multipele epifysaire dysplasie type 1 (aandoening)
multipele epifysaire dysplasie type 1
MED type 1
meervoudige epifysaire dysplasie type 1
Multiple epiphyseal dysplasia type 1
Polyepiphyseal dysplasia type 1
A form of multiple epiphyseal dysplasia manifesting as normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early onset osteoarthrosis. Specific features include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. The disease 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 map93308
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified