OMOP Concept 4282756
Cytochrome-c oxidase deficiency
StandardConditionSNOMED67434000Disorder
Maps from
3
Descendants
7
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Source codes that map to this concept
3 source codes normalize to Cytochrome-c oxidase deficiency via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 119682 | Cytochrome-C oxidase deficiency | Non-standard |
| HPO | HP_0008347 | Decreased activity of mitochondrial complex IV | Non-standard |
| MeSH | D030401 | Cytochrome-c Oxidase Deficiency | Non-standard |
Synonyms
Alternative names recorded for Cytochrome-c oxidase deficiency across source vocabularies.
- Complex IV deficiency
- COX - Cytochrome C oxidase deficiency
- Cytochrome c oxidase deficiency
- Cytochrome-c oxidase deficiency (disorder)
- deficiencia de citocromo - c - oxidasa
- deficiencia de citocromo - c - oxidasa (trastorno)
- deficiencia de complejo mitocondrial IV
- deficiencia de COX - citocromo-c-oxidasa
- Mitochondrial complex IV deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(14)Roll up to these when you need a wider cohort.
- 1Deficiency in enzyme complexes of mitochondrial respiratory chain
- 1Mitochondrial cytopathy
- 2Disorder of mitochondrial respiratory chain complexes
- 2Enzymopathy
- 2Metabolic disease
- 3Disease
- 3Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 4Clinical finding
- 4Inborn error of metabolism
- 5Congenital disease
- 5Hereditary metabolic disease
- 6Fetal and/or neonatal disorder
- 6Hereditary disease
- 7Genetic disease
Narrower concepts
(7)Included automatically when you query with descendants.
- 1Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
- 1Fatal infantile cytochrome C oxidase deficiency
- 1Isolated cytochrome C oxidase deficiency
- 1Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- 1Mitochondrial respiratory chain complex IV assembly gene defect
- 1Mitochondrial respiratory chain complex IV structural subunit gene defect
- 1Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
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