| 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
| | A rare genetic lipodystrophy characterized by 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). Additional clinical signs include joint contractures, reduced relative body weight, a bird-like facial appearance with a beaked nose, micrognathia and insulin-resistant diabetes mellitus. |
| | Id | 724176001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| 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 |
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