Mitochondrial Complex IV Deficiency, Nuclear Type 1

Preferred Label : Mitochondrial Complex IV Deficiency, Nuclear Type 1;

NCIt synonyms : MC4DN1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes.;

NCI Metathesaurus CUI : CL1642934;

Details

Origin ID

C176895;

UMLS CUI

C5435656;

Currated CISMeF NLP mapping
- Mitochondrial complex iv deficiency, nuclear type 1 [OMIM Phenotype]
- mitochondrial complex IV deficiency [Disease (Nov.)]
See also inter- (CISMeF)
- cytochrome-c oxidase deficiency [SNOMED Notion]
- cytochrome-c oxidase deficiency [MeSH concept]
- cytochrome-c oxidase deficiency [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial complex iv deficiency, nuclear type 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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