| pseudohypoparathyreoïdie type II (aandoening) | | pseudohypoparathyreoïdie type II | | syndroom van Albright type 2
PTH-resistentie type II
pseudohypoparathyroïdie type 2
|  | Dit betekent dat je lichaam niet goed reageert op een hormoon van je bijschildklieren. Dit kan vaker voorkomen in je familie. Je bijschildklieren liggen aan de onderkant van je hals, achter je schildklier. Ze helpen je lichaam om de hoeveelheid calcium in je bloed te regelen. | | 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. |
| | Id | 42183005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 94090 |
| SNOMED CT to ICD-10 extended map | | Target | E20.1 | | Rule | TRUE | | Advice | ALWAYS E20.1 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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