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osteogenesis imperfecta met hoge botmassa (aandoening)
osteogenesis imperfecta met hoge botmassa
High bone mass osteogenesis imperfecta
High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal.
Id782781006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretsossificatie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map314029
SNOMED CT to ICD-10 extended map
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified