OMOP Concept 439003
Disorder of branched-chain amino acid metabolism
StandardConditionSNOMED116020001Disorder
Maps from
33
Descendants
65
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
33 source codes normalize to Disorder of branched-chain amino acid metabolism via the OMOP "Maps to" relationship.
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
(65)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
- 1Deficiency of hydroxymethylglutaryl-CoA lyase
- 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
- 23-methylglutaconic aciduria type 9
- 2Adenosylcobalamin and methylcobalamin synthesis defect
- 2Adenosylcobalamin synthesis defect
- 2Classical maple syrup urine disease
- 2Combined malonic and methylmalonic aciduria
- 2Cytosolic acetoacetyl-CoA thiolase deficiency
- 2Deficiency of isoleucine-tRNA ligase
- 2Deficiency of valine-tRNA ligase
- 2Dihydrolipoamide dehydrogenase deficiency
- 2Fatal infantile lactic acidosis with methylmalonic aciduria
- 2Heterozygote for methylmalonic acidemia
- 2Hypervalinemia
- 2Intermediate maple syrup urine disease
- 2Intermittent maple syrup urine disease
- 2Isobutyryl-CoA dehydrogenase deficiency disease
- 2Isobutyrylglycinuria
- 2Isoleucinosis
- 2Maple syrup urine disease, multiple dehydrogenase form
- 2Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
- 2Methylmalonic aciduria due to transcobalamin receptor defect
- 2Mild maple syrup urine disease
- 2Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - non-potassium stimulated
- 2Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated
- 2Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
Get this concept via the API
Resolve Disorder of branched-chain amino acid metabolism - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/439003?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card