Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder

Preferred Label : Muscular Dystrophy Secondary to Oxidative Phosphorylation Disorder;

NCIt related terms : Ox/Phos;

NCIt definition : A muscular dystrophy that was caused by a primary disorder of oxidative phosphorylation.;

Alternative definition : ACC/AHA: Muscular dystrophy secondary to a genetic defect that interferes with oxidative phosphorylation frequently associated with severe neurologic abnormalities.;

NCI Metathesaurus CUI : CL972650;

Details

Origin ID

C168332;

UMLS CUI

C5238796;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
concept_is_in_subset
- ACC/AHA Pediatric and Congenital Cardiology EHR Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]

Keyword's position in hierarchy(ies) :

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