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.

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Term information

database cross reference
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UMLS:C0267662

OMIM:214700

ICD-10:P78.3

MeSH:C536210

notation

ORPHA:53689