16909721000119103: stoornis van metabolisme van gamma-aminoboterzuur (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 beta and omega amino acid metabolism\Disorder of gamma-aminobutyric acid metabolism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Sep 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5258497017 Disorder of gamma-aminobutyric acid metabolism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5258498010 Disorder of gamma aminobutyric acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5258595011 Disorder of gamma-aminobutyric acid metabolism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5258976012 Disorder of GABA (gamma aminobutyric acid) metabolism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

14649341000146115 stoornis van metabolisme van gamma-aminoboterzuur (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14649351000146117 stoornis van GABA-stofwisseling nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14649361000146119 stoornis van metabolisme van gamma-aminoboterzuur 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 gamma-aminobutyric acid metabolism (disorder)	Is a	Disorder of beta and omega amino acid metabolism	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Homocarnosinase deficiency	Is a	True	Disorder of gamma-aminobutyric acid metabolism (disorder)	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Is a	True	Disorder of gamma-aminobutyric acid metabolism (disorder)	Inferred relationship	Some
Pyridoxine-dependent epilepsy (disorder)	Is a	True	Disorder of gamma-aminobutyric acid metabolism (disorder)	Inferred relationship	Some

Reference Sets