multipele epifysaire dysplasie type 5 (aandoening) | | multipele epifysaire dysplasie type 5 | | MED type 5 meervoudige epifysaire dysplasie type 5
| | Multiple epiphyseal dysplasia type 5 | | Polyepiphyseal dysplasia type 5
| | Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. |
| Id | 715674008 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 93311 |
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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