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Ehlers-Danlos and osteogenesis imperfecta syndrome (disorder)
Ehlers-Danlos and osteogenesis imperfecta syndrome
An association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.
Ehlers-Danlos-syndroom met osteogenesis imperfecta
osteogenesis-imperfecta-type van EDS
oiEDS
Id733457006
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsBone formation
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ78.0
RuleTRUE
AdviceALWAYS Q78.0
CorrelationSNOMED CT source code to target map code correlation not specified