5A51.2

ICD-11 MMS 2026-01

Familial hypocalciuric hypercalcaemia

Description

Familial Hypocalciuric Hypercalcaemia (FHH) or benign familial hypercalcaemia is an autosomal dominant disorder of calcium metabolism that is often asymptomatic and that is biologically characterised by a significant but moderate hypercalcaemia. Serum levels of parathyroid hormone are normal or slightly increased, and urinary calcium excretion is relatively low for hypercalcaemia. CASR, GNA11 and AP2S1 have been identified as causative genes.

Index terms

  • Familial hypocalciuric hypercalcaemia
  • Benign familial hypercalcemia
  • FHH - [familial hypocalciuric hypercalcaemia]
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  • Hereditary hypocalciuric hypercalcaemia

Exclusions from above levels

  • 5B57.0 – infantile and juvenile osteomalacia
  • FB83.2 – Adult osteomalacia
  • 5B57 – Hypovitaminosis D
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  • 5C54.1 – Hyperphosphataemic familial tumoural calcinosis
  • 5C63.20 – Hypocalcaemic vitamin D dependent rickets
  • 5C63.21 – Hypocalcaemic vitamin D resistant rickets
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5A51.0 – Primary hyperparathyroidism
  • 5A51.1 – Secondary hyperparathyroidism
  • 5A51.Y – Other specified hyperparathyroidism
  • 5A51.Z – Hyperparathyroidism, unspecified

Foundation entity

Familial hypocalciuric hypercalcaemia – http://id.who.int/icd/entity/81374726

Part of: 5A51: Hyperparathyroidism › 05: Endocrine, nutritional or metabolic diseases