Congenital neurological disorder
Deficiency in enzyme complexes of mitochondrial respiratory chain
Deficiency of NADH dehydrogenase (ubiquinon)
Hereditary disorder of musculoskeletal system
Hereditary myopathy
Inherited metabolic disorder of nervous system
Mitochondrial myopathy
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Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency (disorder)
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Mitochondrial complex I deficiency
NADH - Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
Complex I deficiency
ademhalingsketen-complex-1-deficiëntie
complex-I-deficiëntie
Erfelijke aangeboren aandoening die veelal gepaard gaat met melkzuuracidose (verzuring) kort na de geboorte, waardoor er sprake kan zijn van spierzwakte, een vergroot waterhoofd en/of hartafwijkingen.
Id237988006
StatusPrimitive
OccurrenceCongenital
Finding siteStructure of nervous system
Finding siteSkeletal muscle structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8
CorrelationSNOMED CT source code to target map code correlation not specified
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Mitochondrial respiratory chain complex I assembly gene defect
Mitochondrial respiratory chain complex I structural subunit gene defect