190724004: stoornis van metabolisme van glutamine (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of glutamine metabolism

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

293150010 Disturbance of glutamine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2818112011 Disorder of glutamine metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2818117017 Disorder of glutamine metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6904031000146114 stofwisselingsstoornis van glutamine nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7987491000146111 stoornis van metabolisme van glutamine (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8034611000146117 stoornis van metabolisme van glutamine 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
Disorder of glutamine metabolism	Is a	Disorder of amino acid and organic acid metabolism	true	Inferred relationship	Some
Disorder of glutamine metabolism	Finding site	Body system structure	false	Inferred relationship	Some
Disorder of glutamine metabolism	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neonatal epileptic encephalopathy due to glutaminase deficiency	Is a	True	Disorder of glutamine metabolism	Inferred relationship	Some
Spastic ataxia, dysarthria due to glutaminase deficiency (disorder)	Is a	True	Disorder of glutamine metabolism	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set