Preferred Label : Epidermolysis bullosa simplex with pyloric atresia;
ICD-11 definition : Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is an autosomal recessive
basal subtype of EBS due to mutations in the PLEC gene encoding plectin. It is characterized
by generalised severe blistering with widespread congenital absence of skin and pyloric
atresia.;
ICD-11 synonym : EBS - [epidermolysis bullosa simplex] with pyloric atresia; EBS with pyloric atresia; EBS-PA - [epidermolysis bullosa simplex with pyloric atresia];
ICD-11 acronym : EBS-PA;
Origin ID : 1648939146;
Currated CISMeF NLP mapping
See also inter- (CISMeF)
Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is an autosomal recessive
basal subtype of EBS due to mutations in the PLEC gene encoding plectin. It is characterized
by generalised severe blistering with widespread congenital absence of skin and pyloric
atresia.