124618001: deficiëntie van fosfopyrovaathydratase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of enolase

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

Descriptions:

Id Description Lang Type Status Case? Module

204774013 Deficiency of phosphopyruvate hydratase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204775014 Deficiency of 2-phosphoglycerate dehydratase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204776010 Deficiency of enolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728335014 Deficiency of enolase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6851031000146114 enolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8197451000146114 deficiëntie van enolase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11273151000146114 deficiëntie van fosfopyrovaathydratase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11273161000146112 deficiëntie van 2-fosfoglyceraatdehydratase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11273171000146118 deficiëntie van fosfopyrovaathydratase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of enolase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of enolase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to red cell enolase deficiency (disorder)	Due to	True	Deficiency of enolase	Inferred relationship	Some	1
Glycogen storage disease due to muscle beta-enolase deficiency	Due to	True	Deficiency of enolase	Inferred relationship	Some	2
glycogeenstapelingsziekte door bèta-enolasedeficiëntie in spier	Due to	False	Deficiency of enolase	Inferred relationship	Some	2

This concept is not in any reference sets