||||||||||
arterieel retinaal macroaneurysma met supravalvulaire pulmonalisklepstenose (aandoening)
arterieel retinaal macroaneurysma met supravalvulaire pulmonalisklepstenose
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
FRAM - familial retinal arterial macroaneurysm
RAMSVPS - retinal arterial macroaneurysm with supravalvular pulmonic stenosis
Familial retinal arterial macroaneurysm
Syndrome with characteristics of macroaneurysms of retina which may rupture causing bleeding and loss of vision, in association with supravalvular pulmonic stenosis. The disease is caused by a mutation in the IGFBP7 (insulin-like growth factor-binding protein 7) gene which is active in the vascular endothelium. The IGFBP7 gene mutation results in an abnormally short IGFBP7 protein that does not function properly.
Id764452004
StatusPrimitive
Associated morphologymacroaneurysma
Finding sitestructuur van arteria retinae
Associated morphologyaneurysma
Finding sitestructuur van arteria retinae
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ14.1
RuleTRUE
AdviceALWAYS Q14.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ25.6
RuleTRUE
AdviceALWAYS Q25.6
CorrelationSNOMED CT source code to target map code correlation not specified