cytochrome-c oxidase deficiency

Preferred Label : cytochrome-c oxidase deficiency;

MeSH definition : A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001);

MeSH synonym : cytochrome-c oxidase deficiencies; cytochrome oxidase deficiency; oxidase deficiency, cytochrome-c; oxidase deficiency, cytochrome; deficiency, cytochrome c oxidase; deficiency, cytochrome oxidase; oxidase deficiencies, cytochrome; deficiencies, cytochrome-c oxidase; oxidase deficiencies, cytochrome-c; cytochrome oxidase deficiencies; deficiencies, cytochrome oxidase; deficiency, cytochrome-c oxidase; cytochrome C oxidase deficiency; mitochondrial complex iv deficiency; cox deficiency; complex IV deficiency; complex IV deficiencies; deficiencies, complex IV; deficiency, complex IV; cox deficiencies; deficiencies, cox; deficiency, cox;

Wikipedia link : https://en.wikipedia.org/wiki/Cytochrome-c oxidase deficiency;

Details

Origin ID

D030401;

UMLS CUI

C0268237;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Isolated mitochondrial respiratory chain complex IV deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cytochrome-C Oxidase Deficiency [NCIt concept]
- Cytochrome-c oxidase deficiency (disorder) [SNOMED CT 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]
MeSH Descriptor(s) used for indexing
- electron transport complex IV [MeSH Descriptor]
ORDO relation(s)
- Isolated cytochrome C oxidase deficiency [ORDO Disease]
Record concept(s)
- cytochrome-c oxidase deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency [MeSH Supplementary Concept]
- leigh syndrome , french canadian type [MeSH Supplementary Concept]
See also
- electron transport complex IV [MeSH Descriptor]
- leigh disease [MeSH Descriptor]
See also inter- (CISMeF)
- Mitochondrial Complex IV Deficiency, Nuclear Type 1 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cytochrome-C Oxidase Deficiency [NCIt 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 [SNOMED Notion]
- cytochrome-c oxidase deficiency disease [DO Concept]
- mitochondrial complex IV deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Mitochondrial complex iv deficiency, nuclear type 1 [OMIM Phenotype]

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