78548001: Enzymopathy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Enzymopathy	Is a	Metabolic disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Enzymopathy	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carnitine palmitoyltransferase deficiency	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Muscle adenosine monophosphate deaminase deficiency (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Other deficiencies of circulating enzymes	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Propionyl-CoA carboxylase deficiency	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Essential benign fructosuria	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia due to enzyme deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Drug-induced enzyme deficiency anemia (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class I variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class III variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia due to pentose phosphate pathway defect	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class II variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to hexokinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glutathione reductase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to glucose phosphate isomerase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to phosphoglycerate kinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase deficiency anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH)-methemoglobin reductase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA (hereditary nonspherocytic hemolytic anemia) due to pyruvate kinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class V variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class IV variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Propionic acidemia (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Acetyl-CoA: acyltransferase deficiency	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Citrullinemia (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Dihydropyrimidinase deficiency	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Carnitine acetyltransferase deficiency	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia due to enzyme deficiency	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Clinical manifestation of enzyme deficiency (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Drug-induced enzyme deficiency anemia (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	6
G-6-PD class I variant anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class III variant anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia due to pentose phosphate pathway defect	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
G-6-PD class II variant anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to phosphofructokinase deficiency (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Hereditary nonspherocytic hemolytic anemia due to reduced nicotinamide adenine dinucleotide diaphorase deficiency (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	6
HNSHA due to glucose phosphate isomerase deficiency	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Glucose-6-phosphate dehydrogenase deficiency anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia (HNSHA) due to reduced nicotinamide adenine dinucleotide (NADH)-methemoglobin reductase deficiency (disorder)	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary nonspherocytic hemolytic anemia due to decreased adenosine deaminase activity (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	5
G-6-PD class V variant anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
G-6-PD class IV variant anemia	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Glucose-6-phosphate dehydrogenase variant enzyme deficiency anemia (disorder)	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Gout secondary to enzyme defect	Associated with	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation	Due to	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Immunodeficiency with multicarboxylase deficiency	Associated with	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Disorder due to cytochrome p450 enzyme variant	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Disorder due to N-acetyltransferase enzyme variant (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Citrin deficiency (disorder)	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
UGT1A1*28 polymorphism	Is a	False	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Essential pentosuria (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperandrogenism due to non-classic 21-hydroxylase deficiency	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Circulating enzyme deficiency	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Aromatase excess syndrome (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Combined pancreatic lipase and colipase deficiency (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Lactase deficiency in diseases other than of the small intestine	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Anemia due to enzymopathy (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare inborn error of amino acid metabolism with characteristics of elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. The most common form of the condition is known as classical phenylketonuria and has severe symptoms. A mild form has also been described (mild PKU), and an even milder form known as mild hyperphenylalaninaemia (mild HPA or non-PKU HPA). A subset of patients with milder phenotypes has been found to be responsive to tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase (BH4-responsive HPA). The disease is caused by a wide range of variants in the PAH gene (12q22-q24.2) coding for phenylalanine hydroxylase. Transmission is autosomal recessive.	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Lysosomal storage disease (disorder)	Is a	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)
Gout secondary to enzyme defect	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hydroxymethylglutaric aciduria (disorder)	Due to	True	Enzymopathy	Inferred relationship	Existential restriction modifier (core metadata concept)	2

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Id	Description	Lang	Type	Status	Case?	Module
130340018	Enzymopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130343016	Enzyme disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819500019	Enzymopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130340018	Enzymopathy	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130340018	Enzymopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130343016	Enzyme disorder	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130343016	Enzyme disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819500019	Enzymopathy (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
819500019	Enzymopathy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
72011000077112	enzymopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
72011000077112	enzymopathie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module