Familial hypocalciuric hypercalcaemia

ICD-11 code : 5A51.2;

Preferred Label : Familial hypocalciuric hypercalcaemia;

ICD-11 definition : 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.;

ICD-11 synonym : Hereditary hypocalciuric hypercalcaemia; Benign familial hypercalcemia;

ICD-11 inclusion : FHH - [familial hypocalciuric hypercalcaemia];

Details

Origin ID

81374726;

Automatic exact mappings (from CISMeF team)
- Familial Hypocalciuric Hypercalcemia [NCIt concept]
- Familial benign hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcaemia [MedDRA Preferred Term]
- Familial hypocalciuric hypercalcemia [MedDRA LLT]
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- Familial hypocalciuric hypercalcemia (disorder) [SNOMED CT concept]
- Hypocalciuric hypercalcemia, familial, type I [OMIM Phenotype]
- familial hyperparathyroidism [SNOMED Notion]
- familial hypocalciuric hypercalcemia [DO Concept]
- hypocalciuric hypercalcemia, familial, type 1 [MeSH Supplementary Concept]
ICD-10 Mapping
- Other hyperparathyroidism [ICD-10 Sub-category]

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