Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.


Rest limb pain

description: Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.


Scalloped appearance of liver surface

description: A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.


Nipple thickening

description: Thickening of the skin around the nipple.


Hypoechoic breast mass

description: A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).


Unilocular ovarian cyst

description: An ovarian cyst without septa and a solid component.


Mesenteric torsion

description: Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery.


High-pitched bowel sounds

description: Abnormal bowel sounds of an unually high frequency.


Breast granuloma

description: Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells.


description: Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.


name: Reduced hepatic glyoxylate reductase activity

description: Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal.


PAS-positive lymphocyte vacuolization

description: Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles.


Lipid-laden bone-marrow macrophages

description: Bone marrow with increased numbers of macrophages heavily laden with lipids.


Bone marrow monocytosis

description: Increased count of monocytes in the bone marrow.


Sunflower cataract

description: Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.


Anti-lamin A antibody positivity

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