OMOP Concept 4053217
Deficiency of methylmalonyl-CoA mutase
StandardConditionSNOMED124680001Disorder
Maps from
3
Descendants
2
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Deficiency of methylmalonyl-CoA mutase via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 142702 | Deficiency of methylmalonyl-CoA mutase | Non-standard |
| MeSH | C537573 | Methylmalonyl-Coenzyme A mutase deficiency | Non-standard |
| Nebraska Lexicon | 124680001 | Deficiency of methylmalonyl-coenzyme A mutase | Non-standard |
Synonyms
Alternative names recorded for Deficiency of methylmalonyl-CoA mutase across source vocabularies.
- deficiencia de metilmalonilo - CoA mutasa
- deficiencia de metilmalonilo - CoA mutasa (trastorno)
- Deficiency of methylmalonyl-coenzyme A mutase
- Deficiency of methylmalonyl-coenzyme A mutase (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Disorder of propionate AND/OR methylmalonate metabolism
- 1Inborn error of metabolism
- 1Specific enzyme deficiency
- 2Autosomal hereditary disorder
- 2Congenital disease
- 2Disorder of organic acid metabolism
- 2Enzymopathy
- 2Hereditary metabolic disease
- 3Disorder of fetus and/or newborn
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Genetic disease
- 5Clinical finding
Narrower concepts
(2)Included automatically when you query with descendants.
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