OMOP Concept 37169824
Mitochondrial respiratory chain complex I assembly gene defect
StandardConditionSNOMED1196948002Disorder
Maps from
0
Descendants
0
Valid from
28 Feb 2022
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Mitochondrial respiratory chain complex I assembly gene defect across source vocabularies.
- defecto de gen de ensamblaje de complejo I de cadena respiratoria mitocondrial
- defecto de gen de ensamblaje de complejo I de cadena respiratoria mitocondrial (trastorno)
- Mitochondrial respiratory chain complex I assembly gene defect (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(34)Roll up to these when you need a wider cohort.
- 1Disorder of the central nervous system
- 1Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
- 2Central nervous system finding
- 2Deficiency in enzyme complexes of mitochondrial respiratory chain
- 2Deficiency of NADH dehydrogenase (ubiquinon)
- 2Disorder of nervous system
- 2Hereditary disorder of musculoskeletal system
- 2Inherited metabolic disorder of nervous system
- 2Mitochondrial myopathy
- 3Clinical finding
- 3Disorder of body system
- 3Disorder of mitochondrial respiratory chain complexes
- 3Disorder of musculoskeletal system
- 3Enzymopathy
- 3Hereditary disorder by system
- 3Hereditary disorder of nervous system
- 3Inborn error of metabolism
- 3Metabolic myopathy
- 3Mitochondrial cytopathy
- 3Specific enzyme deficiency
- 4Congenital disease
- 4Disease
- 4Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 4Disorder of skeletal muscle
- 4Hereditary disease
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