myopathy, limb-girdle, with bone fragility

Preferred Label : myopathy, limb-girdle, with bone fragility;

Origin ID

C536104;

UMLS CUI

C1864970;

CISMeF manual mappings
- Diaphyseal medullary stenosis-bone malignancy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Diaphyseal medullary stenosis with bone malignancy (disorder) [SNOMED CT concept]
- Diaphyseal medullary stenosis with malignant fibrous histiocytoma [OMIM Phenotype]
Has phenotype(s) (HPO)
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness occurs later [HPO term]
- EMG shows myopathic changes [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
- Soft, thin skin [HPO term]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- myopathy, limb-girdle, with bone fragility [MeSH concept]
See also inter- (CISMeF)
- Hardcastle's Syndrome [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]