Congenital chloride diarrhea

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

*Soruce