Familial isolated hypoparathyroidism

Orpha code: 2238OMIM code: 601198

Definition

A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.

Disease data
Classification

Disease

ORPHA code
2238
OMIM code
601198
ICD10 code
E20.8
ICD11 code
5A50.0Y

No additional description.

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