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Isolated biliary atresia

Disease definition

Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ORPHA:30391

Classification level: Disorder
  • Synonym(s):
    • Isolated atresia of bile ducts
    • Non-syndromic biliary atresia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Multigenic/multifactorial 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q44.2
  • OMIM: 210500
  • UMLS: C0005411
  • MeSH: D001656
  • GARD: 12010
  • MedDRA: 10003650

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