Hyperketonemia

description: An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.


name: Abnormal circulating glucose-6-phosphate dehydrogenase concentration

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

description: An anomaly in the level of glucose-6-phosphate dehydrogenase.


name: Abnormal glucose-6-phosphate dehydrogenase level in blood

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.


name: Increased glucose-6-phosphate dehydrogenase level in blood

description: An increase in the level of glucose-6-phosphate dehydrogenase in the blood.


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

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


name: Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


name: Increased glucose-6-phosphate dehydrogenase level in dried blood spot

description: An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


name: Decreased glucose-6-phosphate dehydrogenase level in dried blood spot

description: A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.


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

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Abnormal glucose-6-phosphate dehydrogenase level in red blood cells

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.


name: Abnormal glucose-6-phosphate dehydrogenase level in tissue

description: An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.


name: Increased glucose-6-phosphate dehydrogenase level in tissue

description: An increase in the level of glucose-6-phosphate dehydrogenase in tissue.


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

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


name: Decreased glucose-6-phosphate dehydrogenase level in red blood cells

description: A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.


name: Increased glucose-6-phosphate dehydrogenase level in red blood cells

description: An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.


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

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


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

description: An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.


name: Abnormal circulating UDP glucose-4-epimerase concentration

description: An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Increased circulating UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Decreased circulating UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Abnormal erythrocyte UDP glucose-4-epimerase concentration

description: An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Increased erythrocyte UDP glucose-4-epimerase concentration

description: An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


name: Decreased erythrocyte UDP glucose-4-epimerase concentration

description: A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.


Increased CSF urate concentration

description: Increased concentration of urate in the cerebrospinal fluid.


Positive meconium barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in meconium.


Positive hair barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in the hair.


Positive stool barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in the stool.


Positive gastric fluid barbiturate test

description: Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.


Increased intestinal transit time

description: An increase in the length of time required for food to pass through the intestines.


name: Abnormal circulating nicotinurate concentration

description: Any deviation from the normal concentration of nicotinurate in the blood.


name: Increased circulating nicotinurate level

description: An increased amount of nicotinurate in the blood.


Positive methadone plasma/serum test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.


Positive plasma/serum cotinine test

description: Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.


Folate deficiency in CSF

description: A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.


Abnormal cord blood measurement

description: An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.


Hyperoxemia in cord blood

description: An abnormally high level of blood oxygen in the cord blood.


Hypoxemia in cord blood

description: An abnormally low level of blood oxygen in the cord blood.


Hypercapnia in cord blood

description: Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.


Hypocapnia in cord blood

description: Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.


name: Abnormal blood 5-methyltetrahydrofolate level

description: An abnormal concentration of 5-methyltetrahydrofolate in the blood.


name: Reduced blood 5-methyltetrahydrofolate level

description: A decreased concentration of 5-methyltetrahydrofolate in the blood.


name: Hypoplasia of maxilla relative to mandible

description: Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).


name: Hypoplasia of mandible relative to maxilla

description: Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).


name: Increased anti-dairy protein IgE antibody level

description: Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.


name: Increased anti-animal protein IgE antibody level

description: Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.


name: Increased anti-seafood IgE antibody level

description: Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.


name: Increased anti-dust mite IgE antibody level

description: Increased level of IgE antibody against dust mites, such as house dust mites.


name: Increased anti-bacteria IgE antibody level

description: Increased level of IgE antibody against bacteria.


Increased anti-drug IgE antibody level

description: Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.


name: Increased anti-feather IgE antibody level

description: Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.


name: Increased anti-food allergen IgE antibody level

description: Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.


name: Increased anti-plant based food allergen IgE antibody level

description: Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.


name: Increased anti-gluten IgE antibody level

description: Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.


name: Increased anti-nut food product IgE antibody level

description: Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.


Increased anti-egg IgE antibody level

description: Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.


Increased anti-fungi IgE antibody level

description: Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.


name: Increased anti-meat allergen IgE antibody level

description: Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.


name: Increased anti-parasite IgE antibody level

description: Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.


name: Increased anti-insect IgE antibody level

description: Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.


Increased anti-venom IgE antibody level

description: Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.


name: Increased anti-plant product IgE antibody level

description: Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.


Positive urine norcotinine test

description: Detection of norcotinine, a metabolite of nicotine, in urine.


Abnormal circulating IgA level

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


Abnormal circulating IgE level

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


Abnormal circulating IgG level

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


Abnormal circulating IgM level

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


Abnormal circulating IgD level

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


Decreased circulating IgD

description: An abnormally decreased level of immunoglobulin D (IgD) in blood.


Increased circulating IgD level

description: An abnormally increased level of immunoglobulin D in blood.


name: Increased anti-animal dander IgE antibody level

description: Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.


name: Increased anti-house dust mite IgE antibody level

description: Increased level of IgE antibody against house dust mites, a common allergen.


name: Increased anti-alpha-gal IgE antibody level

description: Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.


Abnormal L-selectin shedding

description: An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.


Chronic neutropenia

description: Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.


Myeloid maturation arrest

description: Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


name: Cyclic neutropenia in myeloid maturation arrest in bone marrow

description: Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.


Transient neutropenia

description: A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.


Infection associated neutropenia

description: Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.


Neutrophilia in presence of infection

description: An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.


Neutrophilia in absence of infection

description: An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.


Hepatopulmonary fusion

description: Fusion of the liver with the lung.


Asymmetrical gluteal crease

description: The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.


Wide space between 4th and 5th toe

description: A widely spaced gap between the fourth toe and the fifth (pinky) toe.


Lower cranial nerve dysfunction

description: A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.


Brain imaging abnormality

description: An anomaly of metabolism or structure of the brain identified by imaging.


Supraglottic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.


Visceral hemangioma

description: A hemangioma arising from within visceral structures, the internal organs of the body.


Intestinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.


Labial hemangioma

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


Esophageal hemangioma

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


Laryngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.


Vulvar hemangioma

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


Retropharyngeal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.


Paraspinal hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.


Lumbosacral hemangioma

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


Supraumbilical raphe

description: An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).


Sternal pit

description: A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.


Pituitary gland cyst

description: A fluid-filled sacs that develop on or near the pituitary gland.


Atrophic pituitary gland

description: Partial or complete wasting (loss) of the pituitary gland.


Pediatric onset

description: Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.


name: Abnormal circulating amylase concentration

description: A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.


Positive blood acetaminophen test

description: Detection of acetaminophen in the blood.


Positive norpropoxyphene blood test

description: Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.


Positive meconium methadone test

description: Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.


Positive blood molindone test

description: Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.


Intrathoracic hemangioma

description: A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.


Hyperamylasemia

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


Hypoamylasemia

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


Positive urine norpropoxyphene test

description: Detection of norpropoxyphene in urine.


Negativism

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


Abnormal isohemagglutinin level

description: An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


Absent isohemagglutinin level

description: Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).


name: Decreased specific antibody response to protein vaccine

description: A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.


name: Complete or near-complete absence of specific antibody response to tetanus vaccine

description: The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


name: Complete or near-complete absence of specific antibody response to hepatitis B vaccine

description: The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.


name: Partial absence of specific antibody response to tetanus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.


name: Partial absence of specific antibody response to hepatitis B vaccine

description: A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.


name: Decreased specific antibody response to polysaccharide vaccine

description: A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


name: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine

description: The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.


name: Partial absence of specific antibody response to unconjugated pneumococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.


name: Decreased specific antibody response to protein-conjugated polysaccharide vaccine

description: A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.


name: Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


name: Complete or near-complete absence of specific antibody response to meningococcus vaccine

description: The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


name: Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

description: A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.


name: Partial absence of specific antibody response to meningococcus vaccine

description: A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.


Positive stool methadone test

description: Detection of methadone and its metabolites in the stool.


name: Decreased specific antibody response to infection

description: A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.


Alpha-aminoadipic aciduria

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


name: Abnormality of neutrophil morphology in CSF

description: An abnormal form or size of neutrophils in the cerebrospinal fluid.


name: Hyposegmentation of neutrophil nuclei in CSF

description: Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.


name: Hypersegmentation of neutrophil nuclei in CSF

description: An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.


name: Abnormal urinary 1-methylhistidine concentration

description: Abnormal concentration of 1-methylhistidine in the urine.


Decreased urinary 1-methylhistidine

description: Decreased concentration of 1-methylhistidine in the urine.


Increased urinary 1-methylhistidine

description: Increased concentration of 1-methylhistidine in the urine.


name: Abnormal urinary 3-methylhistidine level

description: Abnormal amount of 3-methylhistidine in the urine.


Increased urinary 3-methylhistidine

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


Decreased urinary 3-methylhistidine

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


Alpha-gal allergy

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


Animal protein allergy

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


Animal dander allergy

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


Bacteria allergy

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


Dust mite allergy

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


Feather allergy

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


Dairy allergy

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


Egg allergy

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


Gluten allergy

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


Meat allergen allergy

description: Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.


Nut food product allergy

description: Hypersensitivity in form of an adverse immune reaction against nut food products.


Plant based food allergy

description: Hypersensitivity in form of an adverse immune reaction against plant based food allergens.


Seafood allergy

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


Fungi allergy

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


Insect allergy

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


Venom allergy

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


Parasite allergy

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


Plant product allergy

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


Insect bite allergy

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


name: Abnormal circulating heparan sulfate level

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


name: Increased circulating heparan sulfate level

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


name: Decreased circulating heparan sulfate level

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


name: Shortened O-fucosylated glycan on properdin

description: Decreased length of O-fucosylated glycans present on properdin.


Increased urinary polyhexose

description: An abnormal increase in the concentration of polyhexose in the urine.


name: Increased urinary galactosylated oligosaccharide

description: An abnormal increase in the concentration of galactosylated oligosaccharides in urine.


name: Increased urinary high-mannose-type oligosaccharide

description: An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.


name: Increased urinary multiantennary sialylated oligosaccharide

description: An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.


name: Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level

description: An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.


name: Increased urinary fucosylated oligosaccharide

description: An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.


Abnormal complex N-glycan level

description: An abnormal concentration of complex N-glycans on glycoproteins.


Increased complex N-glycan level

description: An abnormal increase in the concentration of complex N-glycans on glycoproteins.


Decreased complex N-glycan level

description: An abnormal decrease in the concentration of complex N-glycans on glycoproteins.


Increased sialylated N-glycan level

description: An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.


Decreased sialylated N-glycan level

description: An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.


Abnormal high-mannose N-glycan level

description: An abnormal concentration of high-mannose N-glycans on glycoproteins.


Increased high-mannose N-glycan level

description: An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.


Decreased high-mannose N-glycan level

description: An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.


Abnormal core 1 O-glycan level

description: An abnormal in the concentration of core 1 O-glycans on glycoproteins.


Increased core 1 O-glycan level

description: An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.


Decreased core 1 O-glycan level

description: An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.


name: Decreased O-mannosyl glycans on alpha-dystroglycan

description: Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.


name: Increased monosialylated core 1 O-glycan level

description: An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.


name: Decreased monosialylated core 1 O-glycan level

description: An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.


name: Increased disialylated core 1 O-glycan level

description: An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.


Increased globoside Gb4 level

description: An abnormal increase in the concentration of globoside Gb4.


name: Increased hepatitis A virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.


Increased globoside Gb3 level

description: An abnormal increase in the concentration of glycolipid globoside Gb3.


name: Increased hepatitis B virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.


Absence of ganglioside GM3

description: The absence of ganglioside GM3.


name: Increased hepatitis C virus antibody level

description: An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.


Increased Tn-antigen level

description: An abnormal increase in the concentration of Tn antigen on glycoproteins.


name: Abnormal proportion of naive CD4 T cells

description: Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.


name: Abnormal proportion of naive CD8 T cells

description: Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.


name: Increased proportion of naive CD4 T cells


name: Increased proportion of naive CD8 T cells

description: An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.


name: Decreased proportion of naive CD8 T cells

description: An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.


name: Decreased proportion of naive CD4 T cells

description: An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.


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

description: An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

description: An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

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


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

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


name: Abnormal proportion of central memory CD8-positive, alpha-beta T cells

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


description: Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

description: Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

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


name: Decreased proportion of central memory CD8-positive, alpha-beta T cells

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


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

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


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

description: An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

description: An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.


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

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


name: Increased proportion of effector memory CD4-positive, alpha-beta T cells

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


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

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


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

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


Bronchiolectasis

description: Saccular dilatation of the terminal bronchioles.


Positive blood lead test

description: Detection of lead in the blood.


Absent sebaceous glands

description: Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.


Abnormal frontal bone morphology

description: An abnormality of the frontal bone.


Abnormal lacrimal bone morphology

description: An abnormality of the lacrimal bone.


Abnormal palatine bone morphology

description: An abnormality of the palatine bone.


Abnormal ethmoid bone morphology

description: An abnormality of the ethmoid bone


Ectopic cilia of eyelid

description: An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.


Symblepharon

description: A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.


Accessory eyelid

description: The presence of more than the normal number of eyelids.


Hypoplasia of eyelid

description: Developmental hypoplasia of the eyelid.


Microblepharia

description: Abnormal shortness of the vertical dimensions of the eyelids.


Defect of palpebral conjunctiva

description: An abnormality of the palpebral conjunctiva.


name: Incomplete ossification of palatine bone

description: Failure to complete ossification (maturation and calcification) of the palatine bone.


Absent palatine bone ossification

description: Lack of formation of the palatine bone.


name: Abnormality of musculature of soft palate

description: An abnormality of one or more of the five muscles of the soft palate.


name: Abnormal morphology of musculature of pharynx

description: An abnormality of any of the muscles of the pharynx.


name: Abnormality of tensor veli palatini muscle

description: An abnormality of the tensor veli palatini muscle


Abnormality of uvular muscle

description: An abnormality of the uvular muscle


Abnormality of nasal musculature

description: An abnormality of the muscles of the structure of the nose.


name: Abnormality of muscle of facial expression

description: An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.


name: Abnormality of levator labii superioris alaeque nasi muscle

description: An abnormality of the levator labii superioris alaeque nasi muscle.


name: Abnormal common carotid artery morphology

description: An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.


Abnormality of the sphenoid sinus

description: An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.


Abnormality of the maxillary sinus

description: An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.


Abnormality of external jugular vein

description: An abnormality of an external jugular vein of the neck.


Bilateral facial palsy

description: Two-sided or bilateral weakness of the muscles of facial expression and eye closure.


Hyperplasia of the maxilla

description: Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.


Hyperplasia of the premaxilla

description: An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.


Positive infectious agent test

description: Any kind of test for an infectious agent in a specimen positive.


Aqueous humor viral DNA positivity

description: The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye.


Gottron sign

description: Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.


name: Hypertension resistant to conventional therapy

description: Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.


name: Tibiofibular interosseous membrane calcification

description: Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.


Supracondylar elbow fracture

description: A type of elbow fracture that involves the distal humerus just above the elbow.


Thoracic lordosis

description: Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).


Small joint hypermobilty

description: The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints,


Large joint hypermobilty

description: The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.


Intracranial calcification

description: Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.


Anti-thyroid antibody positivity

description: The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.


name: Positive bloodstream pathogen-specific antibody positivity

description: Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies).


name: Anti-SARS-CoV-2 coronavirus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2).


name: Anti-West Nile virus antibody positivity

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


Anti-microfilaria antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite).


name: Anti-trypanosoma cruzi antibody positivity

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


name: Anti-chikungunya virus antibody positivity

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


name: Anti-chlamydia psittaci antibody positivity

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


Anti-herpes simplex antibody positivity

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


name: Positive bloodstream virus-specific antibody positivity

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


name: Positive bloodstream parasite-specific antibody positivity

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


name: Positive bloodstream antibacterial antibody positivity

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


name: Anti-Japanese encephalitis virus-specific antibody positivity

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


name: Anti-chlamydia trachomatis-specific antibody positivity

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


name: Anti-Epstein-Barr virus-specific antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV).


description: The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite).


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


name: Positive bloodstream nucleic acid pathogen test

description: Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.


name: Positive microfilaria PCR test in the blood circulation

description: Detection of nucleic acid of a microfilarial parasite in the blood circulation.


name: Positive JC-virus PCR test in the blood circulation

description: Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation.


Placenta previa

description: Implantation of the placenta over or near the internal os of the cervix.


name: Abnormal circulating organic compound concentration

description: Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.


name: Abnormal circulating beta-carotene concentration

description: Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.


name: Decreased circulating beta-carotene concentration

description: The concentration of beta-carotene in the blood circulation is below the lower limit of normal.


name: Increased circulating beta-carotene concentration

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


Mammary blocked duct

description: Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple.


name: Positive bloodstream antifungal antibody positivity

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


Anti-coccidioidal antibody positivity

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


Anti-cryptococcal antibody positivity

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


Anti-mycoplasma antibody positivity

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


Anti-rickettsial antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors


name: Anti-Bartonella henselae antibody positivity

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


Anti-Dengue virus antibody positivity

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


Anti-arbovirus antibody positivity

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


name: Anti-lymphocytic choriomeningitis antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV).


description: The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus.


Anti-rubella antibody positivity

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


description: The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).


Anti-measles antibody positivity

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


Anti-schistosoma antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma.


Anti-Powassan virus antibody positivity

description: The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America.


name: Abnormal superficial temporal artery morphology

description: Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.


Skip lesions on temporal artery biopsy

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


Abnormal brain-evoked potentials

description: Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.


Sputum infectious agent

description: The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation.


name: Positive Mycobacterium avium sputum culture

description: Growth of mycobacterium avium in a sputum culture.


name: Positive bloodstream infectious agent antigen test

description: A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent.


name: Positive bloodstream Cysticercosis antigen test

description: Demonstration of an antigen specific to Cysticercosis in the bloodstream.


Klazomania

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


Coprolalia

description: Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.


Continuous involuntary vocalizations

description: Continuous groaning, moaning, grunting, and shrieking.


name: Aplasia/hypoplasia of the uterine cervix

description: Congenital absence or underdevelopment of the uterine cervix.


Cervical hypoplasia

description: Underdevelopment of the uterine cervix.


name: Primary peritoneal serous papillary adenocarcinoma

description: A serous papillary adenocarcinoma that arises from the lining of the peritoneum


Positive skin infectious agent test

description: Any kind of test for an infectious agent in skin positive.


Positive skin fungus test

description: A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast.


Nasal secretion eosinophilia

description: Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.


Nasal secretion neutrophilia

description: Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.


Seminal vesicle agenesis

description: A developmental defect characterized by congenital absence of the seminal vesicle.


name: Head impulse test has corrective saccade

description: In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.


Positive CSF infectious agent test

description: Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive.


name: Positive CSF toxoplasma gondii nucleic acid test

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


name: Elevated circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.


name: Abnormal circulating plasminogen activator inhibitor 1 activity

description: The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.


Bartholin cyst

description: A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.


name: Abnormal circulating hepatic transaminase concentration

description: Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase.


name: Reduced circulating aspartate aminotransferase concentration

description: The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal.


Elevated urine succinic acid level

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


name: Positive CSF varicella zoster virus nucleic acid test

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


name: Positive CSF pathogen-specific antibody positivity

description: Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies).


Positive CSF nucleic acid pathogen test

description: Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.


name: Positive CSF varicella zoster antibody positivity

description: The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus.


name: Reduced circulating interleukin 6 concentration

description: The concentration of interleukin-6 in the blood circulation is below the lower limit of normal.


name: Elevated circulating C12 acylcarnitine concentration

description: Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.


Frontalis muscle overactivity

description: Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression.


Nasal dermoid cyst

description: An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands.


name: Elevated circulating complement C3 concentration

description: Concentration of the complement component C3 in the blood circulation above the upper limit of normal.


name: Abnormal circulating inhibin B concentration

description: The concentration of inhibin B in the blood circulation is outside the limits of normal.


name: Abnormal circulating lipoprotein(a) concentration

description: The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.


Positive blood infectious agent test

description: Any kind of test for an infectious agent in the blood circulation positive.


name: Positive respiratory tract infectious agent test

description: Any kind of test for an infectious agent in the respiratory tract positive.


Body odor

description: A perceived unpleasant smell given off by the body.


Anal pain

description: Pain in and around the anus or rectum (perianal region).


Iris flocculi

description: Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.


Cornea verticillata

description: Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.


Moon facies

description: A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.


name: Abnormal gonadotropin-releasing hormone concentration

description: A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).


name: Lack of gonadotropin-releasing hormone pulsatility

description: Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.


Abnormal cardiac test

description: Abnormal test result of cardiovascular physiology.


Abnormal cardiac MRI

description: Abnormal results of a MRI for the heart.


Abnormal cardiac catheterization

description: Abnormal results from the diagnostic tests resulting from cardiac catheterization.


Abnormal cardiac exercise stress test

description: Abnormal results of exercise on heart function.


name: Abnormal resting energy expenditure from metabolic cart test

description: Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).


Abnormal cardiac biomarker test

description: Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.


name: Reduced brain gamma-aminobutyric acid level by MRS

description: An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).


name: Abnormal circulating dehydroepiandrosterone concentration

description: A deviation from the normal concentration of dehydroepiandrosterone in the circulation.


Shoulder muscle aplasia

description: Absence of shoulder muscles.


name: Aplasia of the musculature of the pelvis

description: Absence of the musculature of the pelvis.


name: Hypoplasia of the musculature of the pelvis

description: Underdevelopment of the musculature of the pelvis.


Aplastic colon

description: Congenital absence of the colon


Cotton wool plaques

description: Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.


Abnormal hepatic glycogen storage

description: Change in normal glycogen storage content.


Sclerosis of the carpal bones

description: An elevation in bone density in one or more carpal bones of the hand.


Abnormal neuron branching

description: Abnormality of the structure and branching of the dendrites of a neuron.


name: Abnormal natural killer subset distribution

description: Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.


Nasolacrimal sac obstruction

description: Blockage of the nasolacrimal sac.


Nasolacrimal sac granuloma

description: A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.


Nasolacrimal sac papilloma

description: Benign tumor of the nasolacrimal sac.


name: Nasolacrimal sac epithelial papillary carcinoma

description: The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.


Conjunctival cicatrization

description: An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.


Dermolipoma of the conjunctiva

description: A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.


Myopic astigmatism

description: A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.


Latent hypermetropia

description: A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.


Eyelid retraction

description: With the eyes in primary position, the sclera is visible above the superior corneal limbus.


Upper eyelid retraction

description: An elevation of the eyelid above the normal level in the primary position.


Collier's sign

description: A unilateral or bilateral eyelid retraction due to midbrain lesions.


Seborrhoeic blepharitis

description: Inflammation of the eyelid due to overactivity of the sebaceous gland.


Nasolacrimal sac lymphoma

description: A type of lymphoma that involves the nasolacrimal sac.


name: Delayed canalization of nasolacrimal duct

description: A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.


Retinopathy of prematurity stage 1

description: The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.


Retinopathy of prematurity stage 2

description: The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.


Retinopathy of prematurity stage 3

description: The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.


Retinopathy of prematurity stage 4

description: Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.


Retinopathy of prematurity stage 4a

description: A detachment that involves the peripheral retina that does not extend into the macula.


Retinopathy of prematurity stage 4b

description: A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.


Retinopathy of prematurity stage 5

description: Funnel detachment from the retina with generally traction in all four quadrants.


Retinopathy of prematurity stage 5a

description: An open funnel detachment of the retina with generally traction in all four quadrants.


Retinopathy of prematurity stage 5b

description: A closed funnel detachment of the retina with generally traction in all four quadrants.


Retinopathy of prematurity zone I

description: Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.


Retinopathy of prematurity zone II

description: Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.


Retinopathy of prematurity zone III

description: Retinopathy which is a residual crescent of retina anterior to zone II.


Retinopathy of prematurity plus

description: Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.


Retinopathy of prematurity pre-plus

description: As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.


Retinopathy of prematurity threshold

description: A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.


Retinopathy of prematurity prethreshold

description: High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.


Latent myopia

description: The difference between total and manifest myopia.


Paralytic ectropion

description: A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.


Conjunctival dermolipoma

description: A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.


Absolute eccentric fixation

description: Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.


Abnormal ocular alignment

description: Any deviation from the normal ocular alignment.


Dissociated vertical deviation

description: An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.


Dissociated horizontal deviation

description: A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.


Alternating hypertropia

description: A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.


Alternating hyperphoria

description: A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.


Alternating hypotropia

description: A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.


Alternating hypophoria

description: A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.


Pseudophakia

description: The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).


Optic nerve gray crescent

description: Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.


Peripapillary atrophy

description: Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.


Foveal depigmentation

description: Loss of pigment in the fovea centralis.


Periocular capillary hemangioma

description: A capillary hemangioma surrounding the eyeball but within the orbit.


Lymphangioma of the orbit

description: A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.


Orbital rhabdomyosarcoma

description: A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.


Food allergy

description: Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.


Food-induced anaphylaxis

description: Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.


Venom-induced anaphylaxis

description: A form of anaphylaxis that is triggered by exposure to venom.


Stool xenobiotic

description: Presence of xenobiotic in stool.


Meconium xenobiotic

description: Presence of a xenobiotic in meconium.


Hair xenobiotic

description: Presence of xenobiotic in hair.


Plasma/serum xenobiotic

description: Presence of a xenobiotic in plasma and/or serum.


Gastric fluid xenobiotic

description: Presence of a xenobiotic in gastric fluid.


Decreased diastolic blood pressure

description: Abnormal decrease in diastolic blood pressure.


Decreased systolic blood pressure

description: Abnormal decrease in systolic blood pressure.


Isolated systolic hypertension

description: Elevated systolic blood pressure without an elevated blood pressure.


Isolated diastolic hypotension

description: A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).


Positive urine cocaine test

description: Detection of cocaine or its major metabolite, benzoylecgonine, in urine.


Positive urine barbiturate test

description: Detection of barbiturate metabolites such as Phenobarbital in urine.


Positive urine cannabinoid test

description: Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.


Positive urine benzodiazepines test

description: Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.


Positive urine amphetamine test

description: Detection of amphetamine or its metabolites in urine.


Positive urine opioid test

description: Detection of opioids or opioid metabolites in urine.


name: Abnormal stool urobilinogen concentration

description: Abnormal concentration of urobilinogen present in the stool.


name: Increased stool urobilinogen concentration

description: An increased amount of urobilinogen present in the stool.


Positive blood barbiturate test

description: Detection of barbiturate metabolites such as Phenobarbital in blood.


Abnormal CSF urate concentration

description: Abnormal concentration of urate in the cerebrospinal fluid (CSF).


Hypovalinemia

description: A decreased amount of valine in the blood.


Hypotyrosinemia

description: An decreased concentration of tyrosine in the blood.


Hypertryptophanemia

description: An increased amount of tryptophan in the blood.


Hypotryptophanemia

description: A decreased amount of tryptophan in the blood.


Hypothreoninemia

description: A decreased amount of threonine in the blood.


Hyperserinemia

description: An increased amount of serine in the blood.


Hypoprolinemia

description: A decreased amount of proline in the blood.


name: Decreased circulating hydroxyproline concentration

description: A decreased amount of hydroxyproline in the blood.


Hypophenylalaninemia

description: A decreased amount of phenylalanine in the blood.


Hypolysinemia

description: A decreased amount of lysine in the blood.


Hypoleucinemia

description: Decreased amount of leucine in the blood.


Hypoisoleucinemia

description: A decreased amount of isoleucine in the blood.


Hypohistidinemia

description: A decreased amount of histidine in the blood.


Hypoglutaminemia

description: Decreased amount of glutamine in the blood.


name: Abnormal circulating glutamate concentration

description: Any deviation from the normal concentration of glutamate in the blood circulation.


Hyperglutamatemia

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


Hypoglutamatemia

description: A decreased amount of glutamate in the blood.


Hypercystinemia

description: An increased amount of cystine in the blood.


Hypocystinemia

description: A decreased amount of cystine in the blood.


Hyperargininemia

description: An increased amount of arginine levels in the blood.


Hypoalaninemia

description: A decreased amount of alanine in the blood.


name: Abnormal circulating asparagine concentration

description: Any deviation from the normal concentration of asparagine in the blood circulation.


Hyperasparaginemia

description: An increased amount of asparagine in the blood.


Hypoasparaginemia

description: A decreased amount of asparagine in the blood.


name: Abnormal circulating aspartic acid concentration

description: Any deviation from the normal concentration of aspartate in the blood circulation.


name: Increased circulating aspartic acid concentration

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


name: Abnormal circulating carnosine concentration

description: Any deviation from the normal concentration of carnosine in the blood circulation.


name: Increased circulating carnosine concentration

description: Concentration of carnosine in the blood circulation above normal limits.


name: Decreased circulating carnosine concentration

description: A decreased amount of carnosine in bood.


Hypoornithinemia

description: An abnormal decrease in ornithine in the blood.


Abnormal blood carbon dioxide level

description: An abnormality of carbon dioxide (CO2) in the arterial blood.


Abnormal blood oxygen level

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


name: Abnormal circulating gastrin concentration

description: An abnormal concentration of gastrin in the blood.


Hypergastrinemia

description: An elevated amount of gastrin in the blood.


name: Abnormal concentration of acylcarnitine in the urine

description: An abnormal amount of acylcarnitine in the urine.


Reflex asystolic syncope

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


name: Abnormal circulating amino sulfonic acid concentration


Hypertaurinemia

description: An increased amount of taurine in the blood.


Hypotaurinemia

description: A decreased amount of taurine in the blood.


name: Abnormal CSF carboxylic acid concentration

description: Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.


Abnormal CSF amino acid concentration

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


name: Abnormal CSF branched chain amino acid concentration

description: Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.


Abnormal CSF valine concentration

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


Increased CSF valine concentration

description: Any increased amount from normal of valine in the cerebrospinal fluid.


Decreased CSF valine concentration

description: Any decreased amount from normal of valine in the cerebrospinal fluid.


Abnormal CSF leucine concentration

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


Decreased CSF leucine concentration

description: Abnormally decreased levels of leucine in the cerebrospinal fluid.


Increased CSF leucine concentration

description: Abnormally increased levels of leucine in cerebrospinal fluid.


Abnormal CSF isoleucine concentration

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


Increased CSF isoleucine concentration

description: Abnormally increased levels of isoleucine in cerebrospinal fluid.


Decreased CSF isoleucine concentration

description: Abnormally decreased levels of isoleucine in cerebrospinal fluid.


name: Abnormal CSF glutamine family amino acid concentration

description: Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.


Abnormal CSF glutamine concentration

description: Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.


Increased CSF glutamine concentration

description: Abnormally increased levels of glutamine in cerebrospinal fluid.


Decreased CSF glutamine concentration

description: Abnormally decreased levels of glutamine in cerebrospinal fluid.


Abnormal CSF glutamate concentration

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


Increased CSF glutamate concentration

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


Decreased CSF glutamate concentration

description: Abnormally decreased levels of glutamic acid in cerebrospinal fluid.


Abnormal CSF arginine concentration

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


Increased CSF arginine concentration

description: Abnormally increased levels of arginine in cerebrospinal fluid.


Decreased CSF arginine concentration

description: Abnormally decreased levels of arginine in cerebrospinal fluid.


name: Abnormal CSF aspartate family amino acid concentration

description: Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.


Abnormal CSF lysine concentration

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


Decreased CSF lysine concentration

description: Abnormally decreased levels of lysine in cerebrospinal fluid.


Increased CSF lysine concentration

description: Abnormally increased levels of lysine in cerebrospinal fluid.


Abnormal CSF methionine concentration

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


Increased CSF methionine concentration

description: Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.


Abnormal CSF threonine concentration

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


Increased CSF threonine concentration

description: Abnormally increased levels of threonine in cerebrospinal fluid.


Decreased CSF threonine concentration

description: Abnormally decreased levels of threonine in cerebrospinal fluid.


name: Abnormal CSF aromatic amino acid concentration

description: Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.


name: Abnormal CSF phenylalanine concentration

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


Abnormal CSF aspartate concentration

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


Increased CSF aspartate concentration

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


Abnormal CSF tryptophan concentration

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


Abnormal CSF tyrosine concentration

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


Increased CSF tyrosine concentration

description: Abnormally increased levels of tyrosine in cerebrospinal fluid.


Decreased CSF tyrosine concentration

description: Abnormally decreased levels of tyrosine in cerebrospinal fluid.


Increased CSF tryptophan concentration

description: Abnormally increased levels of tryptophan in cerebrospinal fluid.


name: Increased CSF phenylalanine concentration

description: Abnormally increased levels of phenylalanine in cerebrospinal fluid.


name: Decreased CSF phenylalanine concentration

description: Abnormally decreased levels of phenylalanine in cerebrospinal fluid.


name: Abnormal CSF serine family amino acid concentration

description: Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.


Abnormal CSF serine concentration

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


Increased CSF serine concentration

description: Abnormally increased levels of serine in cerebrospinal fluid.


Decreased CSF serine concentration

description: Abnormally decreased levels of serine in cerebrospinal fluid.


Abnormal CSF glycine concentration

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


Increased CSF glycine concentration

description: Abnormally increased levels of glycine in cerebrospinal fluid.


name: Abnormal CSF pyruvate family amino acid concentration

description: Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.


Abnormal CSF alanine concentration

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


Increased CSF alanine concentration

description: Abnormally increased levels of alanine in cerebrospinal fluid.


Decreased CSF alanine concentration

description: Abnormally decreased levels of alanine in cerebrospinal fluid.


Abnormal CSF histidine concentration

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


Increased CSF histidine concentration

description: Abnormally increased levels of histidine in cerebrospinal fluid.


Decreased CSF histidine concentration

description: Abnormally decreased levels of histidine in cerebrospinal fluid.


Abnormal CSF albumin concentration

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


Abnormal CSF carnosine concentration

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


name: Abnormal CSF homocarnosine concentration

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


name: Increased CSF homocarnosine concentration

description: Abnormally increased levels of homocarnosine in cerebrospinal fluid.


Abnormal CSF ornithine concentration

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


Increased CSF ornithine concentration

description: Abnormally increased levels of ornithine in cerebrospinal fluid.


Abnormal CSF citrulline concentration

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


Increased CSF citrulline concentration

description: Abnormally increased levels of citrulline in cerebrospinal fluid.


name: Abnormal CSF alpha-aminobutyrate concentration

description: Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.


name: Increased CSF alpha-aminobutyrate concentration

description: Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.


name: Abnormal circulating ethanolamine concentration

description: Any deviation from the normal concentration of ethanolamine in circulation.


name: Increased circulating ethanolamine concentration

description: Abnormally increased levels of ethanolamine in circulation.


name: Abnormal urine sebacic acid concentration

description: Abnormal concentration of sebacic acid in the urine.


name: Increased urine sebacic acid concentration

description: Elevated concentration of sebacic acid in the urine.


name: Increased level of gamma-aminobutyric acid in urine

description: Elevated concentration of gamma-aminobutyric acid in the urine.


name: Abnormal urine hexanoylglycine concentration

description: Abnormal concentration of hexanoylglycine in the urine.


name: Increased level of hexanoylglycine in urine

description: Elevated concentration of hexanoylglycine in the urine.


name: Abnormal urine isobutyrylglycine concentration

description: Abnormal concentration of isobutyrylglycine in the urine.


name: Increased urine isobutyrylglycine concentration

description: Elevated concentration of isobutyrylglycine in the urine.


name: Abnormal carbon dioxide level in cord blood

description: Abnormal amount of carbon dioxide in umbilical cord blood


Abnormal oxygen level in cord blood

description: An abnormal level of blood oxygen in the cord blood.


Triggered by head trauma

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


Triggered by anesthetics

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


Atrichia

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


Abnormal helper T cell proportion

description: Abnormal proportion of helper T cells relative to the total number of T cells.


Increased helper T cell proportion

description: Increased proportion of helper T cells relative to the total number of T cells.


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

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


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

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


name: Abnormal proportion of CD4-positive helper T cells

description: An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.


description: Abnormal proportion of gamma-delta T cells relative to the total number of T cells.


description: Increased proportion of gamma-delta T cells relative to the total number of T cells.


description: Decreased proportion of gamma-delta T cells relative to the total number of T cells.


description: Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.


description: Increased proportion of immature gamma-delta T cells relative to the total number of T cells.


description: Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.


Proximal scleroderma

description: Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.


Verruca plana

description: Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.


name: Abnormal inner ear epithelium morphology

description: Any structural anomaly of an inner ear epithelium.


Abnormal mandibular ramus morphology

description: An abnormality of a mandibular ramus.


Abnormal frontalis muscle physiology

description: Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.


Abnormality of masseter muscle

description: An abnormality of a masseter muscle.


Abnormality of medial pterygoid muscle

description: An abnormality of a medial pterygoid muscle.


Abnormality of mentalis muscle

description: An abnormality of a mentalis muscle.


Abnormality of mylohyoid muscle

description: An abnormality of a mylohyoid muscle.


Abnormality of nasalis muscle

description: An abnormality of a nasalis muscle.


Abnormality of orbicularis oris muscle

description: An abnormality of an orbicularis oris muscle.


Abnormality of palatoglossus muscle

description: An abnormality of a palatoglossus muscle.


Abnormality of palatopharyngeus muscle

description: An abnormality of a palatopharyngeus muscle.


Abnormal platysma muscle morphology

description: An abnormality of the platysma muscle.


Abnormality of procerus muscle

description: An abnormality of a procerus.


Abnormality of risorius muscle

description: An abnormality of a risorius muscle.


Abnormality of styloglossus muscle

description: An abnormality of the styloglossus muscle.


Abnormality of temporalis muscle

description: An abnormality of a temporalis muscle.


Abnormality of zygomaticus major muscle

description: An abnormality of a zygomaticus major muscle.


Abnormal buccal mucosa morphology

description: An abnormality of a buccal mucosa.


Abnormality of zygomaticus minor muscle

description: An abnormality of a zygomaticus minor muscle.


Abnormal buccal fat pad morphology

description: An abnormality of a buccal fat pad.


name: Abnormality of cartilage of external ear

description: An abnormality of a cartilage of external ear.


Abnormality of angular artery

description: An abnormality of the angular artery, the terminal branch of the facial artery.


Abnormal facial artery morphology

description: Any structural abnormality of a facial artery, one of the branches of the external carotid artery.


Abnormality of ciliary ganglion

description: An abnormality of a ciliary ganglion.


Abnormality of buccinator muscle

description: An abnormality of a buccinator muscle.


name: Abnormality of depressor anguli oris muscle

description: An abnormality of a depressor anguli oris muscle.


name: Abnormality of depressor labii inferioris

description: An abnormality of a depressor labii inferioris.


name: Abnormal morphology of bony orbit of skull

description: An abnormality of an orbit of skull.


name: Abnormality of anterior ethmoidal artery

description: An abnormality of an anterior ethmoidal artery.


Abnormality of central retinal artery

description: An abnormality of a central retinal artery.


name: Abnormal nasopharyngeal adenoid morphology

description: Any abnormality of nasopharyngeal adenoids.


name: Abnormality nasal septum cartilage morphology

description: An abnormality of a cartilage of nasal septum.


Abnormality of cervical plexus

description: Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.


Abnormal head blood vessel morphology

description: An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.


Abnormal neck blood vessel morphology

description: An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.


Abnormal cricoid cartilage morphology

description: Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.


Abnormality of dorsal nasal artery

description: An abnormality of a dorsal nasal artery.


Abnormality of ethmoid sinus

description: An abnormality of an ethmoid sinus.


Abnormal jugular vein morphology

description: Any structural abnormality of a jugular vein.


Abnormal facial vein morphology

description: An abnormality of a facial vein.


name: Abnormality of frontal process of maxilla

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


Abnormality of genioglossus muscle

description: An abnormality of a genioglossus muscle.


Abnormal geniohyoid muscle morphology

description: An abnormality of a geniohyoid muscle.


name: Abnormal glossopharyngeal nerve morphology

description: Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).


name: Abnormal great auricular nerve morphology

description: Any structural anomaly of a great auricular nerve.


name: Abnormal greater palatine artery morphology

description: An abnormality of a greater palatine artery.


Abnormal odontoid tissue morphology

description: An abnormality of an odontoid tissue.


Abnormal hyoglossus muscle morphology

description: An abnormality of a hyoglossus muscle.


Abnormal hyoid bone morphology

description: Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.


Abnormal hypopharynx morphology

description: A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.


name: Abnormal inferior alveolar artery morphology

description: An abnormality of an inferior alveolar artery.


Abnormality of inferior alveolar nerve

description: An abnormality of an inferior alveolar nerve.


Abnormality of artery of lower lip

description: An abnormality of an artery of lower lip.


name: Abnormality of inferior oblique extraocular muscle

description: An abnormality of an inferior oblique extraocular muscle.


name: Abnormality of inferior rectus extraocular muscle

description: An abnormality of an inferior rectus extraocular muscle.


name: Abnormal inferior thyroid vein morphology

description: An abnormality of an inferior thyroid vein.


Abnormal infraorbital artery morphology

description: An abnormality of an infraorbital artery.


Abnormality of infra-orbital nerve

description: A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.


name: Abnormal internal carotid artery morphology

description: An abnormality of an internal carotid artery.


Abnormality of internal jugular vein

description: An abnormality of an internal jugular vein.


name: Abnormality of intrinsic muscle of tongue

description: An abnormality of an intrinsic muscle of tongue.


Abnormal lacrimal artery morphology

description: An abnormality of a lacrimal artery.


Abnormal lacrimal sac morphology

description: An abnormality of a lacrimal sac.


name: Abnormal lateral cricoarytenoid muscle morphology

description: Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.


Abnormality of lateral pterygoid muscle

description: An abnormality of a lateral pterygoid muscle.


name: Abnormality of lateral rectus extra-ocular muscle

description: An abnormality of a lateral rectus extra-ocular muscle.


Abnormality of levator anguli oris

description: An abnormality of a levator anguli oris.


Abnormality of levator labii superioris

description: An abnormality of a levator labii superioris.


name: Abnormal levator palpebrae superioris morphology

description: An abnormality of a levator palpebrae superioris.


name: Abnormality of levator veli palatini muscle

description: An abnormality of a levator veli palatini.


Abnormal lingual artery morphology

description: Any structural abnormality of a lingual artery.


Abnormal lingual nerve morphology

description: Any structural anomaly of a lingual nerve.


Abnormality of lingual tonsil

description: An abnormality of a lingual tonsil.


name: Abnormal mandible condylar process morphology

description: An abnormality of a mandible condylar process.


name: Abnormal mandible coronoid process morphology

description: An abnormality of a mandible coronoid process.


name: Abnormal mandibular symphysis morphology

description: A structural abnormality of a mandibular symphysis.


name: Abnormal cardiac magnetic resonance imaging finding

description: Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.


Elevated myocardial native T2

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