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78548001: enzymopathie (aandoening)

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	Some
Enzymopathy	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Carnitine palmitoyltransferase deficiency	Is a	True	Enzymopathy	Inferred relationship	Some
Muscle AMP deaminase deficiency	Is a	True	Enzymopathy	Inferred relationship	Some
Other deficiencies of circulating enzymes	Is a	False	Enzymopathy	Inferred relationship	Some
Deficiency in enzyme complexes of mitochondrial respiratory chain	Is a	True	Enzymopathy	Inferred relationship	Some
Propionyl-CoA carboxylase deficiency	Is a	False	Enzymopathy	Inferred relationship	Some
Essential benign fructosuria	Is a	True	Enzymopathy	Inferred relationship	Some
Anemia due to enzyme deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to glutathione synthetase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Drug-induced enzyme deficiency anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD class I variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD class III variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Anemia due to pentose phosphate pathway defect	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD class II variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to hexokinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to NADH diaphorase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to glucose phosphate isomerase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to phosphoglycerate kinase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Glucose-6-phosphate dehydrogenase deficiency anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
erfelijke niet-sferocytaire hemolytische anemie door NADH-methemoglobinereductasedeficiëntie (aandoening)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder)	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD class V variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD class IV variant anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Associated etiologic finding	False	Enzymopathy	Inferred relationship	Some
Propionic acidemia	Is a	True	Enzymopathy	Inferred relationship	Some
Acetyl-CoA: acyltransferase deficiency	Is a	False	Enzymopathy	Inferred relationship	Some
Citrullinemia (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Dihydropyrimidinase deficiency	Is a	True	Enzymopathy	Inferred relationship	Some
Carnitine acetyltransferase deficiency	Is a	False	Enzymopathy	Inferred relationship	Some
Anemia due to enzyme deficiency	Due to	True	Enzymopathy	Inferred relationship	Some	5
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Due to	False	Enzymopathy	Inferred relationship	Some	5
Clinical manifestation of enzyme deficiency (disorder)	Due to	True	Enzymopathy	Inferred relationship	Some	1
Drug-induced enzyme deficiency anemia	Due to	True	Enzymopathy	Inferred relationship	Some	6
G-6-PD class I variant anemia	Due to	False	Enzymopathy	Inferred relationship	Some
G-6-PD class III variant anemia	Due to	False	Enzymopathy	Inferred relationship	Some
Anemia due to pentose phosphate pathway defect	Due to	True	Enzymopathy	Inferred relationship	Some	5
HNSHA due to pyrimidine-5'-nucleotidase deficiency	Due to	True	Enzymopathy	Inferred relationship	Some	5
G-6-PD class II variant anemia	Due to	False	Enzymopathy	Inferred relationship	Some
HNSHA due to phosphofructokinase deficiency	Due to	True	Enzymopathy	Inferred relationship	Some	5
HNSHA due to NADH diaphorase deficiency	Due to	True	Enzymopathy	Inferred relationship	Some	6
HNSHA due to glucose phosphate isomerase deficiency	Due to	True	Enzymopathy	Inferred relationship	Some	6
Glucose-6-phosphate dehydrogenase deficiency anemia	Due to	False	Enzymopathy	Inferred relationship	Some
erfelijke niet-sferocytaire hemolytische anemie door NADH-methemoglobinereductasedeficiëntie (aandoening)	Due to	False	Enzymopathy	Inferred relationship	Some
HNSHA due to decreased adenosine deaminase activity	Due to	True	Enzymopathy	Inferred relationship	Some	5
G-6-PD class V variant anemia	Due to	False	Enzymopathy	Inferred relationship	Some
G-6-PD class IV variant anemia	Due to	False	Enzymopathy	Inferred relationship	Some
G-6-PD variant enzyme deficiency anemia	Due to	False	Enzymopathy	Inferred relationship	Some
4-Hydroxyphenylpyruvate dioxygenase deficiency (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Gout secondary to enzyme defect	Associated with	True	Enzymopathy	Inferred relationship	Some	2
Neonatal jaundice due to deficiency of enzyme system for bilirubin conjugation (finding)	Due to	False	Enzymopathy	Inferred relationship	Some	1
immunodeficiëntie met holocarboxylasesynthetasedeficiëntie	Associated with	False	Enzymopathy	Inferred relationship	Some	1
Disorder due to cytochrome p450 enzyme variant	Is a	False	Enzymopathy	Inferred relationship	Some
Disorder due to N-acetyltransferase enzyme variant (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Citrin deficiency (disorder)	Is a	False	Enzymopathy	Inferred relationship	Some
UGT1A1*28 polymorphism	Is a	False	Enzymopathy	Inferred relationship	Some
Essential pentosuria (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Hyperandrogenism due to non-classic type of 21-hydroxylase deficiency (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Circulating enzyme deficiency	Is a	True	Enzymopathy	Inferred relationship	Some
Aromatase excess syndrome	Is a	True	Enzymopathy	Inferred relationship	Some
Combined pancreatic lipase and colipase deficiency	Is a	True	Enzymopathy	Inferred relationship	Some
Lactase deficiency in diseases other than of the small intestine	Is a	True	Enzymopathy	Inferred relationship	Some
Anemia due to enzymopathy (disorder)	Due to	True	Enzymopathy	Inferred relationship	Some	3
Phenylketonuria	Is a	True	Enzymopathy	Inferred relationship	Some
Lysosomal storage disease (disorder)	Is a	True	Enzymopathy	Inferred relationship	Some
Anemia due to deficiency of glycolytic enzymes (disorder)	Due to	True	Enzymopathy	Inferred relationship	Some	5

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Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
7056781000146118	enzymopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7056791000146116	enzymdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7056801000146117	enzymopathie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)