Orphanet: Congenital sodium diarrhea

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Congenital sodium diarrhea

Disease definition

Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.


Classification level: Disorder
  • Synonym(s):
    • Na-H exchange deficiency
    • Non-syndromic congenital sodium diarrhea
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive or Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: P78.3
  • OMIM: 270420  616868
  • UMLS: C0267663
  • MeSH: -
  • GARD: -
  • MedDRA: -
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