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syndroom van ectopia lentis, choroidoretinale dystrofie en myopie (aandoening)
syndroom van ectopia lentis, choroidoretinale dystrofie en myopie
syndroom van ectopia lentis, chorioretinale dystrofie en myopie
Ectopia lentis, chorioretinal dystrophy, myopia syndrome
This syndrome is characterized by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive.
Id722437006
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van choroidea en/of retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ15.8
RuleTRUE
AdviceALWAYS Q15.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified