| Pseudohypoparathyroidism type II (disorder) | | 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 |
| SNOMED CT to Orphanet simple map |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E20.1 | | Term | Pseudohypoparathyroïdie |
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| 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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