237951008: 3-Methylglutaconic aciduria type 1 (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-Methylglutaconic aciduria type 1

\trouble métabolique\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 1

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

356634018 3-Methylglutaconic aciduria type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

356635017 3-Methylglutaconyl-CoA hydratase deficiency with 3-methylglutaconic acid en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

549451000241110 acidurie 3-méthylglutaconique type 1 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

626760015 3-Methylglutaconic aciduria type 1 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

940801000172116 acidurie 3-méthylglutaconique type 1 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

977611000172119 AMG (acidurie 3-méthylglutaconique) type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Methylglutaconic aciduria type 1	survenue (attribut)	congénital	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 1	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 1	est un(e) (attribut)	3-Methylglutaconic aciduria	true	Inferred relationship	Some
3-Methylglutaconic aciduria type 1	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets