| syndroom van skeletdysplasie met wormiaanse botstructuren, multipele fracturen en dentinogenesis imperfecta (aandoening) | | syndroom van skeletdysplasie met wormiaanse botstructuren, multipele fracturen en dentinogenesis imperfecta | | syndroom van Suarez-Stickler
| | Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome | | Suarez Stickler syndrome
| | Very rare syndrome with clinical characteristics of multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. |
| | Id | 733468006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q78.8 | | Term | Overige gespecificeerde osteochondrodysplasieën |
| Target | K00.5 | | Term | Erfelijke afwijkingen van tandstructuur, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 166277 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.8 | | Rule | TRUE | | Advice | ALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | K00.5 | | Rule | TRUE | | Advice | ALWAYS K00.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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