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syndroom van gnathodiafysaire dysplasie (aandoening)
syndroom van gnathodiafysaire dysplasie
Gnathodiaphyseal dysplasia
Gnathodiaphyseal dysplasia syndrome
A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission.
Id715568002
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van cartilago
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ79.8
TermOverige gespecificeerde congenitale misvormingen van botspierstelsel
SNOMED CT to Orphanet simple map53697
SNOMED CT to ICD-10 extended map
TargetQ79.8
RuleTRUE
AdviceALWAYS Q79.8
CorrelationSNOMED CT source code to target map code correlation not specified