multipele epifysaire dysplasie door collageen-9-afwijking (aandoening)
multipele epifysaire dysplasie door collageen-9-afwijking
meervoudige epifysaire dysplasie door collageen-9-anomalie
Multiple epiphyseal dysplasia due to collagen 9 anomaly
A rare primary bone dysplasia disorder with characteristics of normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (including varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermChondrodysplasia punctata
SNOMED CT to Orphanet simple map166002
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified