Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic skin disease characterized by excessive salt wasting in sweat, leading to hyponatremic dehydration, hyperkalemia, and poor feeding and slow weight gain in infancy. Laboratory examination shows hyponatremia, hyperkalemia, increased aldosterone, and increased sweat chloride concentrations. Disease data Classification Disease Synonyms Carbonic anhydrase XII deficiency Carbonic anhydrase XII deficiency ORPHA code 542657 OMIM code 143860 ICD10 code - ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl