FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

237950009: 3-Methylglutaconic aciduria (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
356633012 3-Methylglutaconic aciduria en Synonym (core metadata concept) Active Only initial character case insensitive (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
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

11 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
3-Methylglutaconic aciduria (disorder) Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Some
3-Methylglutaconic aciduria (disorder) Finding site Body system structure false Inferred relationship Some
3-Methylglutaconic aciduria (disorder) 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 (disorder) Inferred relationship Some
3-Methylglutaconic aciduria type 2 Is a True 3-Methylglutaconic aciduria (disorder) Inferred relationship Some
3-Methylglutaconic aciduria type 3 Is a True 3-Methylglutaconic aciduria (disorder) Inferred relationship Some
3-Methylglutaconic aciduria type 4 Is a True 3-Methylglutaconic aciduria (disorder) Inferred relationship Some
Unclassified 3-methylglutaconic aciduria Is a True 3-Methylglutaconic aciduria (disorder) Inferred relationship Some
3-methylglutaconic aciduria type 5 (disorder) Is a True 3-Methylglutaconic aciduria (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Inferred relationship Some

This concept is not in any reference sets

Back to Start