Preferred Label : Sarcotubular myopathy;
ICD-11 definition : Uncommon congenital myopathy pathologically characterized by isolated segmental vacuolation
of the sarcotubular system (sarcoplasmic reticulum and transverse tubules).;
ICD-11 synonym : TRIM32-vacuolar myopathy;
Origin ID : 1229227864;
UMLS CUI : C0270968;
Currated CISMeF NLP mapping
Semantic type(s)
UMLS correspondences (same concept)
Uncommon congenital myopathy pathologically characterized by isolated segmental vacuolation
of the sarcotubular system (sarcoplasmic reticulum and transverse tubules).