osteogenesis imperfecta type II
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osteogenesis imperfecta type IIB (aandoening)
osteogenesis imperfecta type IIB
osteogenesis imperfecta type 2b
Osteogenesis imperfecta type IIB
Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism.
Id254111008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretsossificatie
SNOMED CT to ICD-10 extended map
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0
CorrelationSNOMED CT source code to target map code correlation not specified