124714006: deficiëntie van glutaminehydrolyserend guanosinemonofosfaatsynthase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of GMP synthase (glutamine-hydrolysing)

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

205036015 Deficiency of GMP synthetase (glutamine-hydrolysing) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

205037012 Deficiency of GMP synthase (glutamine-hydrolysing) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2974553016 Deficiency of guanosine monophosphate synthase (glutamine-hydrolysing) (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2974598010 Deficiency of guanosine monophosphate synthase (glutamine-hydrolysing) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9125791000146112 deficiëntie van glutaminehydrolyserend guanosinemonofosfaatsynthase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9125811000146113 deficiëntie van glutaminehydrolyserend guanosinemonofosfaatsynthase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9125821000146115 deficiëntie van glutaminehydrolyserend guanosinemonofosfaatsynthetase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11212051000146112 deficiëntie van glutaminehydrolyserend GMP-synthase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11212061000146110 tekort aan glutaminehydrolyserend GMPS nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

11212071000146116 deficiëntie van glutaminehydrolyserend GMP-synthetase nl Synonym (core metadata concept) Active Only initial character 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 GMP synthase (glutamine-hydrolysing)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of GMP synthase (glutamine-hydrolysing)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets