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Ehlers-Danlos-syndroom met osteogenesis imperfecta (aandoening)
Ehlers-Danlos-syndroom met osteogenesis imperfecta
oiEDS
osteogenesis-imperfecta-type van EDS
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.
Id733457006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretsossificatie
Has interpretationonder referentiebereik
Interpretsbotdensitometrie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ79.6
TermSyndroom van Ehlers-Danlos
TargetQ78.0
TermOsteogenesis imperfecta
SNOMED CT to Orphanet simple map230857
SNOMED CT to ICD-10 extended map
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