Orphanet: Congenital chloride diarrhea

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Congenital chloride diarrhea

Disease definition

A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: K90.8
  • OMIM: 214700
  • UMLS: C0267662
  • MeSH: C536210
  • GARD: 10001
  • MedDRA: -
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