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multipele epifysaire dysplasie met mini-epifysen (aandoening)
multipele epifysaire dysplasie met mini-epifysen
meervoudige epifysaire dysplasie met mini-epifysen
Multiple epiphyseal dysplasia with miniepiphyses
A rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported.
Id766750008
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ77.3
TermChondrodysplasia punctata
SNOMED CT to Orphanet simple map166032
SNOMED CT to ICD-10 extended map
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified