| syndroom van teleangiëctasie, polycytemie, monoklonale gammopathie, perirenale vochtophoping en intrapulmonale shunting (aandoening) | | syndroom van teleangiëctasie, polycytemie, monoklonale gammopathie, perirenale vochtophoping en intrapulmonale shunting | | syndroom van telangiectasia, erytrocytose, monoklonale gammopathie, perinefritische vochtophoping en intrapulmonale shunting
TEMPI-syndroom
| | TEMPI syndrome | | Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome
| | A rare multi-systemic disease with less than 10 cases described in literature. Manifests in mid-adulthood with the development of telangiectasia mostly on the face, trunk and arms, as well as with erythrocytosis that may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen. Blood clots, probably due to erythrocytosis, and bleeding in the brain have also been reported in some affected individuals. Monoclonal gammopathy and perinephric fluid collections are usually found incidentally and do not seem to cause any complications. The syndrome has a slow and regular progression. The cause of TEMPI syndrome is currently unknown. The abnormal plasma-cell clone and/or the monoclonal gammopathy are suggested to be triggers of the disease. |
| | Id | 718614004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 284227 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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