Syndromic congenital sodium diarrhea

Orpha code: 563708OMIM code:

Definicja

A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.

Disease data
Klasyfikacja

Disease

Synonimy
Syndromic congenital tufting enteropathy
Syndromic congenital tufting enteropathy
Kod ORPHA
563708
Kod OMIM
-
Kod ICD10
K59.8
Kod ICD11
-

No additional description.

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