||||
spondylo-epimetafysaire dysplasie matriline 3-type (aandoening)
spondylo-epimetafysaire dysplasie matriline 3-type
SEMD MATN3-type
Spondyloepimetaphyseal dysplasia matrilin-3 type
Disease that has characteristics of disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. The syndrome has been described in a large consanguineous Arab Muslim family. It is caused by mutation in the matrilin-3 gene (MATN3, 2p24-p23) and transmitted in an autosomal recessive manner.
Id719166003
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ77.7
RuleTRUE
AdviceALWAYS Q77.7
CorrelationSNOMED CT source code to target map code correlation not specified