Ehlers-Danlos-syndroom van spondylocheirodysplastisch type (aandoening)
Ehlers-Danlos-syndroom van spondylocheirodysplastisch type
syndroom van Ehlers-Danlos van spondylocheirodysplastisch type
Ehlers-Danlos syndrome spondylocheirodysplastic type
A subtype of Ehlers-Danlos syndrome with characteristics of skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. There is evidence the disease is caused by homozygous mutation of gene SLC39A13 on chromosome 11p11.2.
Associated morphologydysplasie
Finding sitestructuur van huid
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified