237941007: deficiëntie van gamma-aminoboterzuurtransaminase (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)\Gamma-aminobutyric acid transaminase deficiency

\Disorder of the gamma-glutamyl cycle\Gamma-aminobutyric acid transaminase deficiency

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

356619012 Gamma-aminobutyric acid transaminase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626746017 Gamma-aminobutyric acid transaminase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6892051000146118 gamma-aminoboterzuurtransaminasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7311741000146110 deficiëntie van GABA-transaminase nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7311751000146113 deficiëntie van gamma-aminoboterzuurtransaminase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8645321000146113 deficiëntie van gamma-aminoboterzuurtransaminase (aandoening) nl Fully specified name 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
Gamma-aminobutyric acid transaminase deficiency	Is a	Disorder of the gamma-glutamyl cycle	true	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Is a	Disorder of beta and omega amino acid metabolism	false	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Finding site	Body system structure	false	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Gamma-aminobutyric acid transaminase deficiency	Is a	Disorder of gamma-aminobutyric acid metabolism (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Source

Characteristic

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Group

This concept is not in any reference sets