124614004: Deficiency of 4-hydroxy-2-oxoglutarate aldolase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of 4-hydroxy-2-oxoglutarate aldolase

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

204762014 Deficiency of 2-oxo-4-hydroxyglutarate aldolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204763016 Deficiency of 4-hydroxy-2-oxoglutarate aldolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728331017 Deficiency of 4-hydroxy-2-oxoglutarate aldolase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4776121000241110 déficit en 4-hydroxy-2-oxoglutarate aldolase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of 4-hydroxy-2-oxoglutarate aldolase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of 4-hydroxy-2-oxoglutarate aldolase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set