NADH Dehydrogenase Deficiency

Preferred Label : NADH Dehydrogenase Deficiency;

NCIt related terms : NADH-CoQ Reductase (Complex I) Deficiency; NADH Dehydrogenase (Ubiquinone) Deficiency;

NCIt definition : A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.;

Details

Origin ID

C98994;

UMLS CUI

C3274500;

Automatic exact mappings (from CISMeF team)
- Deficiency of reduced nicotinamide adenine dinucleotide dehydrogenase (ubiquinon) (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease 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) :

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