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.
Has interpretationverlaagd
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige gespecificeerde vormen van hypoparathyroïdie
SNOMED CT to Orphanet simple map2238
SNOMED CT to ICD-10 extended map
AdviceALWAYS E20.8
CorrelationSNOMED CT source code to target map code correlation not specified