" /> Epidermolysis bullosa simplex with pyloric atresia - CISMeF





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;

Details


You can consult :

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.

Nous contacter.
02/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.