mitochondrial complex I deficiency

Preferred Label : mitochondrial complex I deficiency;

CISMeF synonym : NADH:Q(1) oxidoreductase deficiency;

MeSH synonym : Nadh-Coenzyme Q Reductase Deficiency; NADH coenzyme q reductase deficiency; NADH:Q(1) Oxidoreductase deficiency; Mitochondrial NADH dehydrogenase component of complex I, deficiency of;

MeSH hyponym : NADH coenzyme q reductase deficiency; Nadh-Coenzyme Q Reductase Deficiency; Mitochondrial NADH dehydrogenase component of complex I, deficiency of;

Details

Origin ID

C537475;

UMLS CUI

C1838979;

Currated CISMeF NLP mapping
- Isolated complex I deficiency [ORDO Disease]
- Mitochondrial complex I deficiency, nuclear type 1 [OMIM Phenotype]
- Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) [SNOMED CT concept]
- complex I deficiency [Disease (Nov.)]
- mitochondrial complex I deficiency [DO Concept]
DO Cross reference
- mitochondrial complex I deficiency [DO Concept]
Has phenotype(s) (HPO)
- Epilepsy [HPO term]
- Feeding difficulties [HPO term]
- Psychomotor regression [HPO term]
MeSH term(s) associated for indexing
- electron transport complex I [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
Record concept(s)
- Mitochondrial complex I deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial complex I deficiency, nuclear type 1 [OMIM Phenotype]
- Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder) [SNOMED CT concept]
- mitochondrial complex I deficiency [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients