Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome (disorder) | | 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. | | syndroom van skeletdysplasie met wormiaanse botstructuren, multipele fracturen en dentinogenesis imperfecta | | syndroom van Suarez-Stickler
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| Id | 733468006 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
ICD-10 complex map reference set | 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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