OMOP Concept 4175583
3-Methylglutaconic aciduria type 2
StandardConditionSNOMED297231002Disorder
Maps from
4
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
4 source codes normalize to 3-Methylglutaconic aciduria type 2 via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 150961 | 3-methylglutaconic aciduria type 2 | Non-standard |
| ICD10CM | E78.71 | Barth syndrome | Non-standard |
| MeSH | D056889 | Barth Syndrome | Non-standard |
| Nebraska Lexicon | 297231002 | 3-Methylglutaconic aciduria type 2 | Non-standard |
Synonyms
Alternative names recorded for 3-Methylglutaconic aciduria type 2 across source vocabularies.
- 3-Methylglutaconic aciduria type 2 (disorder)
- aciduria 3-metilglutacónica aciduria tipo 2
- aciduria 3-metilglutacónica aciduria tipo 2 (trastorno)
- Barth syndrome
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.
- 13-Methylglutaconic aciduria
- 1X-linked recessive hereditary disease
- 2Disorder of branched-chain amino acid metabolism
- 2X-linked hereditary disease
- 3Disorder of amino acid and organic acid metabolism
- 3Sex-linked hereditary disorder
- 4Disorder of amino acid metabolism
- 4Hereditary disease
- 5Disorder of organic acid metabolism
- 5Genetic disease
- 6Disease
- 6Metabolic disease
- 7Clinical finding
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