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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.
Id733468006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van dentine
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ78.8
TermOverige gespecificeerde osteochondrodysplasie├źn
TargetK00.5
TermErfelijke afwijkingen van tandstructuur, niet elders geclassificeerd
SNOMED CT to Orphanet simple map166277
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.5
RuleTRUE
AdviceALWAYS K00.5
CorrelationSNOMED CT source code to target map code correlation not specified