Catalog

Familial isolated hypoparathyroidism

No MMS code

Link to WHO Definition

Familial isolated hypoparathyroidism – http://id.who.int/icd/entity/1079633828

Familial isolated hypoparathyroidism is a rare heterogeneous group of metabolic disorders characterised by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects, with autosomal dominant or recessive inheritance.