Autosomal dominant hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
Osteogenesis imperfecta
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High bone mass osteogenesis imperfecta (disorder)
High bone mass osteogenesis imperfecta
A rare genetic primary bone dysplasia disorder with characteristics of increased bone fragility manifesting with multiple childhood-onset vertebral and peripheral fractures that are 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.
osteogenesis imperfecta met hoge botmassa
Id782781006
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsBone formation
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0
CorrelationSNOMED CT source code to target map code correlation not specified