OMOP Concept 36716263
Severe X-linked mitochondrial encephalomyopathy
StandardConditionSNOMED722212004Disorder
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 Severe X-linked mitochondrial encephalomyopathy via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 722212004 | Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 | Non-standard |
Synonyms
Alternative names recorded for Severe X-linked mitochondrial encephalomyopathy across source vocabularies.
- encefalomiopatía mitocondrial severa ligada al cromosoma X
- encefalomiopatía mitocondrial severa ligada al cromosoma X (trastorno)
- Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6
- Mitochondrial encephalomyopathy due to COXPD6 deficiency
- Severe X-linked mitochondrial encephalomyopathy (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(41)Roll up to these when you need a wider cohort.
- 1Degenerative brain disorder
- 1Disorder of mitochondrial respiratory chain complexes
- 1Hereditary degenerative disease of central nervous system
- 1Hereditary disorder of musculoskeletal system
- 1Inherited metabolic disorder of nervous system
- 1Mitochondrial encephalomyopathy
- 1X-linked recessive hereditary disease
- 2Degenerative disease of the central nervous system
- 2Disorder of brain
- 2Disorder of musculoskeletal system
- 2Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Inborn error of metabolism
- 2Mitochondrial myopathy
- 2X-linked hereditary disease
- 3Congenital disease
- 3Degenerative disorder
- 3Disorder of body system
- 3Disorder of head
- 3Disorder of nervous system
- 3Disorder of the central nervous system
- 3Finding of brain
- 3Hereditary disease
- 3Hereditary metabolic disease
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