16909721000119103: Disorder of gamma-aminobutyric acid metabolism (disorder)

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

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

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	Existential restriction modifier (core metadata concept)

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

This concept is not in any reference sets