Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria. Disease data Classification Disease Synonyms Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familial infantile hypercalcemia with suppressed intact parathyroid hormone ORPHA code 300547 OMIM code 143880 ICD10 code E83.5 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