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Epidermolysis bullosa simplex with pyloric atresia

^ http://www.orpha.net/ORDO/Orphanet_158684


Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

Synonyms: EBS-PA

Term info

database cross reference
  • ICD-10:Q81.0 (Attributed)
  • ICD-10:Q81.0 (NTBT (narrower term maps to a broader term))
  • UMLS:C2677349 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:612138 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

OMIM:612138, ICD-10:Q81.0, UMLS:C2677349

notation

ORPHA:158684