| syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke beperking (aandoening) | | syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke beperking | | syndroom van spondylo-epifysaire dysplasie, craniosynostose, palatoschisis, cataract en verstandelijke handicap
syndroom van spondylo-epifysaire dysplasie, craniosynostose, gespleten gehemelte, cataract en mentale retardatie
spondylo-epifysaire dysplasie type Nishimura
| | Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome | | Spondyloepiphyseal dysplasia Nishimura type
| | Spondyloepiphyseal dysplasia Nishimura type has characteristics of spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. The syndrome has been described in four Japanese siblings born to nonconsanguineous parents. Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood. |
| | Id | 718766002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q77.7 | | Term | Spondylo-epifysaire dysplasie |
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| SNOMED CT to Orphanet simple map | 163649 |
| 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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