Congenital chloride diarrhea

Orpha code: 53689OMIM code: 214700

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.

Disease data
Classification

Disease

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

No additional description.

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