spondylo-epimetafysaire dysplasie type aggrecan (aandoening)
spondylo-epimetafysaire dysplasie type aggrecan
Spondyloepimetaphyseal dysplasia aggrecan type
A new form of skeletal dysplasia with manifestations of severe short stature, facial dysmorphism and characteristic radiographic findings. To date, three cases have been described, all originating from the same family. The disease results from a missense mutation affecting the C-type lectin domain of aggrecan (AGC1 gene; chromosome 15) which regulates endochondral ossification. Transmission is autosomal recessive.
Associated morphologydysplasie
Finding sitebotstructuur
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified