OMOP Concept 4290404
Adenosylcobalamin synthesis defect
StandardConditionSNOMED69614003Disorder
Maps from
2
Descendants
2
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 Adenosylcobalamin synthesis defect via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 149428 | Adenosylcobalamin synthesis defect | Non-standard |
| Nebraska Lexicon | 69614003 | Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis | Non-standard |
Synonyms
Alternative names recorded for Adenosylcobalamin synthesis defect across source vocabularies.
- aciduria metilmalónica, tipo II
- Adenosylcobalamin synthesis defect (disorder)
- defecto de la síntesis de adenosilcobalamina
- defecto de la síntesis de adenosilcobalamina (trastorno)
- Methylmalonic acidaemia due to defects in adenosylcobalamin biosynthesis
- Methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis
- Methylmalonic aciduria, type II
- Vitamin B12-responsive methylmalonic acidaemia
- Vitamin B12-responsive methylmalonic acidemia
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(12)Roll up to these when you need a wider cohort.
- 1Methylmalonic acidemia
- 2Acidemia
- 2Disorder of branched-chain amino acid metabolism
- 2Disorder of propionate AND/OR methylmalonate metabolism
- 2Non-amino organic acidemia AND/OR aciduria
- 3Disorder of acid-base balance
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of organic acid metabolism
- 4Disorder of amino acid metabolism
- 4Metabolic disease
- 5Disease
- 6Clinical finding
Narrower concepts
(2)Included automatically when you query with descendants.
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