124704002: glutaminesynthetasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glutamate-ammonia ligase (disorder)

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

205006012 Deficiency of glutamine synthetase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

205007015 Deficiency of glutamate-ammonia ligase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728435010 Deficiency of glutamate-ammonia ligase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7150911000146115 tekort aan glutamaatammonialigase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8337851000146111 deficiëntie van glutamaatammonialigase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8337861000146114 glutaminesynthetasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8337871000146115 glutaminesynthetasedeficiëntie nl Synonym (core metadata concept) 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 glutamate-ammonia ligase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glutamate-ammonia ligase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets