OMOP Concept 4214002
Inherited methylmalonic acidemia AND homocystinuria
StandardConditionSNOMED80887004Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to Inherited methylmalonic acidemia AND homocystinuria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 121799 | Combined Methylmalonic Acidaemia and Homocystinuria due to Defects in Adenosylcobalamin and Methylcobalamin Synthesis | Non-standard |
| CIEL | 137134 | Inherited methylmalonic acidemia and homocystinuria | Non-standard |
Synonyms
Alternative names recorded for Inherited methylmalonic acidemia AND homocystinuria across source vocabularies.
- acidemia metilmalónica y homocistinuria hereditarias
- acidemia metilmalónica y homocistinuria hereditarias (trastorno)
- CblF - Cobalamin locus F variant
- CblF methylmalonic acidaemia and homocystinuria
- CblF methylmalonic acidemia and homocystinuria
- Cobalamin locus F variant
- Inherited methylmalonic acidaemia AND homocystinuria
- Inherited methylmalonic acidemia AND homocystinuria (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(18)Roll up to these when you need a wider cohort.
- 1Adenosylcobalamin and methylcobalamin synthesis defect
- 1Hereditary metabolic disease
- 1Homocystinuria
- 2Disorder of sulfur-bearing amino acid metabolism
- 2Hereditary disease
- 2Metabolic disease
- 2Methylmalonic acidemia
- 3Acidemia
- 3Disease
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of branched-chain amino acid metabolism
- 3Disorder of propionate AND/OR methylmalonate metabolism
- 3Genetic disease
- 3Non-amino organic acidemia AND/OR aciduria
- 4Clinical finding
- 4Disorder of acid-base balance
- 4Disorder of amino acid metabolism
- 4Disorder of organic acid metabolism
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