237950009: 3-Methylglutaconic aciduria (disorder)

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

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

4143521000005112 3-methylglutaconaciduri da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Some
3-Methylglutaconic aciduria	Finding site	Body system structure	false	Inferred relationship	Some
3-Methylglutaconic aciduria	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
3-Methylglutaconic aciduria type 1	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
3-Methylglutaconic aciduria type 2	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
3-Methylglutaconic aciduria type 3	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
3-Methylglutaconic aciduria type 4	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
Unclassified 3-methylglutaconic aciduria	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
3-methylglutaconic aciduria type 5 (disorder)	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
A rare organic aciduria characterized by increased urinary excretion of 3-methylglutaconic acid, variably associated with neutropenia (sometimes causing recurrent severe infections and potentially resulting in leukemia) 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	Some
A rare organic aciduria characterized by neonatal onset of hypotonia, recurrent apneic episodes, lack of psychomotor development, feeding difficulties, extrapyramidal signs, and seizures. Other reported features include microcephaly, sensorineural deafness, bradycardia, and neutropenia. Laboratory studies show increased serum lactate and urinary excretion of 3-methylglutaconic acid. Brain imaging may reveal progressive cerebral atrophy. The disease is lethal in infancy.	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some
A rare organic aciduria characterized by early onset of global developmental delay with severe intellectual disability, seizures, and 3-methylglutaconic aciduria. Additional features are hypotonia, hyperactivity and aggressive behavior, optic atrophy, or spasticity. Brain imaging may show generalized cerebral atrophy and white matter abnormalities.	Is a	True	3-Methylglutaconic aciduria	Inferred relationship	Some

This concept is not in any reference sets