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Hirschsprung disease

Disease definition

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.


  • Synonym(s):
    • Aganglionic megacolon
    • Congenital intestinal aganglionosis
    • HSCR
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Autosomal recessive or Multigenic/multifactorial or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q43.1
  • OMIM: 142623  600155  600156  606874  606875  608462  611644  613711  613712
  • UMLS: C0019569  C3661523
  • MeSH: D006627
  • GARD: 6660
  • MedDRA: 10010539

Detailed information

Article for general public


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