multipele epifysaire dysplasie type 5 (aandoening)
multipele epifysaire dysplasie type 5
MED type 5
meervoudige epifysaire dysplasie type 5
Multiple epiphyseal dysplasia type 5
Polyepiphyseal dysplasia type 5
A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.
Associated morphologydysplasie
Finding sitestructuur van epiphysis
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map93311
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified