297231002: 3-methylglutaconacidurie type 2 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\3-Methylglutaconic aciduria type 2

\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria\3-Methylglutaconic aciduria type 2

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

437713019 3-Methylglutaconic aciduria type 2 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

437714013 Barth syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

692540017 3-Methylglutaconic aciduria type 2 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

384051000146113 3-methylglutaconacidurie type 2 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

384061000146111 3-methylglutaconacidurie type 2 (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9219171000146119 syndroom van Barth nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9219161000146113 Erfelijke stofwisselingsaandoening die vrijwel alleen voorkomt bij jongens; een niet-functionerend enzym veroorzaakt verminderde weerstand tegen infecties, algemene spierzwakte (ook van de hartspier) en achterstand in de lichamelijke groei. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Methylglutaconic aciduria type 2	Is a	3-Methylglutaconic aciduria	true	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Finding site	Body system structure	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Occurrence	Congenital	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	X-linked hereditary disease	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	Hereditary metabolic disease	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

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This concept is not in any reference sets