Spheroid body myopathy

Preferred Label : Spheroid body myopathy;

ICD-11 definition : Spheroid body myopathy is a rare illness classified in the group of the congenital myopathies as a desmin-related neuromuscular disorder, presenting dominant autosomical origin with the beginning of the symptoms in the adult phase. Muscle biopsy discloses characteristic spheroid cytoplasmic bodies.;

Details

Origin ID

83824621;

UMLS CUI

C1866785;

Currated CISMeF NLP mapping
- Myopathy, spheroid body [OMIM Phenotype]
- Spheroid body myopathy [MeSH concept]
- Spheroid body myopathy [ORDO Disease]
- Spheroid body myopathy [MeSH Supplementary Concept]
- Spheroid body myopathy (disorder) [SNOMED CT concept]
- spheroid body myopathy [DO Concept]
See also inter- (CISMeF)
- convulsions benign familial neonatal dominant form [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, spheroid body [OMIM Phenotype]
- Spheroid body myopathy [MeSH Supplementary Concept]
- Spheroid body myopathy [ORDO Disease]
- Spheroid body myopathy (disorder) [SNOMED CT concept]
- spheroid body myopathy [DO Concept]

Keyword's position in hierarchy(ies) :

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