Congenital chloride diarrheaGo to external page http://www.orpha.net/ORDO/Orphanet_53689
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.
- ICD-10:P78.3 (Attributed (The ICD10 code is attributed by Orphanet))
- ICD-10:P78.3 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- MeSH:C536210 (E (Exact mapping: the two concepts are equivalent))
- OMIM:214700 (E (Exact mapping: the two concepts are equivalent))
- UMLS:C0267662 (E (Exact mapping: the two concepts are equivalent))