pseudohypoparathyreoïdie type II (aandoening)
pseudohypoparathyreoïdie type II
PTH-resistentie type II
pseudohypoparathyroïdie type 2
syndroom van Albright type 2
Pseudohypoparathyroidism type II
Pseudohypoparathyroidism type 2
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesized that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism.
Has interpretationverlaagd
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS E20.1
CorrelationSNOMED CT source code to target map code correlation not specified