297233004: 3-Methylglutaconic aciduria type 4 (disorder)

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

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\3-Methylglutaconic aciduria type 4 (disorder)

\Metabolic disease\Disorder of organic acid metabolism (disorder)\Disorder of amino acid metabolism (disorder)\Disorder of amino acid and organic acid metabolism\Disorder of branched-chain amino acid metabolism\3-Methylglutaconic aciduria\3-Methylglutaconic aciduria type 4 (disorder)

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

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

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

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

692543015 3-Methylglutaconic aciduria type 4 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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

3382541001000112 3-Methylglutaconazidurie Typ 4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967171000172110 AMG4 - acidurie 3-méthylglutaconique type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1011731000172110 acidurie 3-méthylglutaconique type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

967171000172110 AMG4 - acidurie 3-méthylglutaconique type 4 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1011731000172110 acidurie 3-méthylglutaconique type 4 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3382541001000112 3-Methylglutaconazidurie Typ 4 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
3-Methylglutaconic aciduria type 4 (disorder)	Is a	3-Methylglutaconic aciduria	true	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 4 (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 4 (disorder)	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 4 (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)	Is a	True	3-Methylglutaconic aciduria type 4 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets