124158003: deficiëntie van glyceraldehyde-3-fosfaatdehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glyceraldehyde-3-phosphate dehydrogenase

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

203605013 Deficiency of triosephosphate dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
203606014 Deficiency of glyceraldehyde-3-phosphate dehydrogenase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
727650012 Deficiency of glyceraldehyde-3-phosphate dehydrogenase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6851541000146112 glyceraldehyde-3-fosfaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6851561000146113 deficiëntie van glyceraldehyde-3-fosfaatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9443241000146110 deficiëntie van GAPDH nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
9807041000146114 deficiëntie van glyceraldehyde-3-fosfaatdehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11274391000146118 GAPDH-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (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 glyceraldehyde-3-phosphate dehydrogenase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glyceraldehyde-3-phosphate dehydrogenase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency	Due to	True	Deficiency of glyceraldehyde-3-phosphate dehydrogenase	Inferred relationship	Some	1

Reference Sets