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multipele epifysaire dysplasie type 4 (aandoening)
multipele epifysaire dysplasie type 4
autosomaal recessieve meervoudige epifysaire dysplasie
meervoudige epifysaire dysplasie type 4
MED type 4
Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
A multiple epiphyseal dysplasia with a late-childhood onset manifesting as joint pain involving hips, knees, wrists and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees, scoliosis and slightly reduced adult height. Follows an autosomal recessive mode of transmission
Id715672007
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified