Cytochrome-C Oxidase Deficiency

Preferred Label : Cytochrome-C Oxidase Deficiency;

NCIt synonyms : Complex IV Deficiency; Mitochondrial Complex IV Deficiency; Cytochrome C Oxidase Deficiency;

NCIt definition : A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.;

Details

Origin ID

C98910;

UMLS CUI

C0268237;

Currated CISMeF NLP mapping
- Cytochrome-c oxidase deficiency (disorder) [SNOMED CT concept]
- Mitochondrial complex iv deficiency, nuclear type 1 [OMIM Phenotype]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- cytochrome-c oxidase deficiency [MeSH concept]
- cytochrome-c oxidase deficiency [SNOMED Notion]
- cytochrome-c oxidase deficiency disease [DO Concept]
- mitochondrial complex IV deficiency [Disease (Nov.)]
DO Cross reference
- cytochrome-c oxidase deficiency disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cytochrome-c oxidase deficiency (disorder) [SNOMED CT concept]
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
- Mitochondrial complex iv deficiency, nuclear type 1 [OMIM Phenotype]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
- cytochrome-c oxidase deficiency [SNOMED Notion]
- cytochrome-c oxidase deficiency [MeSH concept]
- cytochrome-c oxidase deficiency disease [DO Concept]
- mitochondrial complex IV deficiency [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients