OMOP Concept 42538941
2-methyl-3-hydroxybutyric aciduria
StandardConditionSNOMED791000124107Disorder
Maps from
2
Descendants
0
Valid from
1 Aug 2011
Valid to
31 Dec 2099
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Source codes that map to this concept
2 source codes normalize to 2-methyl-3-hydroxybutyric aciduria via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C564560 | Mental Retardation, X-Linked, Syndromic 10 | Non-standard |
| Nebraska Lexicon | 791000124107 | 2-methyl-3-hydroxybutyric aciduria | Non-standard |
Synonyms
Alternative names recorded for 2-methyl-3-hydroxybutyric aciduria across source vocabularies.
- 2-methyl-3-hydroxybutyric aciduria (disorder)
- aciduria 2-metil-3-hidroxibutírica
- aciduria 2-metil-3-hidroxibutírica (trastorno)
- HSD10 disease
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(25)Roll up to these when you need a wider cohort.
- 1Chronic metabolic disorder
- 1Chronic nervous system disorder
- 1Deficiency of dehydrogenase
- 1Disorder of isoleucine metabolism
- 1Disorder of the central nervous system
- 1Hereditary disorder of nervous system
- 1X-linked dominant hereditary disease
- 2Central nervous system finding
- 2Chronic disease
- 2Disorder of branched-chain amino acid metabolism
- 2Disorder of nervous system
- 2Hereditary disorder by system
- 2Metabolic disease
- 2Specific enzyme deficiency
- 2X-linked hereditary disease
- 3Clinical finding
- 3Disease
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of body system
- 3Enzymopathy
- 3Hereditary disease
- 3Sex-linked hereditary disorder
- 4Disorder of amino acid metabolism
- 4Genetic disease
- 5Disorder of organic acid metabolism
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