Myocardial late gadolinium enhancement

description: Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.


Pericardial late gadolinium enhancement

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

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


Elevated myocardial native T1

description: Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.


Bronchoconstriction

description: Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.


name: Formation of multiple pronuclei during fertilization

description: Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.


Kinesiophobia

description: An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.


name: Impaired renal tubular reabsorption of bicarbonate

description: Decreased renal tubular reabsorption of bicarbonate.


History of congenital HPV infection

description: A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.


Anti-desmoglein-1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.


Anti-desmoglein-3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.


Anti-envoplakin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.


Anti-periplakin antibody positivity

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


Anti-desmoplakin I antibody positivity

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


Anti-desmoplakin II antibody positivity

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


Anti-BP230 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.


Anti-BP180 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.


Anti-laminin 332 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.


Anti-laminin 6 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.


Anti-laminin gamma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.


Anti-laminin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.


Anti-integrin antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.


Anti-transglutaminase 6 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.


Anti-LAD-1 antibody positivity

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


Anti-LABD97 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.


Antigliadin antibody positivity

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


Anti-reticulin antibody positivity

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


Anti-type VII collagen antibody

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


False perception of self-motion

description: A perception that one's body is moving or swaying despite lack of motion of the body.


Non-spinning vertigo

description: A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).


Infection-associated lymphopenia

description: Decreased lymphocyte count during infections.


Primary obstructive megaureter

description: Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.


Encysted hydrocele of the cord

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


Congenital hydrocele

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


Infantile hydrocele

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


name: Reduced proportion of mucosal-associated invariant T cells

description: A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.


Exanthem

description: A widespread rash.


Intestinal inflammation

description: A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.


Abnormal apoptosis

description: Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.


Decreased FasL-mediated apoptosis

description: A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.


Glomerular proteinuria

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


Abnormal lung development

description: A structural defect associated with abnormal development of the lung.


name: Abnormal pulmonary alveolar system development


Pancreatic alpha-cell hyperplasia

description: A diffuse and specific increase in the number of alpha-cells.


3-4 metacarpal synostosis

description: A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).


Abnormal iliac artery morphology

description: Any structural anomaly of the iliac artery.


Iliac artery aneurysm

description: Abnormal outpouching or sac-like dilatation in the iliac artery.


Abnormal interest

description: Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.


name: Persistent preoccupation with parts of objects

description: A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.


Fixated interests

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


Abnormal language feature

description: The presence of any atypical form of expressive language.


Pronoun reversal

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


Involuntary vocalization

description: Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others.


Reduced frequency of facial expressions

description: The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.


name: Use of another person's body to communicate

description: Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.


Fixated interest with abnormal focus

description: A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.


name: Fixated interest with abnormal intensity

description: An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.


Sensory seeking

description: Unusual interest in sensory aspects of the environment.


Reduced production of gestures

description: Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.


Reduced cooperative play

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


Lack of interest in peers

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


Reduced sharing of interests

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


Reduced object sharing

description: An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.


name: Abnormal communicative facial expressions

description: Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.


name: Facial expressions that do not match the context

description: Production of facial expressions that are misaligned with the social context.


Abnormal quality of facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.


Abnormal gesture use

description: Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.


Poor conversational reciprocity

description: Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.


Ectopic tooth eruption

description: A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.


Corpus cavernosum hypoplasia

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


name: Elevated circulating thymine concentration

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


Positive lactose hydrogen breath test

description: Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas.


Triggered by exposure to medication

description: Applies to a sign or symptom that is provoked or brought about by exposure to a medication.


Curved dental root

description: A root of a tooth that is more rounded than normal.


name: Abnormal four chamber view of the fetal heart

description: The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.


Spleen hamartoma

description: A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.


Positive lupus band test

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


Bone marrow erythroid vacuolization

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


Exposure history

description: Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home.


Asbestos exposure

description: History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.


Medication history

description: Information about current or past medications taken by an individual.


Aminoglycoside exposure

description: History of having taken aminoglycoside antibiotics.


Statin exposure

description: History of having taken statins, also known as HMG-CoA reductase inhibitors.


Potassium-sparing diuretic exposure

description: History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene.


Carbamazepine exposure

description: History of having taken carbamazepine.


Valproate exposure

description: History of having taken valproate (valproic acid).


Hydralazine exposure

description: History of having taken hydralazine.


Calcium channel blocker exposure

description: History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem.


History of exclusive breast feeding

description: A past medical history of having been fed exclusively by breast feeding.


Nutrition history

description: A part of the past medical history consisting of information about the typical food intake of an individual.


High dietary oxalate intake

description: A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb.


Recent honey ingestion

description: A history of ingestion of honey in recent weeks.


Raw egg-white ingestion

description: A history of eating raw egg whites.


name: Exacerbated by sodium channel blocking agent exposure

description: Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide.


Addictive nitrous oxide use

description: Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.


Recent blood transfusion

description: A past medical history of a recent blood transfusion.


Exacerbated by phenytoin exposure

description: Applied to a sign or symptom that is worsened by administration of phenytoin.


Prostaglandin E1 exposure

description: History of having been treateed with prostaglandin E1.


5-fluorouracil exposure

description: History of having been treated with 5-fluorouracil.


6-mercaptopurine exposure

description: History of having been treateed with 6-mercaptopurine.


Isoniazid exposure

description: History of having been treateed with isoniazid.


Absent cavum septum pellucidum

description: The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visiblity of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.


Fetal abdominal cyst

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


Fetal bowel dilatation

description: Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.


Left ventricular dilatation

description: Enlargement of the chamber of the left heart ventricle.


Fetal trigonocephaly

description: A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.


Abnormal fetal heart outflow tract

description: A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.


Recent past medical history

description: History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition.


History of recent viral illness

description: Medical history of a viral illness in recent weeks.


History of recent dental procedure

description: Medical history of a dental procedure in recent weeks.


Abnormal hepatic artery morphology

description: Any structural anomaly of the hepatic artery or its branches.


Hepatic artery hyperplasia

description: Abnormal increase in size of the hepatic arteries.


Lymph node necrosis

description: Areas of necrotic tissue within a lymph node.


Multinucleated neuron

description: Neurons that contain more than one nucleus.


History of recent contralateral injury

description: A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint.


Typified by high penetrance

description: Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.


Typified by moderate penetrance

description: Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.


Typified by low penetrance

description: Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.


name: Decreased Succinyl-CoA 3-ketoacid CoA transferase activity

description: Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.


name: Reduced phytanic acid oxidase activity in cultured fibroblasts

description: Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet.


Reduced bifunctional protein activity

description: Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.


name: Decreased circulating plasmalogen concentration

description: Reduced plasmalogen concentration in the blood circulation.


name: Post-vaccination varicella zoster virus infection

description: Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise.


Recent steroid exposure

description: History of having been treated with corticosteroid medications in recent weeks.


Shark teeth

description: Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.


Pontine T2 hypointensity

description: A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.


name: Anti-platelet antigen antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.


name: Anti-voltage-gated potassium channel antibody positivity

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


Vegan diet

description: A history of following a vegan diet characterized by avoidance of food sourced from animals including meet, fish, and dairy products.


name: History of previous pregnancy with hydrops fetalis

description: One or more previous pregnancies in which the fetus developed hydrops fetalis.


Aggravated by exposure to medication

description: Applied to a sign or symptom that is worsened by treatment with a medication.


Anti-retroviral therapy exposure

description: History of having been treated with an antiretroviral agent.


Potassium-wasting diuretic exposure

description: History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics.


Tricyclic antidepressant exposure

description: History of having been treated with a tricyclic antidepressant medication.


Excessive dental attrition

description: A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.


name: Abnormal erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.


name: Reduced erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.


name: Elevated erythrocyte adenosine triphosphate concentration

description: Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.


Spermatogonial maturation arrest

description: A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.


name: Elevated circulating neuron-specific enolase concentration

description: Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation.


name: Reduced leukocyte alpha-mannosidase activity

description: Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal.


name: Increased circulating alpha-mannosidase activity

description: Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.


Reduced leukocyte cathepsin D activity

description: Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts.


name: Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity

description: Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.


Pseudohyperkalemia

description: Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.


name: Abnormal enzyme activity in cultured fibroblasts

description: Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.


name: Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts

description: Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal.


name: Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts

description: Concentration or activity of N-acetylgalactosamine-6-sulfate sulfatase as measured in cultured fibroblasts is below the limits of normal.


name: Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts

description: Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.


name: Reduced erythrocyte porphobilinogen deaminase activity

description: Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.


name: Reduced holocarboxylase synthetase activity in cultured fibroblasts

description: Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal.


name: Abnormal circulating alpha mannosidase activity

description: Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.


name: Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts

description: Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) as measured in cultured fibroblasts is below the limits of normal.


Reduced erythrocyte arginase activity

description: Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.


name: Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts

description: Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal.


name: Reduced beta-mannosidase activity in cultured fibroblasts

description: Concentration or activity of beta-mannosidase (EC 3.2.1.25) as measured in cultured fibroblasts is below the limits of normal.


name: Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts

description: Acitivity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.


name: Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts

description: Acitivity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts.


name: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

description: Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.


name: Abnormal erythrocyte adenosine deaminase activity

description: Activity of adenosine deaminase in red blood cells outside the limits of normal.


name: Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts

description: Acitivity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.


name: Reduced glycerol kinase activity in cultured fibroblasts

description: Acitivity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts.


name: Increased circulating vitamin A concentration

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


name: Elevated circulating hyaluronic acid concentration

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


Diminished breath sounds

description: A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.


Anti-AK5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).


Anti-AMPAR antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).


Anti-Amphiphysin antibody

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


Anti-ARHGAP26 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).


Anti-CARP VIII antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).


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


Anti-CV2/CRMP5 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.


Anti-DPPX antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).


Anti-FGFR3 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.


Anti-GABA(A)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.


Anti-GABA(B)R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.


Anti-GAD65 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).


Anti-Gephyrin antibody

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


Anti-GFAP antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).


Anti-GlyR antibody

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


Anti-Homer-3 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.


Anti-Hu antibody positivity

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


Anti-Iglon5 antibody

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


Anti-ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).


name: Anti-Kelch like protein 11 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).


Anti-LGI1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).


Anti-Ma antibody positivity

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


Anti-Ma2 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.


Anti-Ma1 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.


Anti-mGluR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).


Anti-mGluR5 antibody

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


description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.


Anti-P/Q-type VGCC antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).


Anti-MAP1B antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).


Anti-PKCgamma antibody

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


Anti-Ri antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.


Anti-Septin-5 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.


Anti-SEZ6L2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).


Anti-SOX1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.


Anti-Tr/DNER antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.


Anti-TRIM46 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).


Anti-TRIM9/TRIM67 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.


Anti-Yo antibody positivity

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


Anti-titin antibody positivity

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


Anti-Zic4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).


Anti-Sj/ITPR1 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.


Anti-D2 R antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.


Anti-GluK2 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).


Anti-Lrp4 antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).


Anti-ryanodine receptor antibody

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


Anti-Kv1.4 antibody

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.


Selective mutism

description: Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.


Limited repertoire of facial expression

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


Excessive interest in others

description: A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.


Abnormal pitch

description: Abnormally high or low-pitched vocalization or speech.


Loose association

description: Speech characterized by weak (e.g. tangential/circumstantial) or absent (e.g. word salad) connections between ideas.


Neologism

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


Overly formal/pedantic language

description: Use of language that is overly formal, precise, detailed, or pedantic for the social context.


Midline hand movements

description: Hand stereotypies within the medial plane of the body.


Abnormal Intonation

description: Abnormal rise and fall of the voice in speech and vocalization.


Abnormal speech rate

description: Speech that is abnormally fast or slow


Abnormal speech rhythm

description: Speech with abnormal rhythm or pattern


Ambiguous facial expression

description: Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.


Exaggerated facial expression

description: A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.


Muted facial expression

description: A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.


Abnormal peer relationships

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.


Steroetypic movements of face and head

description: Abnormal movements of face and head.


Steroetypic upper-extremity movements

description: Abnormal movements of the upper extremities.


Stereotypic whole-body movements

description: Abnormal movements of the whole body.


Abnormal interest in others

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


Reduced social insight

description: A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.


Reduced awareness of convention

description: Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.


Abnormal relationship

description: The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.


Impaired social imitation

description: Reduced use of imitation of tasks or movements of others in play or learning.


Infrequent social initiations

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


Reduced responsiveness to social cues

description: Abnormality in the way one responds to social cues such as a verbal cue (which should cause one to shift attention) or someone sharing their emotions (which should elicit a sympathetic response).


Social disinhibition

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


name: Diminished integration of verbal and non-verbal communicative behavior

description: A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.


Reduced cooperative imaginative play

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


Lack of expressed empathy

description: This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.


Bradylalia

description: Slow speech.


Excessively loud speech

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


Excessively quiet voice

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


Abnormal speech volume

description: Speech that is abnormally loud or quiet for the social context in which it is spoken.


Reduced attention regulation

description: An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.


Reduced impulse control

description: Reduced ability to control, or a failure to resist a temptation, urge, or impulse.


Sensory behavioral abnormality

description: Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.


Idiosyncratic gesture

description: When one uses gestures that are unique to them and have no apparent meaning to others.


Atypical sorting

description: Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.


Excessive checking

description: Checking behavior that is excessive for the situational context.


Excessive hand washing

description: Hand washing behavior that is excessive for the situational context.


name: Resistance to trivial environmental changes

description: Distress in response to minor changes in one's environmental expectations.


Reduced co-speech gestures

description: Reduced use of speech-integrated gestures such as the use of beat gestures.


Limited head nodding or shaking

description: Absence or reduction in the use of head nodding to indicate "yes" or head shaking to indicate "no".


Limited pointing

description: Absence or reduction in the use of pointing to request or direct another's attention.


Sensory hypersensitivity

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


name: Sensory hyposensitivity unexplained by sensory deficit

description: Increased tolerance to sensory stimuli due to diminished sensory ability.


Auditory hypersensitivity

description: Hyperresponsive to sound that is abnormal in intensity and/or frequency.


Tactile hypersensitivity

description: A decreased tolerance to physical touch.


Auditory sensory seeking

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


Gustatory sensory seeking

description: Pursuit of a particular taste that is abnormal in intensity and/or frequency.


Olfactory sensory seeking

description: Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.


Tactile sensory seeking

description: Pursuit of a specific texture that is abnormal in intensity and/or frequency.


Vestibular sensory seeking

description: Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.


Visual sensory seeking

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


Socially inappropriate questioning

description: A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.


Spinning

description: An excessive frequency of spinning one's body.


Delayed Echolalia

description: Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.


Immediate Echolalia

description: Immediate repetition of another person's speech.


Excessive cleaning

description: Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.


name: Facial expressions not directed to others


Reduced social smiling

description: Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.


Abnormal play

description: An abnormality in a child's ability play.


Reduced imaginative play skills

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


name: Nonfunctional or atypical use of objects in play

description: Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).


Infrequent social engagement with peers

description: Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. This term refers to a lower than typical number of attempts to engage peers in conversation, play, or other interactions.


Avoidance of emotional intimacy

description: An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.


name: Failure to offer information to initiate social interaction

description: An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.


name: Difficulty understanding nonliteral meaning of conversation


name: Difficulty recognizing another's emotions

description: A difficulty in being able to understand the emotions of other people. This can range from recognizing emotions from facial expressions to an inability to empathize with others when they describe their feelings


Abnormal social emotional interactions

description: Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.


Objectification of others

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


Indifference to social norms

description: Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.


Aggression towards others

description: Aggression that is directed towards other individuals, as opposed to oneself.


Aggression towards caregivers

description: Aggression that is directed towards caregivers.


Aggression toward non-caregivers

description: Aggression that is directed towards non-caregivers.


Abnormal rituals

description: Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.


Jumping

description: An excessive frequency of jumping in place.


name: Delay in the acquisition of cooperative play skills

description: Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.


Olfactory hallucination

description: Perception of smell without olfactory stimulus.


Gustatory hallucination

description: Perception of taste without gustatory stimulus.


name: Abnormal interpretation of external stimuli

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


Proprioceptive hallucination

description: A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.


Disturbed perception with a stimulus

description: A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.


Illusions

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


Inattentiveness illusion

description: Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.


Illusions due to affect

description: Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.


Pareidolia

description: Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.


Autoscopy

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


Subjective eidetic images

description: A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.


Amplification of social interactions

description: A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Diminishment of emotional responsiveness

description: A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm.


Somatic hallucination

description: A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.


Visceral hallucination

description: A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.


Abnormal perceptual state

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


Derealization

description: Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.


Decreased facial expression reciprocity

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


name: Diminishment of comfort with casual physical contact

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


Thought blocking

description: The interruption of speech causes an abnormal period of silence, followed by a sudden switch to an unrelated topic. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.


Hypervigilance

description: A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.


Phobia

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


Anticipatory anxiety

description: A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.


Flight of ideas

description: Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations.


Disorganized speech or communication

description: An abnormal or disorganized way of communicating that appears to be the result of disorganized thought.


Recurrent maladaptive behavior

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


Cognitive distortion

description: A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.


Abnormal change in social behavior

description: An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.


Abnormal affect

description: Abnormalities in the intensity, frequency, or duration of observable and expressed emotions.


Abnormally increased motivation

description: An excessive increase in goal-directed behavior, that is, motivation, is the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. It also includes an excessive increase in non goal-directed movement or activity.


Pressured speech

description: There has been an increase in the amount of spontaneous speech, which is generally continuous, rapid, loud, and difficult to interrupt. It may sometimes be incoherent and continue even when no one is listening.


Laeden paralysis

description: The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.


Abnormal thought pattern

description: Abnormal thought pattern refers to thoughts or patterns of thinking that are intrusive, obsessive, or challenging to control.


Grandiosity

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


Hopelessness

description: Excessive feelings of despair; an intense state of despair; an overwhelming lack of hope.


Sadness

description: Intense or excessive feelings of unhappiness are often characterized by feeling down, low, unhappy, or sorrowful.


Abnormal motivation

description: Behavioral patterns and/or energy/activity levels that are statistically uncommon within a particular culture, maladaptive, and result in personal distress and impairment in the individual's functioning.


Decreased need for sleep

description: There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.


Sleep-related breathing disorders

description: Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.


Bruxism during sleep

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


Nightmares

description: Frightening dreams, typically occurring during REM sleep, are normal and common in children under 10. However, they can also impact teenagers and adults.


Sleep-related eating disorder

description: Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.


Microsleep

description: Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.


Exploding head syndrome

description: Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.


Non-restorative sleep

description: Perception of feeling unrefreshed after sleep.


name: Disturbance during transitions between sleep and wake states

description: A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.


Sexsomnia

description: Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.


Periodic limb movements

description: Repetitive limb movements during sleep can affect the quality of your sleep.


Abnormal hypnagogia

description: Abnormal transition of consciousness from wakefulness to sleep.


Abnormal hypnopompia

description: Abnormal transition of consciousness from sleeping to wakefulness.


Abnormal sleep architecture

description: Interruptions during the various stages of sleep.


Rem parasomnia

description: Parasomnia occurs during REM sleep.


Short N1 sleep

description: Disruptions in the first stage of NREM sleep can occur.


Paradoxical insomnia

description: Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.


Short N2 sleep

description: Disruptions in the second stage of NREM sleep.


Short N3 sleep

description: Disruptions in the third stage of NREM sleep.


Diminishment of social interactions

description: A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.


name: Amplification of interpersonal communication

description: An increase in the tendency of a person to share information or emotions compared to that person's previous norms.


Amplification of relationship seeking

description: Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual.


name: Diminishment of interpersonal communication

description: A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.


Diminishment of relationship seeking

description: A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.


Amplification of sexual behavior

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


Amplification of emotional expression

description: An increase in the tendency of a person to express emotions compared to that person's previous norm.


name: Amplification of emotional responsiveness

description: An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm.


name: Amplification of comfort with casual physical contact

description: An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm.


Diminishment of sexual behavior

description: A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.


Diminishment of emotional expression

description: A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.


Problematic alcohol consumption

description: Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.


Suicide behaviors

description: Suicide attempts or preparations


Addictive sedative use

description: Misuse and/or abuse of sedative drugs.


Addictive non-substance behaviors

description: Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.


Addictive spending behavior

description: An uncontrollable urge to shop and spend money can lead to distress or impairment.


Addictive sex behavior

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


Addictive video game use

description: The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.


Self-cutting

description: Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.


Autophagia

description: The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.


Hypnagogic sleep paralysis

description: Sleep paralysis that occurs when falling asleep.


Hypnopompic sleep paralysis

description: Sleep paralysis that occurs when waking up from sleep.


Sleep onset rapid eye movement period

description: Entering REM sleep immediately upon falling asleep.


Abnormal judgment

description: Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.


Overvalued idea

description: An unreasonable and an isolated sustained belief that is maintained with less than delusional intensity (i.e. the person is able is to acknowledge the possibility that the belief may or may not be true). The belief is not of one that is ordinarily accepted by other members of the person's culture or sub-culture.


Time agnosia

description: The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.


Olfactory agnosia

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


Tactile agnosia

description: The inability to recognize objects by touch is called tactile agnosia.


Delusional memory

description: A delusional interpretation of a normal memory.


Gustatory agnosia

description: People cannot identify tastes, even though they can experience them.


Autotopagnosia

description: The loss of the ability to localize, recognize, or identify specific parts of one's body.


Delusion of persecution

description: False beliefs or perceptions in which a person believes that they are being treated with malicious intent, hostility, or harassment - despite significant evidence to suggest otherwise.


Delusion of infidelity

description: A false belief that a person is the victim of his or her partner's unfaithfulness.


Grandiose delusion

description: False beliefs relating to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies).


Folie à deux

description: Delusional beliefs are transmitted from one individual to another.


Delusion of control

description: A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.


Delusion of love

description: A delusion (a fixed false belief held despite evidence to the contrary) of being loved by another person, even though there is no evidence of this, and the person in question denies it.


Nihilistic delusion

description: A false belief associated with the nonexistence of the "self," specific body parts, or the world.


Cotard delusion

description: A false belief that you or your body parts are dead, dying, or do not exist.


Abnormal experience of reality

description: Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.


Delusional perception

description: A true perception, to which a patient attributes a false meaning, ranges from experiencing some vague meaning to clear, delusional observations, and expresses delusions of reference.


Hypochondriac delusion

description: Bodily preoccupation, disease phobia, and a false fixed conviction of the presence of disease with no response to reassurance.


Delusions of infestation

description: A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.


Delusional atmosphere

description: Experience everything around them as sinister, portentous, uncanny, and peculiar in an indefinable way. They know that they are personally involved but cannot tell how. They have a feeling of anticipation, sometimes even excitement, that soon all the separate parts of their experience will fit together to reveal something immensely significant.


Delusional misidentification

description: A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced.


Religious delusion

description: Delusions are characterized by increased conviction and pervasiveness, permeating the individual's entire experience to a greater extent.


Abnormal psychotic pattern

description: Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.


Incomplete unilateral cleft lip

description: Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.


Complete unilateral cleft lip

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


Microform unilateral cleft lip

description: Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.


Complete cleft hard palate

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


Incomplete cleft hard palate

description: Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.


Complete cleft soft palate

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


Incomplete cleft soft palate

description: Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.


name: Incomplete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.


Complete cleft maxillary alveolar ridge

description: Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.


Complete cleft of the upper lip

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


Microform cleft of the upper lip

description: Notch, groove, or scar of the upper lip without noticeable rupture of the lip.


Complete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.


Incomplete bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.


Microform bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.


Asymmetric bilateral cleft lip

description: Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).


Craniofacial cleft

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


Submucous cleft palate

description: A cleft of the muscular portion of the palate that is covered by mucous membrane.


Left-right disorientation

description: A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.


name: Elevated circulating DNAJB9 protein concentration

description: Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.


Olecranon fracture

description: A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.


Lymphangiosarcoma

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


Holster sign

description: Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.


Salivary basal cell adenoma

description: A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.


Hemidiaphragm elevation

description: Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury.


Cerebriform connective tissue nevus

description: The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.


name: Linear Hyperpigmentation along Blaschko's lines

description: Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.


Excessive guilt

description: Guilt that is excessive in that it is based on an incorrect judgment (that one is responsible for a negative outcome) or is out of proportion to the committed offense.


Mediastinal shift

description: A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.


Bendopnea

description: Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward.


Tympanic membrane hypermobility

description: Abnormally increased ability to move of the tympanic membrane.


name: Elevated circulating vitamin B12 concentration

description: Concentration of vitamin B12 in the blood circulation above the upper limit of normal.


name: Elevated circulating soluble FASL concentration

description: The concentration of soluble FASL in the blood circulation is above the upper limit of normal. The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors.


Internal anal sphincter achalasia

description: A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.


Binge drinking

description: A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.


name: Decreased circulating thrombopoietin concentration

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


Collagenoma

description: A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.


Synesthesia

description: A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.


Dark cerumen

description: Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.


name: Oil-drop brown pigmentation of the corneal limbus

description: Brown pigment spots in the limbus (border between the cornea and the sclera).


Hazardous alcohol use

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


Social Anxiety

description: Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.


Placidity

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


Phaeohyphomycosis

description: Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.


Autophony

description: Hearing one's own voice resonating loudly in the ear.


Long telomere length

description: Abnormally long telomeres in somatic cells.


name: Reduced circulating aromatic L-amino acid decarboxylase activity

description: The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.


Subclavian artery stenosis

description: Abnormal narrowing of the subclavian artery.


Pulsatile liver

description: Cardiac synchronous pulsation on palpation.


name: Rhythmic movements of the tympanic membrane

description: Regularly occuring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.


Elongated temporal styloid process

description: The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles.


Pulsus paradoxus

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


name: Snowstorm pattern of uterus on ultrasound

description: A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.


name: Superficial blush-like subcutaneous fatty lesions

description: Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.


Dermal multinucleated giant cells

description: Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.


Aerophagia

description: Repetitive air swallowing and belching and that may result in abdominal distention.


name: Vaginal passage of hydatidiform mole tissue

description: Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).


Abnormal nipple discharge

description: Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic.


Hepatolithiasis

description: The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.


Excessive eructation

description: Abnormally frequent belching (expelling gas noisily from the stomach through the mouth).


Esophageal fibrosis

description: Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.


name: Increased myocardial pyrophosphate uptake

description: Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.


Brief tear break-up time

description: Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.


Cutaneous granuloma

description: A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.


Heterotopic dermal ossification

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


name: Thinning of outer muscular layer of small bowel

description: The depth of the outer muscular layer of the small bowel is below the lower limit of normal.


Renal lymphangiectasia

description: A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.


Pharyngeal myxoma

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


Subcutaneous arteriolar thrombosis

description: Fibrin thrombi inside subcutaneous arterioles.


Renal vasculitis

description: Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.


name: Pancreatic islet beta cell iron deposition

description: Accumulation of abnormally high amounts of iron in beta cells of the pancreas.


Nasal hamartoma

description: A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.


name: Metachromatic intraneuronal lipid deposits

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


name: Reduced phosphoserine phosphatase activity in cultured fibroblasts

description: Acitivity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts.


name: Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts

description: Acitivity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.


name: Reduced hepatic beta-ureidopropionase activity

description: Activity of beta-ureidopropionase in the liver below the lower limit of normal.


name: Reduced hepatic dihydropyrimidinase activity

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


Sunken fontanelle

description: Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.


Angulation of penis

description: Abnormally increased curvature of the penis.


Penile swelling

description: Abormal enlargement of the penis owing to accumulation of fluid.


name: Reduced muscle alpha-1,4-glucosidase activity

description: Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.


Brown tumor

description: A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism.


Dermal flame figures

description: Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures.


Draining sinus tract in skin

description: A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.


Spontaneous lens capsule rupture

description: Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma.


Airway mucosal thickening

description: Increase in thickness of the mucosa of the airways above the upper limit of normal.


name: Hyperpolarized transepithelial nasal potential difference

description: Increased (more negative) voltage across the nasal epithelium.


Corneopalpebral synechiae

description: An adhesion between the conjunctiva of the eyelid and the cornea.


Breast intraductal papilloma

description: Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.


Vaginal mass

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


Costovertebral angle tenderness

description: Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.


Cervical motion tenderness

description: Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.


Abnormal penile discharge

description: Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.


Supernumerary finger flexion crease

description: The presence of an extra digital crease in and individual with normal joint anatomy.


Hockey-stick palmar crease

description: An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.


name: Elevated urinary succinyladenosine level

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


name: Elevated urinary 5-hydroxymethyluracil level

description: The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.


Decreased urine creatinine level

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


Elevated urinary deoxyuridine level

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


Elevated urinary dihydrouracil level

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


Elevated urinary dihydrothymine level

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


Elevated urinary sulfatide level

description: The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.


Elevated urinary xanthurenic acid level

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


name: Increased urinary N-acetylglucosamine-rich oligosaccharide level

description: Presence of N-acetylglucosamine-rich oligosaccharides in the urine.


name: Elevated urinary 2'-deoxyadenosine level

description: The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.


name: Positive 2,4-dinitrophenylhydrazine urine test

description: Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.


Elevated urinary dolichol level

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


Decreased urinary bile acid level

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


name: Elevated urinary creatine/creatinine ratio

description: The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.


Elevated urinary thymidine level

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


Elevated urinary glutarylglycine level

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


Elevated urinary indican level

description: Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.


Dacrolith

description: Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system.


name: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity

description: Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.


name: Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity

description: The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in the blood circulation is below the lower limit of normal.


name: Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts

description: Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts.


Low semen volume

description: Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.


Enlarged lunula

description: Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is refered to as the lunula.


Splinter hemorrhages

description: Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.


Lateral thrust

description: Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.


Cerebral contusion

description: A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.


Fecolith

description: A mass of accumulated hardened fecal matter.


Appendicitis

description: Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.