OMOP Concept 4173459
Methylmalonic acidemia
StandardConditionSNOMED42393006Disorder
Maps from
7
Descendants
13
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
7 source codes normalize to Methylmalonic acidemia via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 134218 | Methylmalonic acidaemia | Non-standard |
| HPO | HP_0002912 | Methylmalonic acidemia | Non-standard |
| HPO | HP_0012120 | Methylmalonic aciduria | Non-standard |
| ICD10CM | E71.120 | Methylmalonic acidemia | Non-standard |
| MeSH | C537358 | Methylmalonic acidemia | Non-standard |
| Nebraska Lexicon | 42393006 | Methylmalonic acidaemia | Non-standard |
| Read | C307y11 | Methylmalonic acidaemia | Non-standard |
Synonyms
Alternative names recorded for Methylmalonic acidemia across source vocabularies.
- acidemia metilmalónica
- acidemia metilmalónica (trastorno)
- Methylmalonic acidaemia
- Methylmalonic acidemia (disorder)
- MMA - Methylmalonic aciduria
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(11)Roll up to these when you need a wider cohort.
- 1Acidemia
- 1Disorder of branched-chain amino acid metabolism
- 1Disorder of propionate AND/OR methylmalonate metabolism
- 1Non-amino organic acidemia AND/OR aciduria
- 2Disorder of acid-base balance
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of organic acid metabolism
- 3Disorder of amino acid metabolism
- 3Metabolic disease
- 4Disease
- 5Clinical finding
Narrower concepts
(13)Included automatically when you query with descendants.
- 1Adenosylcobalamin and methylcobalamin synthesis defect
- 1Adenosylcobalamin synthesis defect
- 1Combined malonic and methylmalonic aciduria
- 1Fatal infantile lactic acidosis with methylmalonic aciduria
- 1Heterozygote for methylmalonic acidemia
- 1Methylmalonic acidemia due to methylmalonyl-coenzyme A epimerase deficiency
- 1Methylmalonic aciduria due to transcobalamin receptor defect
- 1Mitochondrial DNA depletion syndrome encephalomyopathic form with methylmalonic aciduria
- 2Cobalamin A disease
- 2Cobalamin B disease
- 2Cobalamin C disease
- 2Cobalamin D disease
- 2Inherited methylmalonic acidemia AND homocystinuria
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