| lipodystrofie door deficiëntie van peptidische groeifactoren (aandoening) | | lipodystrofie door deficiëntie van peptidische groeifactoren | | syndroom van Hoepffner-Dreyer-Reimers
| | Lipodystrophy due to peptidic growth factors deficiency | | Hoepffner Dreyer Reimers syndrome
Werner-like syndrome due to combined growth factor deficiency
Combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency
| | Syndrome that has characteristics of loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). The syndrome has been described in only one family with three affected siblings. Other clinical signs are joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, and micrognathia. One sibling also showed insulin-resistant diabetes mellitus. The syndrome is due to a combined decreased action of insulin, insulin-like growth factor I (IGF-1) and epidermal growth factor (EGF). The disease shows common clinical characteristics with Werner syndrome. |
| | Id | 724176001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | E88.1 | | Term | Lipodystrofie, niet elders geclassificeerd |
|
| SNOMED CT to Orphanet simple map | 1979 |
| SNOMED CT to ICD-10 extended map | | Target | E88.1 | | Rule | TRUE | | Advice | ALWAYS E88.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
