Синдром вродженої натрієвої діареї
ORPHA:563708· ICD-10 K59.8· Syndromic congenital sodium diarrhea
Визначення(English summary)
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.
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal