| multipele epifysaire dysplasie type 1 (aandoening) | | multipele epifysaire dysplasie type 1 | | MED type 1
meervoudige epifysaire dysplasie type 1
| | Multiple epiphyseal dysplasia type 1 | | Polyepiphyseal dysplasia type 1
| | Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. |
| | Id | 715673002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 93308 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.3 | | Rule | TRUE | | Advice | ALWAYS Q77.3 | 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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