237950009: 3-Methylglutaconic aciduria (disorder)

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

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

356633012 3-Methylglutaconic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626759013 3-Methylglutaconic aciduria (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

356633012 3-Methylglutaconic aciduria en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

626759013 3-Methylglutaconic aciduria (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

626759013 3-Methylglutaconic aciduria (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3413281001000118 3-Methylglutaconazidurie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

975731000172112 acidurie 3-méthylglutaconique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

975731000172112 acidurie 3-méthylglutaconique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3413281001000118 3-Methylglutaconazidurie 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	Is a	Disorder of branched-chain amino acid metabolism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria	Finding site	Body system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-Methylglutaconic aciduria type 1	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 2 (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 3 (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-Methylglutaconic aciduria type 4 (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
Unclassified 3-methylglutaconic aciduria (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 5 (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare organic aciduria characterised by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukaemia) and progressive neurologic manifestations, such as global developmental delay, intellectual disability, hypotonia, movement disorder, and seizures. Microcephaly, cataract, facial dysmorphism, growth retardation, endocrine abnormalities, and cardiomyopathy have also been reported. Brain imaging may show cerebral or cerebellar atrophy, or abnormalities of the basal ganglia.	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 8	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 9	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets