| syndroom van dyschondrosteose en nefritis (aandoening) DEPRECATED | | syndroom van dyschondrosteose en nefritis | | Dyschondrosteosis and nephritis syndrome | | The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant. |
| | Id | 722433005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1765 |
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