Preferred Label : Cap disease;
ICD-11 definition : Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal,
distal, facial and respiratory muscles associated with craniofacial and thoracic deformities.
Onset is at birth or in childhood, weakness progression is slow but may lead to a
severe and even fatal prognosis.;
Origin ID : 482118421;
UMLS CUI : C3710589;
Currated CISMeF NLP mapping
- Semantic type(s)
Cap myopathy is a very rare congenital myopathy presenting a weakness of proximal,
distal, facial and respiratory muscles associated with craniofacial and thoracic deformities.
Onset is at birth or in childhood, weakness progression is slow but may lead to a
severe and even fatal prognosis.
