OMOP Concept 36716469
Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency
StandardConditionSNOMED722488009Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 722488009 | Valine metabolic defect | Non-standard |
Synonyms
Alternative names recorded for Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency across source vocabularies.
- aciduria metacrílica
- defecto metabólico de la valina
- deficiencia de 3-hidroxiisobutiril coenzima A hidrolasa asociada al gen HIBCH
- HIBCH-gene related deficiency of 3-hydroxyisobutyryl coenzyme A hydrolase
- Methacrylic aciduria
- neurodegeneración debida a deficiencia de 3-hidroxiisobutiril-CoA hidrolasa
- neurodegeneración debida a deficiencia de 3-hidroxiisobutiril coenzima A hidrolasa
- neurodegeneración debida a deficiencia de 3-hidroxiisobutiril coenzima A hidrolasa (trastorno)
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency (disorder)
- Valine metabolic defect
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(27)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Central nervous system complication
- 1Degenerative brain disorder
- 1Disorder of valine metabolism
- 1Hereditary degenerative disease of central nervous system
- 2Autosomal hereditary disorder
- 2Degenerative disease of the central nervous system
- 2Disorder of brain
- 2Disorder of branched-chain amino acid metabolism
- 2Disorder of the central nervous system
- 2Hereditary disorder of nervous system
- 3Central nervous system finding
- 3Degenerative disorder
- 3Disorder of amino acid and organic acid metabolism
- 3Disorder of head
- 3Disorder of nervous system
- 3Finding of brain
- 3Hereditary disease
- 3Hereditary disorder by system
- 4Clinical finding
- 4Disease
- 4Disorder of amino acid metabolism
- 4Disorder of body system
- 4Genetic disease
- 4Head finding
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