OMOP Concept 4254080
Cobalamin C disease
StandardConditionSNOMED74653006Disorder
Maps from
3
Descendants
0
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 Cobalamin C disease via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 144668 | Cobalamin C Disease | Non-standard |
| MeSH | C537359 | Methylmalonic acidemia with homocystinuria | Non-standard |
| Nebraska Lexicon | 74653006 | CblC methylmalonic acidaemia and homocystinuria | Non-standard |
Synonyms
Alternative names recorded for Cobalamin C disease across source vocabularies.
- CblC - Cobalamin locus C
- CblC methylmalonic acidaemia and homocystinuria
- CblC methylmalonic acidemia and homocystinuria
- Cobalamin C disease (disorder)
- Cobalamin locus C variant
- enfermedad de cobalamina C
- enfermedad de cobalamina C (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(13)Roll up to these when you need a wider cohort.
- 1Adenosylcobalamin and methylcobalamin synthesis defect
- 2Methylmalonic acidemia
- 3Acidemia
- 3Disorder of branched-chain amino acid metabolism
- 3Disorder of propionate AND/OR methylmalonate metabolism
- 3Non-amino organic acidemia AND/OR aciduria
- 4Disorder of acid-base balance
- 4Disorder of amino acid and organic acid metabolism
- 4Disorder of organic acid metabolism
- 5Disorder of amino acid metabolism
- 5Metabolic disease
- 6Disease
- 7Clinical finding
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