OMOP Concept 439003
Disorder of branched-chain amino acid metabolism
StandardConditionSNOMED116020001Disorder
Maps from
32
Descendants
61
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
32 source codes normalize to Disorder of branched-chain amino acid metabolism via the OMOP "Maps to" relationship.
Showing 25 of 32 source codes. Retrieve the full set via the API.
Synonyms
Alternative names recorded for Disorder of branched-chain amino acid metabolism across source vocabularies.
- Branched chain amino acid metabolism disorder
- Disorder of branched chain amino acid metabolism
- Disorder of branched-chain amino acid metabolism (disorder)
- trastorno del metabolismo de aminoácidos de cadena ramificada
- trastorno del metabolismo de aminoácidos de cadena ramificada (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(6)Roll up to these when you need a wider cohort.
Narrower concepts
(61)Included automatically when you query with descendants.
- 13-Methylglutaconic aciduria
- 1Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- 1Deficiency of acetyl-CoA acetyltransferase
- 1Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
- 1Disorder of isoleucine metabolism
- 1Disorder of valine metabolism
- 1Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- 1Hyperleucine-isoleucinemia
- 1Hyperleucinemia
- 1Intermittent branched-chain ketonuria
- 1Isovaleryl-CoA dehydrogenase deficiency
- 1Maple syrup urine disease
- 1Methylcrotonyl-CoA carboxylase deficiency
- 1Methylmalonic acidemia
- 1Propionic acidemia
- 22-methyl-3-hydroxybutyric aciduria
- 22-methylbutyryl-coenzyme A dehydrogenase deficiency disease
- 23-Hydroxyisobutyric aciduria
- 23-Methylglutaconic aciduria type 1
- 23-Methylglutaconic aciduria type 2
- 23-Methylglutaconic aciduria type 3
- 23-Methylglutaconic aciduria type 4
- 23-methylglutaconic aciduria type 5
- 23-methylglutaconic aciduria type 7
- 23-methylglutaconic aciduria type 8
Showing 25 of 61. Retrieve the full set via the API.
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