Autosomal dominant hereditary disorder
Multiple epiphyseal dysplasia
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Multiple epiphyseal dysplasia type 1 (disorder)
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.
multipele epifysaire dysplasie type 1
meervoudige epifysaire dysplasie type 1
MED type 1
Id715673002
StatusPrimitive
Associated morphologyDysplasia
Finding siteStructure of epiphysis
OccurrenceCongenital
Pathological processPathological developmental process
Clinical courseProgressive
InterpretsHeight / growth measure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.3
RuleTRUE
AdviceALWAYS Q77.3
CorrelationSNOMED CT source code to target map code correlation not specified