OMOP Concept 37168358
Combined oxidative phosphorylation defect type 39
StandardConditionSNOMED1279845005Disorder
Maps from
0
Descendants
0
Valid from
30 Apr 2023
Valid to
31 Dec 2099
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Synonyms
Alternative names recorded for Combined oxidative phosphorylation defect type 39 across source vocabularies.
- Combined oxidative phosphorylation defect type 39 (disorder)
- COXPD39 - combined oxidative phosphorylation defect type 39
- deficiencia combinada de la fosforilación oxidativa asociada a gen GFM2
- deficiencia combinada de la fosforilación oxidativa tipo 39
- deficiencia combinada de la fosforilación oxidativa tipo 39 (trastorno)
- GFM2-related combined oxidative phosphorylation defect
- GTP dependent ribosome recycling factor mitochondrial 2-related combined oxidative phosphorylation defect
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(35)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Developmental hereditary disorder
- 1Genetic intellectual disability
- 1Hereditary disorder of musculoskeletal system
- 1Mitochondrial myopathy
- 1Neurodevelopmental delay
- 2Autosomal hereditary disorder
- 2Developmental delay
- 2Developmental disorder
- 2Disorder of musculoskeletal system
- 2Genetic disease
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Intellectual disability
- 2Metabolic myopathy
- 2Mitochondrial cytopathy
- 2Neurodevelopmental disorder
- 3Abnormal behavior
- 3Disease
- 3Disorder of body system
- 3Disorder of skeletal muscle
- 3Impaired cognition
- 3Intellectual ability - finding
- 3Metabolic disease
- 3Musculoskeletal finding
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