|||
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
Id733468006
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDentin structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
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