OMOP Concept 36683249
Isolated ATP synthase deficiency
StandardConditionSNOMED780820008Disorder
Maps from
0
Descendants
0
Valid from
31 Jan 2019
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Isolated ATP synthase deficiency across source vocabularies.
- deficiencia aislada de adenosina trifosfato sintasa
- deficiencia aislada de adenosina trifosfato sintasa (trastorno)
- deficiencia aislada de ATP-sintasa
- Isolated adenosine triphosphate synthase deficiency
- Isolated adenosine triphosphate synthase deficiency (disorder)
- Isolated mitochondrial respiratory chain complex V deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(15)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Deficiency in enzyme complexes of mitochondrial respiratory chain
- 2Autosomal hereditary disorder
- 2Disorder of mitochondrial respiratory chain complexes
- 2Enzymopathy
- 3Disorder of pyruvate metabolism and mitochondrial respiratory chain
- 3Hereditary disease
- 3Metabolic disease
- 4Disease
- 4Genetic disease
- 4Inborn error of metabolism
- 5Clinical finding
- 5Congenital disease
- 5Hereditary metabolic disease
- 6Fetal and/or neonatal disorder
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