| syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid (aandoening) | | syndroom van spondylo-epifysaire dysplasie, myopie en sensoneurinale doofheid | | spondylo-epifysaire dysplasie type MacDermot
| | Spondyloepiphyseal dysplasia MacDermot type | | Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome
| | Spondyloepiphyseal dysplasia MacDermot type has characteristics of short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. The syndrome has been described in a family in which females in four successive generations were affected. Myopia and retinal detachment were present in adult life. |
| | Id | 718763005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 163668 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.7 | | Rule | TRUE | | Advice | ALWAYS Q77.7 | 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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