OMOP Concept 4029104
Deficiency in enzyme complexes of mitochondrial respiratory chain
StandardConditionSNOMED237987001Disorder
Maps from
0
Descendants
25
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
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Synonyms
Alternative names recorded for Deficiency in enzyme complexes of mitochondrial respiratory chain across source vocabularies.
- deficiencia de complejo enzimático de la cadena respiratoria mitocondrial
- deficiencia de complejo enzimático de la cadena respiratoria mitocondrial (trastorno)
- Deficiency in enzyme complexes of mitochondrial respiratory chain (disorder)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(12)Roll up to these when you need a wider cohort.
- 1Disorder of mitochondrial respiratory chain complexes
- 1Enzymopathy
- 2Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 2Metabolic disease
- 3Disease
- 3Inborn error of metabolism
- 4Clinical finding
- 4Congenital disease
- 4Hereditary metabolic disease
- 5Fetal and/or neonatal disorder
- 5Hereditary disease
- 6Genetic disease
Narrower concepts
(25)Included automatically when you query with descendants.
- 1Combined complex deficiencies
- 1Combined oxidative phosphorylation defect type 25
- 1Cytochrome-c oxidase deficiency
- 1Deficiency of cytochrome-b-5 reductase
- 1Deficiency of NADPH-ferrihemoprotein reductase
- 1Deficiency of NAPH cytochrome-c-2 reductase
- 1Isolated ATP synthase deficiency
- 1Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- 1Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
- 1Succinate-coenzyme Q reductase deficiency
- 1Ubiquinone dehydrogenase deficiency
- 2Congenital lactic acidosis Saguenay-Lac-Saint-Jean type
- 2Fatal infantile cytochrome C oxidase deficiency
- 2Isolated cytochrome C oxidase deficiency
- 2Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
- 2Mitochondrial respiratory chain complex I assembly gene defect
- 2Mitochondrial respiratory chain complex II assembly gene defect
- 2Mitochondrial respiratory chain complex III assembly gene defect
- 2Mitochondrial respiratory chain complex III structural subunit gene defect
- 2Mitochondrial respiratory chain complex II structural subunit gene defect
- 2Mitochondrial respiratory chain complex I structural subunit gene defect
- 2Mitochondrial respiratory chain complex IV assembly gene defect
- 2Mitochondrial respiratory chain complex IV structural subunit gene defect
- 2Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
- 3Mitochondrial complex I deficiency nuclear type 10
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