Hereditary hypophosphatemic rickets with hypercalciuria

Orpha code: 157215OMIM code: 241530

Definicja

A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.

Disease data
Klasyfikacja

Disease

Synonimy
HHRH
HHRH
Kod ORPHA
157215
Kod OMIM
241530
Kod ICD10
E83.3
Kod ICD11
-

No additional description.

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