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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.

ORPHA:388

Classification level: Disorder
  • 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

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.