124158003: Deficiency of glyceraldehyde-3-phosphate dehydrogenase (disorder)

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

5701601000172114 déficit en glyceraldehyde-3-phosphate déshydrogénase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4232271000172119 glyceraldehyde-3-fosfaatdehydrogenasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4232281000172116 GAPDH-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

4232291000172118 deficiëntie van GAPDH nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4232301000172117 deficiëntie van glyceraldehyde-3-fosfaatdehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian 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