124507006: glutaminasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of glutaminase (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

204576013 Deficiency of glutaminase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728209011 Deficiency of glutaminase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6875271000146116 glutaminasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6875281000146119 glutaminasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7084201000146116 deficiëntie van glutaminase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7150921000146113 tekort aan glutaminase 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 glutaminase (disorder)	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of glutaminase (disorder)	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal epileptic encephalopathy due to glutaminase deficiency	Due to	True	Deficiency of glutaminase (disorder)	Inferred relationship	Some	2
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	Due to	True	Deficiency of glutaminase (disorder)	Inferred relationship	Some	5

This concept is not in any reference sets