Increased concentration of galactosylated oligosaccharides in urine

Increased urinary galactosylated oligosaccharide

An abnormal increase in the concentration of galactosylated oligosaccharides in urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]


Increased concentration of high-mannose-type oligosaccharides in urine

Increased urinary high-mannose-type oligosaccharide

An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]


Increase concentration of multiantennary sialylated oligosaccharides in urine

Increased urinary multiantennary sialylated oligosaccharide

An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:23676310]


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

An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level. [https://orcid.org/0000-0001-9969-8610, PMID:16385447]


Increased concentration of fucosylated oligosaccharides in urine

Increased urinary fucosylated oligosaccharide

An abnormal increase in the concentrationl of small fucosylated oligosaccharides in the urine. [https://orcid.org/0000-0001-9969-8610, PMID:25251875]


Abnormal concentration of complex N-glycans on glycoproteins

An abnormal concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]


Increased concentration of complex N-glycans on glycoproteins

An abnormal increase in the concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


Increased truncated complex N-glycans on glycoproteins

An abnormal decrease in the concentration of complex N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:21385794]


Increased concentration of sialylated N-glycans on glycoproteins

An abnormal increase in the concentration of sialylated N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


Decreased concentration of sialylated N-glycans on glycoproteins

An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:23430903]


Abnormal high-mannose N-glycans on glycoprotein concentration

An abnormal concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]


Increased high-mannose N-glycans on glycoprotein concentration

An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:23928051]


Decreased high-mannose N-glycans on glycoprotein concentration

An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


An abnormal in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610]


An abnormal increase in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:14578315]


An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


Increased sialyl T-antigen concentration

Increased monosialylated core 1 O-glycan level

An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:25142811]


Decreased sialyl T-antigen concentration

Decreased monosialylated core 1 O-glycan level

An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


Increased disialyl T-antigen concentration

Increased disialylated core 1 O-glycan level

An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


An abnormal increase in the concentration of globoside Gb4. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


An abnormal increase in the concentration of glycolipid globoside Gb3. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


The absence of ganglioside GM3. [https://orcid.org/0000-0001-9969-8610, PMID:24026681]


Increased O-GalNac on glycoprotein concentration

An abnormal increase in the concentration of Tn antigen on glycoproteins. [https://orcid.org/0000-0001-9969-8610, PMID:16251947]


Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells

Abnormal proportion of CD4+CD45RA+ cells

Abnormal proportion of naive CD4 T cells

Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. [PMID:22474485]


Abnormal proportion of naive CD8 T cells

Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]


Increased proportion of CD4+CD45RA+ cells

Elevated proportion of naive CD4 T cells

Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells

Increased proportion of naive CD4 T cells


Elevated proportion of naive CD8 T cells

Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells

Increased proportion of naive CD8 T cells

An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]


Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells

Decreased proportion of naive CD8 T cells

An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. [PMID:26700072]


Decreased proportion of CD4+CD45RA+ cells

Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells

Decreased proportion of naive CD4 T cells

An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells. [PMID:22474485]


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

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. [CL:0000897]


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

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. [PMID:20146720, PMID:28481945]


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

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. [PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


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. [PMID:20146720]


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

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. [CL:0000897]


Decreased proportion of CD4-positive central memory cells

Decreased proportion of CD4+ central memory cells

Decreased proportion of central memory CD4+, alpha-beta T cell

Reduced proportion of CD4+ central memory cells

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

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. [PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


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

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. [CL:0000897]


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

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. [PMID:20146720]


Elevated proportion central memory CD4-positive, alpha-beta T cells

Increased proportion of CD4+ central memory cells

Elevated proportion of CD4+ central memory cells

Increased proportion of central memory CD4+, alpha-beta T cell

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

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. [PMID:22343568]


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

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. [PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


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

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. [PMID:20146720, PMID:22343568]


Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts. [MP:0000647]


Applies to a sign or symptom that is exacerbated in the evening as compared to the day. [https://orcid.org/0000-0002-0736-9199]


Abnormal circulating aspartate concentration

Abnormal circulating aspartic acid concentration

Any deviation from the normal concentration of aspartate in the blood circulation. [ORCID:0000-0001-7941-2961]


Decreased blood ornithine concentrations

An abnormal decrease in ornithine in the blood. [http://orcid.org/0000-0001-7941-2961]


Abnormal CO2 levels in blood
Abnormal blood carbon dioxide level

An abnormality of carbon dioxide (CO2) in the arterial blood. [http://orcid.org/0000-0001-7941-2961]


Abnormal circulating gastrin concentration

An abnormal concentration of gastrin in the blood. [http://orcid.org/0000-0001-7941-2961]


Abnormal concentration of acylcarnitine in the urine

An abnormal amount of acylcarnitine in the urine. [http://orcid.org/0000-0001-7941-2961]


Abnormal circulating amino sulfonic acid concentration


Increased circulating taurine levels in the blood

An increased amount of taurine in the blood. []


Lower blood levels of taurine
Decreased circulating taurine levels
Reduced taurine levels in the blood

A decreased amount of taurine in the blood. []


Abnormal CSF carboxylic acid concentration

Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. []


Abnormal amino acid levels in cerebrospinal fluid

Abnormal cerebrospinal fluid amino acid level

Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal branched-chain amino acid levels in cerbrospinal fluid

Abnormal CSF branched chain amino acid concentration

Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal valine levels in cerebrospinal fluid

Any deviation from the normal concentration of valine in the cerebrospinal fluid. [PMID:715764]


High valine levels in cerebrospinal fluid

Any increased amount from normal of valine in the cerebrospinal fluid. [PMID:715764]


Low valine levels in cerebrospinal fluid

Any decreased amount from normal of valine in the cerebrospinal fluid. [PMID:715764]


Abnormal leucine levels in cerebrospinal fluid

Any deviation from the normal concentration of leucine in the cerebrospinal fluid. [PMID:715764]


Low leucine levels in cerebrospinal fluid

Abnormally decreased levels of leucine in the cerebrospinal fluid. [PMID:715764]


High leucine levels in cerebrospinal fluid

Abnormally increased levels of leucine in cerebrospinal fluid. [PMID:715764]


Abnormal isoleucine levels in cerebrospinal fluid

Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. [PMID:715764]


High levels of isoleucine in cerebrospinal fluid

Abnormally increased levels of isoleucine in cerebrospinal fluid. [PMID:715764]


Low levels of isoleucine in cerebrospinal fluid

Abnormally decreased levels of isoleucine in cerebrospinal fluid. [PMID:715764]


Abnormal glutamine family amino acid levels in cerebrospinal fluid

Abnormal CSF glutamine family amino acid concentration

Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal glutamine levels in cerebrospinal fluid

Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. [PMID:715764]


High glutamine levels in cerebrospinal fluid

Abnormally increased levels of glutamine in cerebrospinal fluid. [PMID:715764]


Low glutamine levels in cerebrospinal fluid

Abnormally decreased levels of glutamine in cerebrospinal fluid. [PMID:715764]


Abnormal glutamic acid levels in cerebrospinal fluid

Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. [PMID:715764]


High glutamic acid levels in cerebrospinal fluid

Abnormally increased levels of glutamic acid in cerebrospinal fluid. [PMID:715764]


Low glutamic acid levels in cerebrospinal fluid

Abnormally decreased levels of glutamic acid in cerebrospinal fluid. [PMID:715764]


Abnormal arginine levels in cerebrospinal fluid

Any deviation from the normal concentration of arginine in the cerebrospinal fluid. [PMID:715764]


High arginine levels in cerebrospinal fluid

Abnormally increased levels of arginine in cerebrospinal fluid. [PMID:715764]


Low arginine levels in cerebrospinal fluid

Abnormally decreased levels of arginine in cerebrospinal fluid. [PMID:715764]


Abnormal aspartate-family amino acid levels in cerebrospinal fluid

Abnormal CSF aspartate family amino acid concentration

Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal lysine levels in cerebrospinal fluid

Any deviation from the normal concentration of lysine in the cerebrospinal fluid. [PMID:715764]


Low lysine levels in cerebrospinal fluid

Abnormally decreased levels of lysine in cerebrospinal fluid. [PMID:715764]


High lysine levels in cerebrospinal fluid

Abnormally increased levels of lysine in cerebrospinal fluid. []


Abnormal methionine levels in cerebrospinal fluid

Any deviation from the normal concentration of methionine in the cerebrospinal fluid. [PMID:715764]


High methionine levels in cerebrospinal fluid

Abnormally increased levels of methionine in cerebrospinal fluid. [PMID:715764]


Abnormal threonine levels in cerebrospinal fluid

Any deviation from the normal concentration of threonine in the cerebrospinal fluid. [PMID:715764]


High threonine levels in cerebrospinal fluid

Abnormally increased levels of threonine in cerebrospinal fluid. [PMID:715764]


Low threonine levels in the cerebrospinal fluid

Abnormally decreased levels of threonine in cerebrospinal fluid. [PMID:715764]


Abnormal aromatic amino acid levels in cerebrospinal fluid

Abnormal CSF aromatic amino acid concentration

Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal phenylalanine levels in cerebrospinal fluid

Abnormal CSF phenylalanine concentration

Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. [PMID:715764]


Abnormal CSF aspartic acid concentration

Abnormal aspartic acid levels in cerebrospinal fluid

Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid. []


High aspartic acid levels in cerebrospinal fluid

Increased CSF aspartic acid concentration

Abnormally increased levels of aspartic acid in cerebrospinal fluid. [PMID:715764]


Abnormal tryptophan levels in cerebrospinal fluid

Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid. [PMID:715764]


Abnormal tyrosine levels in cerebrospinal fluid

Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. [PMID:715764]


High tyrosine levels in cerebrospinal fluid

Abnormally increased levels of tyrosine in cerebrospinal fluid. [PMID:715764]


Low tyrosine levels in the cerebrospinal fluid

Abnormally decreased levels of tyrosine in cerebrospinal fluid. [PMID:715764]


High tryptophan levels in cerebrospinal fluid

Abnormally increased levels of tryptophan in cerebrospinal fluid. [PMID:715764]


High phenylalanine levels in cerebrospinal fluid

Increased CSF phenylalanine concentration

Abnormally increased levels of phenylalanine in cerebrospinal fluid. [PMID:715764]


Low phenylalanine levels in cerebrospinal fluid

Decreased CSF phenylalanine concentration

Abnormally decreased levels of phenylalanine in cerebrospinal fluid. [PMID:715764]


Abnormal serine-family amino acid levels in cerebrospinal fluid

Abnormal CSF serine family amino acid concentration

Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. [PMID:715764]


Abnormal serine levels in cerebrospinal fluid

Any deviation from the normal concentration of serine in the cerebrospinal fluid. [PMID:715764]


High serine levels in cerebrospinal fluid

Abnormally increased levels of serine in cerebrospinal fluid. [PMID:715764]


Low serine levels in cerebrospinal fluid

Abnormally decreased levels of serine in cerebrospinal fluid. [PMID:715764]


Abnormal glycine levels in cerebrospinal fluid

Any deviation from the normal concentration of glycine in the cerebrospinal fluid. [PMID:715764]


High glycine levels in cerebrospinal fluid

Abnormally increased levels of glycine in cerebrospinal fluid. [PMID:715764]


Abnormal pyruvate-family amino acid levels in cerebrospinal fluid

Abnormal CSF pyruvate family amino acid concentration

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


Abnormal alanine levels in cerebrospinal fluid

Any deviation from the normal concentration of alanine in the cerebrospinal fluid. [PMID:715764]


High alanine levels in cerebrospinal fluid

Abnormally increased levels of alanine in cerebrospinal fluid. [PMID:715764]


Low alanine levels in cerebrospinal fluid

Abnormally decreased levels of alanine in cerebrospinal fluid. [PMID:715764]


Abnormal histidine levels in cerebrospinal fluid

Any deviation from the normal concentration of histidine in the cerebrospinal fluid. [PMID:715764]


High histidine levels in cerebrospinal fluid

Abnormally increased levels of histidine in cerebrospinal fluid. [PMID:715764]


Low histidine levels in cerebrospinal fluid

Abnormally decreased levels of histidine in cerebrospinal fluid. [PMID:715764]


Abnormal albumin levels in cerebrospinal fluid

Any deviation from the normal concentration of albumin in the cerebrospinal fluid. [PMID:27067000]


High albumin levels in cerebrospinal fluid


Abnormal carnosine levels in cerebrospinal fluid

Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. [PMID:16341596]


Abnormal homocarnosine levels in cerebrospinal fluid

Abnormal CSF homocarnosine concentration

Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. [PMID:16341596]


High homocarnosine levels in cerebrospinal fluid

Increased CSF homocarnosine concentration

Abnormally increased levels of homocarnosine in cerebrospinal fluid. [PMID:16341596]


Abnormal ornithine levels in cerebrospinal fluid

Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. [PMID:20551690]


High ornithine levels in cerebrospinal fluid

Abnormally increased levels of ornithine in cerebrospinal fluid. [PMID:20551690]


Abnormal citrulline levels in cerebrospinal fluid

Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. [PMID:16793028]


High citrulline levels in cerebrospinal fluid

Abnormally increased levels of citrulline in cerebrospinal fluid. [PMID:16793028]


Abnormal alpha-aminobutyrate levels in cerebrospinal fluid

Abnormal CSF alpha-aminobutyrate concentration

Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. [PMID:3397910]


High alpha-aminobutyrate levels in cerebrospinal fluid

Increased CSF alpha-aminobutyrate concentration

Abnormally increased levels of alpha-aminobutyrate in cerebrospinal fluid. [PMID:3397910]


Abnormal ethanolamine levels in the blood

Abnormal circulating ethanolamine concentration

Any deviation from the normal concentration of ethanolamine in circulation. [PMID:28785375]


Increased circulating ethanolamine concentration

Abnormally increased levels of ethanolamine in circulation. [PMID:28785375]


Abnormal urine decanedioic acid concentration

Abnormal urine sebacic acid concentration

Abnormal concentration of sebacic acid in the urine. [PMID:25051233]


Increased urine decanedioic acid concentration

Increased urine sebacic acid concentration

Elevated concentration of sebacic acid in the urine. [PMID:25051233]


Abnormal urinary N-hexanoylglycine levels

Abnormal urine hexanoylglycine concentration

Abnormal concentration of hexanoylglycine in the urine. [PMID:2775902]


Elevated urinary N-hexanoylglycine concentration

Increased level of hexanoylglycine in urine

Elevated concentration of hexanoylglycine in the urine. [PMID:2775902]


Abnormal urinary isobutyrylglycine levels

Abnormal urine isobutyrylglycine concentration

Abnormal concentration of isobutyrylglycine in the urine. [PMID:28053874]


Increased urine isobutyrylglycine concentration

Elevated concentration of isobutyrylglycine in the urine. [PMID:28053874]


Abnormal umbilical cord blood levels of carbon dioxide

Abnormal carbon dioxide level in cord blood

Abnormal amount of carbon dioxide in umbilical cord blood []


Abnormal oxygen amount in umbilical cord blood

An abnormal level of blood oxygen in the cord blood. []


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


Anesthetics trigger episodes
Anaesthetics trigger episodes
Anaesthetics triggered symptoms
Triggered by anaesthetics
Anesthetics triggered symptoms

Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics. []


Infection with the rubella virus of the live-attenuated vaccine. []


An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide. [PMID:11148005, PMID:17042927]


Noncancerous growth of membranes covering brain


Abnormal circulating sarcosine concentration

An deviation from the normal concentration of sarcosine in the blood circulation. [HPO:probinson]


Abnormal circulating long-chain fatty-acid concentration

Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation. [HPO:probinson]


Abnormally high fecal pH, i.e., abnormal alkalinity of feces. []


An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2A particle is defined as an HDL particle with a size of 8.80-9.69 nm. [PMID:17291473]


Anti-myelin-associated glycoprotein antibody positivity

The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG). [PMID:16969155]


Decreased circulating IgG subclass level

A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood. [PMID:17910333]


A separation (dissection) of the layers of the celiac artery wall. [PMID:32938213]


A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. [HPO:probinson, PMID:19152422]


Decreased sweating on the palms and soles. [PMID:24664640]


Anemia in which the red blood cell volume is decreased.


The presence of dysplastic regions in metaphyseal regions. [HPO:sdoelken]


Absent left hemidiaphragm
Left diaphragmatic hernia

Congenital absence of the left half of the diaphragm. [HPO:probinson]


Prednisone-responsive anaemia
Prednisone-responsive anemia
Steroid-responsive anaemia

Amelioration of anemia upon treatment with a steroid medication. [PMID:20651069]


Abnormal tortuous (i.e., twisted) form of the vertebral arteries. []


Increased circulating prolactin concentration

Abnormally high level of prolactin in the blood.


A lower than average level of platelets in a sample.


Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. [DDD:gblack]


A partial or complete breakage of the epiphysis. []


Increased urinary neutrophil gelatinase-associated lipocalin

An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter). [PMID:18725016]


Abnormality of circulating adrenocorticotropic hormone level


Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. [PMID:11851880, PMID:25487405]


Congenital absence of the radial artery. [PMID:24650137]


Abnormal retinal nerve fibre layer morphology

Abnormal retinal nerve fiber layer morphology

A structural abnormality of the retinal nerve fiber layer []


Swelling (edema) of the retinal nerve fibers. []


Conception by assisted reproductive technology

A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation. [PMID:28844405]


Conjunctival avascular cysts (filtering blebs)

Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma. [PMID:24768550, PMID:8749053]


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


Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell. [ORCID:0000-0001-5208-3432, PMID:27863011]


Any deviation of the concentration of one or more proteins in the urine. []


Abnormal tubular basement membrane morphology

Abnormal structure of the basement membrane of the renal tubulus. []


Glomerular visceral epithelial cell hypertrophy

Hypertrophy of visceral epithelial cells

Increased visceral epithelial cell size, with or without cytoplasmic protein droplets. [PMID:15610239, PMID:32866505]


Abnormally increased count of neutrophils in urine. [JGM:lccarmody]


The presence of circulating IgG autoantibodies to cardiolipin. [PMID:30256771]


The presence of circulating IgM autoantibodies to cardiolipin. [PMID:30256771]


Medical history of a recent bite injury due to an animal. [PMID:26179017]


Medical history of a recent bite injury due to an insect. [PMID:24364549]


Medical history of a recent bite injury due to a tick. [PMID:24364549]


Blood pressure substantially higher in lower than upper extremities

Blood pressure substantially lower in upper than lower extremities

Blood pressure substantially lower in arms than legs

Blood pressure substantially higher in legs than arms

An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. [PMID:12101189]


Increased arm-leg blood pressure gradient

Blood pressure substantially higher in upper than lower extremities

Blood pressure substantially higher in arms than legs

An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm. [PMID:28377475]


A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium. [PMID:25313910]


The presence of calcium phosphate crystals in the urine. [PMID:26509782, PMID:3599249, PMID:8671802]


The presence of calcium oxalate crystals in the urine. [PMID:26509782, PMID:3599249, PMID:8671802]


The presence of calcium carbonate crystals in the urine. [PMID:26509782, PMID:8671802]


An abnormally elevated concentration od mead acid in the blood circulation. [PMID:25440954]


An increase concentration of succinate in the blood circulation. [PMID:29434314]


Elevated urinary Tamm-Horsfall protein concentration

An increased amount of uromodulin (also known as Tamm Horsfall protein) in the urine. [PMID:28781372]


Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis. [PMID:27475024]


An abnormal structure of the female germ cell (egg cell). []


Abnormal structure of the oocyte extracellular matrix region known as teh zona pellucida. [PMID:26329136]


Reduced thickness of the zona pellucida. [PMID:7657763]


Increased circulating docosatetraenoate level

Increased circulating adrenic acid concentration

An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation. [PMID:28456640, UCDenver:tjcallahan]


Reduce response to GnRH stimulation test

Reduced response to gonadotropin-releasing hormone stimulation test

Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. [PMID:22723321]


Cellular accumulation of GM1 gangliosides. [PMID:9063740]


An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. [ORCID:0000-0002-7440-8864, PMID:16948615]


Increased serum drug concentration
Increased plasma drug concentration
Elevated serum drug concentrations
Elevated plasma drug concentration
Elevated blood drug concentration

High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. [ORCID:0000-0002-7440-8864, PMID:26075072]


Decreased serum drug concentration
Decreased plasma drug concentration
Reduced blood drug concentration
Reduced serum drug concentrations
Reduced plasma drug concentration

Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime. [ORCID:0000-0002-7440-8864, PMID:26075072]


Decreased response to a drug intervention in comparison to the expected response. [ORCID:0000-0002-7440-8864, PMID:26178435]


A decreased amount of cholinesterase in the blood circulation. [PMID:29853783, UCDenver:tjcallahan]


Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated

Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells

An abnormal 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. []


A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). [CL:0000451, PMID:15795906]


A deviation from the normal concentration of haptoglobin in the blood circulation. [PMID:24809098]


An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation. [PMID:24809098]


An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. [PMID:24809098]


Abnormal A-type atrial natriuretic peptide level

A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]


Increased circulating A-type natriuretic peptide level

A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]


Decreased circulating A-type natriuretic peptide level

A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure. [PMID:28552863, RGD:SJWang]


Abnormal morphological development of the superior part of the cerebellum. []


Pachygyria with cortical thickness above 10 mm

Pachygyria with cortical thickness > 10 mm

Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [PMID:28440899]


Anterior predominant pachygyria with 5-10 mm cortical thickness

Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]


Pachygyria with cortical thickness over 10 mm posterior predominant

Occipital predomimant classic pachygyria

Posterior predominant thick cortex pachygyria

Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]


Pachygyria with cortical thickness > 10 mm perisylvian predominant

Perisylvian predominant thick cortex pachygyria

Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. [COST:neuromig, PMID:28440899]


Pachygyria with cortical thickness > 10 mm anterior predominant

Anterior predominant thick cortex pachygyria

Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. [COST:neuromig]


Pachygyria with 5-10 mm cortical thickness

Pachygyria with a mildly thickend cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age. [COST:neuromig, PMID:28440899]


An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds. [PMID:23546720]


An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:25125965]


An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:22301495]


An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells. [PMID:17403946]


Increased circulating arachidonate level

Increased circulating arachidonic acid level

Increased circulating arachidonic acid concentration

An increased circulation of arachidonic acid in the blood circulation. [PMID:30034875, UCDenver:tjcallahan]


Abnormal circulating 18-hydroxycorticosterone level

Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation. [PMID:2669615]


Decreased circulating 18-hydroxycortisone level

A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation. []


Increased circulating 18-hydroxycortisone level

An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. [PMID:22238407]


Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck. []


Abnormally elevated placental thickness. [PMID:25077064]


Tonic neck reflex asymmetrical and persistent

Persistent asymmetrical tonic neck reflex

Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers. [PMID:441119]


Enlarged, oval-shaped erythrocytes (red blood cells). [ORCID:0000-0001-9969-8610, PMID:16988104, PMID:19202968, PMID:28821482]


Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. [PMID:28593486]


The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. [PMID:6155073]


An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. [PMID:3460353]


An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. [PMID:46759]


An increased number of mitochondria detected in neutrophils. [PMID:6155073]


An increased number of ribosomes detected in neutrophils. [PMID:6155073]


Decreased expression of GPI-anchored proteins on the cell surface

A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. [PMID:26293662]


Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis. []


In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential. []


In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential. []


Increased hepatitis A virus antibody level

An abnormally increased level of immunoglobulin against hepatitis A virus in the blood. []


Increased hepatitis B virus antibody level

An abnormally increased level of immunoglobulin against hepatitis B virus in the blood. []


Increased hepatitis C virus antibody level

An abnormally increased level of immunoglobulin against hepatitis C virus in the blood. []


Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. [PMID:24034073, PMID:26538887]


A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting.


Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction. [ORCID:0000-0002-2234-4248, PMID:18322164, PMID:19668250]


Inappropriately normal thyroid-stimulating hormone level

A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. [PMID:12519407, PMID:28932413]


Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip. [PMID:22938878, PMID:32529201]


Sperm flagella with irregular caliber
Sperm flagella with irregular calibre

Irregular or changing caliber (diameter) along the tail of the sperm. [PMID:26472152]


An acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage.


Decreased serum IgG
Decreased IgG level in blood

An abnormally decreased level of immunoglobulin G (IgG) in blood. [HPO:probinson]


Decreased glucose phosphate isomerase activity

Decreased glucosephosphate isomerase level

A decreased level of glucose-6-phosphate isomerase. [HPO:gcarletti]


Decreased proportion of CD4-positive helper T cells

A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. [HPO:probinson]


Swelling of the chorionic villi owing to fluid accumulation. [PMID:26992676]


Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. [PMID:31839203]


Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain. []


An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. [PMID:24874532]


Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. [PMID:11827888]


An increased level of gamma globulin (immunoglobulin) in the blood. [HPO:probinson]


Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. []


Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. [PMID:22028589]


Renal tubulointerstitial bacterial organisms

Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains. [KPMP:arosenberg]


Renal tubulointerstitial fungal organisms

Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains. [KPMP:arosenberg]


A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. [ORCID:0000-0002-1735-8178, PMID:11422340]


A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger. [ORCID:0000-0002-1735-8178, PMID:11422340]


A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making. [ORCID:0000-0002-1735-8178, PMID:11422340, PMID:24512781]


A seizure precipitated by movement or a change in posture. [ORCID:0000-0002-1735-8178, PMID:11422340]


A seizure precipitated by reading. [ORCID:0000-0002-1735-8178, PMID:11422340]


A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise. [ORCID:0000-0002-1735-8178, PMID:11422340]


Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus. [ORCID:0000-0002-1735-8178, PMID:11422340]


Seizures induced by thinking and decision-making.ncomment: [ORCID:0000-0002-1735-8178, PMID:11422340]


A type of focal motor seizure in which awareness is retained throughout the seizure. [ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276064]


A type of focal atonic seizure during which awareness is fully retained throughout. [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]


Segmental hypotonic seizure
Segmental atonic seizure
Localized atonic seizure
Partial atonic seizure
Localised hypotonic seizure
Localised atonic seizure
Localized hypotonic seizure
Partial hypotonic seizure

A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature. [ORCID:0000-0002-1735-8178, PMID:11580774, PMID:28276060, PMID:28276064]


Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons. [PMID:16324092]


An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. [PMID:30918116]


Abnormal urinary nucleobase concentration

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


Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond. [PMID:30847922]


Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond. [PMID:30847922]


Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration

A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. [PMID:25102815]


Intracellular accumulation of Dol-PP-GlcNAc2Man5

Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol. [ORCID:0000-0001-5208-3432, PMID:10581255, PMID:16053906, PMID:28575298]


Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone. [PMID:24688753]


Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis. [PMID:25274757]


Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. [PMID:25813241]


Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles. [PMID:19672113, PMID:25887903]


Renal interstitial neutrophil infiltration

Increased numbers of neutrophils in the interstitial tissues of the kidney. [PMID:29537990]


Renal interstitial eosinophil infiltration

Increased numbers of eosinophils in the interstitial tissues of the kidney. [PMID:10052481, PMID:20336051]


Renal interstitial plasma cell infiltration

Increased numbers of plasma cells in the interstitial tissues of the kidney. [PMID:28904438]


Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. [PMID:20345957]


Infiltration of the renal tubular epithelium by lymphocytes. [PMID:29537990]


Infiltration of the renal tubular epithelium by neutrophils. [PMID:29537990]


Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney. [PMID:26491580]


Renal tubular basement membrane denudation

Naked basement membranes without tubular epithelium. [PMID:29875323]


Renal tubular epithelial cell detachment

Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved. [PMID:29537990]


Renal tubular epithelial cell cytoplasmic vacuolization

Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size. [PMID:29537990]


At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast. [PMID:29537990]


Blebbing of apical cytoplasm of renal tubular epithelial cells

Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule. [PMID:29537990]


Abnormal renal tubular epithelial morphology

Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine. []


Renal tubular epithelial cell hyaline droplets

Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell. [PMID:29537990]


Multinucleation of renal tubular epithelial cells

Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view. [PMID:29537990]


Prominent nucleoli of renal tubular epithelial cells

Tubular epithelium with nucleoli clearly visible at 100-fold magnification. [PMID:29537990]


Renal tubular epithelial cell simplification

Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts. [PMID:29537990]


Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration. [PMID:29537990]


High N/C ratio of renal tubular epithelial cells

High renal tubular epithelial cell N/C ratio

At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei. [PMID:29537990]


Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules. [PMID:31076149]


Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen. [PMID:29537990]


A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts. [KPMP:arosenberg, PMID:27211375]


Endocrinization pattern of tubular atrophy

A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes. [KPMP:arosenberg, PMID:27211375, PMID:7906246]


Renal tubulointerstitial mycobacterial organisms

Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation. [PMID:23303798]


Renal tubular epithelial cell hemosiderin

Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment. [KPMP:arosenberg, PMID:25441434, PMID:29537990]


Renal interstitial amyloidosis
Renal interstitial amyloid
Renal interstitial amyloid deposition

Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation. [KPMP:arosenberg, PMID:25852856]


Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries. [PMID:21427073]


Diffusion weighted imaging (DWI) abnormality

Diffusion weighted magnetic resonance imaging (DWI) abnormality

MRI diffusion abnormality of the cerebrum

Abnormal diffusion weighted cerebral MRI morphology

A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. [ORCID:0000-0002-7440-8864, PMID:11058626]


Renal interstitial immunoglobulin deposition

Renal interstitial immunoglobulin deposits

Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining). [PMID:11423587, PMID:28509073]


A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core. [KPMP:arosenberg, PMID:20709744, PMID:29537990]


Condensed chromatin of renal tubular epithelial cells

Hyperchromasia of renal tubular epithelial cells

At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes. [KPMP:arosenberg, PMID:29537990]


Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. [KPMP:arosenberg, PMID:29537990]


Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast. [KPMP:arosenberg, PMID:29537990]


A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green). [PMID:28398539]


Casts that contain red blood cells and are located within the tubuli of the kidney. [PMID:21959738]


Intratubular casts composed of vancomycin aggregates and uromodulin. []


Casts that contain white blood cells and are located within the tubuli of the kidney. []


Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver. [PMID:20064951]


The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules. [KPMP:arosenberg, PMID:26916380]


A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A. [KPMP:arosenberg, PMID:25441434]


Intratubular Tamm-Horsfall (uromodulin) casts

A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends. [KPMP:arosenberg, PMID:393892]


Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells. [KPMP:arosenberg, PMID:28115066, PMID:29942498]


Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain. [KPMP:arosenberg]


Renal tubulointerstitial viral inclusions

Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry. []


Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density. [KPMP:arosenberg, PMID:24454932]


Elevated urine mevalonate
Elevated urine mevalonate levels
Mevalonate aciduria

An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. [PMID:3680522]


An increased concentration of cystine within white blood cells. [PMID:27102039, PMID:31892015]


Increased C-C motif chemokine ligand 18 concentration

An increased concentration of C-C motif chemokine ligand 18 in the blood circulation. [PMID:15784687]


Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present. [KPMP:arosenberg, PMID:26413275]


Renal interstitial necrotizing granulomata

Renal interstitial necrotizing granulomas

An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation. [KPMP:arosenberg, PMID:31723695]


Renal interstitial non-necrotizing granulomata

Renal interstitial non-necrotizing granulomas

Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occcasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis. [KPMP:arosenberg]


Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney. []


Renal interstitial mononuclear cell infiltration

Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei). [KPMP:arosenberg]


Renal interstitial xanthogranulomatous inflammation

Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells. [PMID:21526966]


Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells arre rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris. [KPMP:arosenberg, PMID:29537990]


The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus. [PMID:29537990]


A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. [PMID:9916191]


Elevated CSF glial fibrillary acidic protein level

Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid. [PMID:31892365]


Elevated CSF chitinase-3-like protein 1 level

Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid. [PMID:31892365]


Increased concentration of chitotriosidase 1 in cerebrospinal fluid. [PMID:31892365]


An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. [PMID:28088395]


Impaired flow-mediated arterial dilatation

Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery. [PMID:11069434]


Decreased adipose tissue tocopherol level

A reduced concentration of tocopherol in fat tissue. [PMID:27520363]


A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult. [ORCID:0000-0002-1735-8178, PMID:22742587, PMID:24502379, PMID:26336950]


Elevated circulating lyso-globotriaosylsphingosine concentration

An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation. [PMID:29288396, PMID:30875019]


Status epilepticus with prominent motor symptoms

Status epilepticus with prominent motor signs during the prolonged seizure. [ORCID:0000-0002-1735-8178, PMID:26336950]


Non-convulsive status epilepticus with coma

A type of status epilepticus without prominent motor symptoms and in the presence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]


Secondarily generalised convulsive status epilepticus

Partial-onset seizure evolving into convulsive status epilepticus

Focal onset seizure evolving into bilateral convulsive status epilepticus

Partial onset seizure evolving into convulsive status epilepticus

Secondarily generalized convulsive status epilepticus

Focal-onset seizure evolving into generalized convulsive status epilepticus

Focal-onset seizure evolving into generalised convulsive status epilepticus

Secondarily generalised tonic-clonic status epilepticus

Secondarily generalized tonic-clonic status epilepticus

Focal-onset seizure evolving into bilateral convulsive status epilepticus

A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus. [PMID:26336950]


A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus. [ORCID:0000-0002-1735-8178, PMID:26336950]


A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus. [ORCID:0000-0002-1735-8178, PMID:21070217, PMID:26336950]


Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements. [ORCID:0000-0002-1735-8178, PMID:26336950]


A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. [ORCID:0000-0002-1735-8178, PMID:26336950]


Myoclonic status epilepticus without coma

A type of myoclonic status epilepticus in the absence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]


A type of myoclonic status epilepticus in the presence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]


Non-convulsive status epilepticus without coma

A type of status epilepticus without prominent motor symptoms in the absence of coma. [ORCID:0000-0002-1735-8178, PMID:26336950]


Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal. [ORCID:0000-0002-1735-8178, PMID:26336950]


Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure. [ORCID:0000-0002-1735-8178, PMID:26336950]


A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin. [PMID:30475656]


A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. [PMID:8166487]


An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. [HPO:epilepsiome, PMID:19469840]


Partial seizure without motor onset
Focal seizure without motor onset

A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. [PMID:28276060, PMID:28276064]


A focal aware cognitive seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]


A focal non-motor seizure in which awareness is retained throughout the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]


Focal aware cognitive seizure with auditory agnosia

A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal cognitive seizure with auditory agnosia

A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing. [PMID:28276060]


Focal aware cognitive seizure with memory impairment

A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal cognitive seizure with memory impairment

A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia). [PMID:17444534]


Focal aware cognitive seizure with dissociation

A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal cognitive seizure with dissociation

A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation. [PMID:28276060]


Focal aware cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with forced thinking

A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation. [PMID:28276060]


A focal cognitive seizure characterized by neglect as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with dyslexia/alexia

A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with conduction dysphasia/aphasia

A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with left-right confusion

A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation. [PMID:28276060]


A focal cognitive seizure characterized by anomia as the initial semiological manifestation. [PMID:28276060]


Focal cognitive seizure with expressive dysphasia/aphasia

A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation. [PMID:28276060]


Focal aware cognitive seizure with illusion

A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with forced thinking

A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with left-right confusion

A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with dyslexia/alexia

A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with anomia

A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure. [PMID:28276060]


A type of focal clonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal motor impaired awareness seizure with version

Focal impaired awareness motor seizure with version

A focal motor seizure with version characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness bilateral motor seizure

A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset. [PMID:28276060]


Focal non-motor impaired awareness seizure

Focal impaired awareness non-motor seizure

A focal non-motor seizure characterized by impaired awareness at some point during the seizure. [PMID:28276060, PMID:28276064]


Focal motor impaired awareness seizure with dystonia

Focal impaired awareness motor seizure with dystonia

A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure. [PMID:28276060]


A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures. [PMID:28276060]


Focal motor impaired awareness seizure with dysarthria/anarthria

Focal impaired awareness motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal motor seizure with dysarthria/anarthria

A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible. [PMID:28276060]


Focal motor seizure with paresis/paralysis

A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation. [PMID:28276060]


A type of focal tonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


A focal motor seizure with dystonia characterized by retained awareness throughout the seizure. [PMID:28276060]


A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


Focal impaired awareness hyperkinetic seizure

A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. [PMID:28276060]


A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy. [PMID:28276060, PMID:28276064]


Focal impaired awareness myoclonic seizure

A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal hypermotor seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


Focal motor aware seizure with paresis/paralysis

Focal aware motor seizure with paresis/paralysis

A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal motor aware seizure with dysarthria/anarthria

Focal aware motor seizure with dysarthria/anarthria

A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure. [PMID:28276060]


A focal emotional seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]


Focal aware emotional seizure with anger

Focal emotional seizure with anger in which awareness is retained throughout. [PMID:28276060]


Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behaviour. [PMID:28276060, PMID:28276064]


Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure. [PMID:28276060]


Focal aware emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout. [PMID:28276060, PMID:28276064]


Focal emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures. [PMID:28276060, PMID:28276064]


Localised autonomic seizures without altered responsiveness

Localized autonomic seizures without altered responsiveness

Partial autonomic seizures without altered responsiveness

Focal autonomic seizures without altered responsiveness

A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]


Focal aware emotional seizure with paranoia

Focal emotional seizure with paranoia in which awareness is retained throughout. [PMID:28276060, PMID:28276064]


Focal aware emotional seizure with pleasure

Focal emotional seizure with pleasure in which awareness is retained throughout. [PMID:28276060]


Focal aware emotional seizure with crying

Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout. [PMID:28276060]


Focal aware emotional seizure with agitation

Focal emotional seizure with agitation in which awareness is retained throughout. [PMID:28276060]


Focal aware emotional seizure with laughing

Focal emotional seizure with laughing in which awareness is retained throughout. [PMID:28276060]


Focal impaired awareness emotional seizure

A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]


Focal impaired awareness emotional seizure with pleasure

Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]


Focal impaired awareness emotional seizure with anger

Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness emotional seizure with paranoia

Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness emotional seizure with laughing

Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness emotional seizure with crying

Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness emotional seizure with fear/anxiety/panic

Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]


Focal impaired awareness emotional seizure with agitation

A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


A focal sensory seizure during which awareness is retained throughout the seizure. [PMID:28276060, PMID:28276064]


Focal autonomic seizure with altered responsiveness

Localised autonomic seizure with altered responsiveness

Partial autonomic seizure with altered responsiveness

Localized autonomic seizure with altered responsiveness

Focal impaired awareness autonomic seizure

A focal autonomic seizure characterised by impaired awareness at some point within the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]


Focal impaired awareness cognitive seizure

A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060, PMID:28276064]


A focal hemiclonic seizure in which awareness is retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


A type of focal myoclonic seizure during which awareness is fully retained throughout. [PMID:11580774, PMID:28276060, PMID:28276064]


Partial vestibular seizure
Focal vestibular seizure
Vestibular aura

Focal sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. [PMID:28276060]


Focal sensory seizure with hot-cold sensations

A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation. [PMID:28276060]


Focal aware autonomic seizure with pallor/flushing

A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal autonomic seizure with pallor/flushing

A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature. [PMID:28276060]


Focal autonomic seizure with pupillary dilation/constriction

A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature. [PMID:28276060]


A type of focal autonomic seizure characterised by penile erection as the intial semiological feature. [PMID:28276060]


Focal autonomic seizure with urge to urinate/defecate

A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature. [PMID:28276060]


Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration

A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature. [PMID:28276060]


Focal autonomic seizure with piloerection

A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature. []


Focal aware autonomic seizure with pupillary dilation/constriction

A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware autonomic seizure with erection

A focal autonomic seizure with erection characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal autonomic seizure with lacrimation

A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature. [PMID:28276060]


Focal impaired awareness autonomic seizure with piloerection

A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole

A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. [PMID:28276060]


Focal impaired awareness autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration

An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal aware autonomic seizure with lacrimation


Focal impaired awareness autonomic seizure with pallor/flushing

A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with pupillary dilation/constriction

A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with erection

A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware autonomic seizure with urge to urinate/defecate

A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with lacrimation

A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure. [PMID:28276060]


Focal aware autonomic seizure with piloerection

A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole

An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure. [PMID:28276060]


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

A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure

A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole

A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure. [PMID:28276060]


A focal behavior arrest seizure characterised by retained awareness throughout the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]


Focal impaired awareness behaviour arrest seizure

Focal impaired awareness behavior arrest seizure

A focal behavior arrest seizure characterised by impaired awareness at some point during the seizure. [PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064]


Focal impaired awareness cognitive seizure with anomia

A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia

A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


generalised onset myoclonic-tonic-clonic seizure

generalized onset myoclonic-tonic-clonic seizure

Generalised onset myoclonic-tonic-clonic seizure

A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterised by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus. [PMID:28276060, PMID:28276064]


Focal impaired awareness cognitive seizure with left-right confusion

A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal aware sensory seizure with olfactory features

Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant. [PMID:28276060]


Focal impaired awareness cognitive seizure with neglect

A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness hemiclonic seizure

A focal hemiclonic seizure in which awareness is impaired at some point during the seizure. [PMID:28276060]


Focal aware sensory seizure with vestibular features

A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation. [PMID:28276060]


Focal impaired awareness cognitive seizure with memory impairment

A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with dyscalculia/acalculia

A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness cognitive seizure with dysgraphia/agraphia

A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure with olfactory features

A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure with vestibular features

A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Focal impaired awareness sensory seizure with visual features

A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure. [PMID:28276060]


Neonatal seizure with electrographic correlate

Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. [PMID:28276060]


Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. [PMID:28276060]


Cephalic aura
Focal seizure with cephalic sensation
Partial seizure with cephalic sensation

Focal sensory seizure with cephalic sensation

A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. [PMID:28276060]