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Cryptogenic multifocal ulcerous stenosing enteritis

Disease definition

A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous strictures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.

ORPHA:468635

Classification level: Disorder
  • Synonym(s):
    • CMUSE
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adolescent, Adult
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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