297233004: 3-Methylglutaconic aciduria type 4 (disorder)

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

\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\acidurie 3-méthylglutaconique type 4

\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\acidurie 3-méthylglutaconique type 4

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

1011731000172110 acidurie 3-méthylglutaconique type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

437717018 3-Methylglutaconic aciduria type 4 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

600491000241113 acidurie 3-méthylglutaconique type 4 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

692543015 3-Methylglutaconic aciduria type 4 (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

967171000172110 AMG4 - acidurie 3-méthylglutaconique type 4 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
acidurie 3-méthylglutaconique type 4	est un(e) (attribut)	3-Methylglutaconic aciduria	true	Inferred relationship	Some
acidurie 3-méthylglutaconique type 4	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
acidurie 3-méthylglutaconique type 4	survenue (attribut)	congénital	false	Inferred relationship	Some
acidurie 3-méthylglutaconique type 4	localisation d'une constatation (attribut)	structure d'un système corporel	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	est un(e) (attribut)	True	acidurie 3-méthylglutaconique type 4	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set