Proximal myopathy with focal depletion of mitochondria

Preferred Label : Proximal myopathy with focal depletion of mitochondria;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? Autosomal dominant;

Prefixed ID : 600706;

Details

Origin ID

600706;

UMLS CUI

C1833453;

Currated CISMeF NLP mapping
- Proximal myopathy with focal depletion of mitochondria [ORDO Disease]
- Proximal myopathy with focal depletion of mitochondria (disorder) [SNOMED CT concept]
- proximal myopathy with focal depletion of mitochondria [MeSH concept]
- proximal myopathy with focal depletion of mitochondria [MeSH Supplementary Concept]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness, mild [HPO term]
ORDO concept(s)
- Proximal myopathy with focal depletion of mitochondria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Proximal myopathy with focal depletion of mitochondria (disorder) [SNOMED CT concept]
- proximal myopathy with focal depletion of mitochondria [MeSH Supplementary Concept]
- proximal myopathy with focal depletion of mitochondria [MeSH concept]

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