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

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

437717018 3-Methylglutaconic aciduria type 4 en Synonym (core metadata concept) Active Only initial character case insensitive (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

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	Is a	3-Methylglutaconic aciduria (disorder)	true	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Occurrence	Congenital	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Finding site	Body system structure	false	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
MEGDEL syndrome is a rare, genetic, neurometabolic disorder characterised by neonatal hypoglycaemia, features of sepsis that are not linked to infection, development of feeding problems, failure to thrive, transient liver dysfunction, and truncal hypotonia followed by dystonia and spasticity which results in psychomotor development arrest and/or regression. Progressive sensorineural deafness, intellectual disability and absent speech are also associated. Laboratory tests demonstrate 3-methylglutaconic aciduria and temporary elevated serum lactate and transaminases.	Is a	True	3-Methylglutaconic aciduria type 4	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set