| familiaire geïsoleerde hypoparathyreoïdie (aandoening) | | familiaire geïsoleerde hypoparathyreoïdie | | familiaire geïsoleerde hypoparathyrose
familiale geïsoleerde hypoparathyroïdie
| | Familial isolated hypoparathyroidism | | A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor. |
| | Id | 725036000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E20.8 | | Term | Overige gespecificeerde vormen van hypoparathyroïdie |
|
| SNOMED CT to Orphanet simple map | 2238 |
| SNOMED CT to ICD-10 extended map | | Target | E20.8 | | Rule | TRUE | | Advice | ALWAYS E20.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
