Congenital chloride diarrhea

Orpha code: 53689OMIM code: 214700

Definicja

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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
53689
Kod OMIM
214700
Kod ICD10
P78.3
Kod ICD11
-

No additional description.

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