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syndroom van spinocerebellaire degeneratie en corneadystrofie (aandoening)
syndroom van spinocerebellaire degeneratie en corneadystrofie
Corneal cerebellar syndrome
Der Kaloustian Jarudi Khoury syndrome
Spinocerebellar degeneration and corneal dystrophy syndrome
Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
Id720750004
StatusPrimitive
Associated morphologydegeneratieve afwijking
Finding sitestructuur van cerebellum
Associated morphologydystrofie
Finding sitestructuur van cornea
referentieset met complexe 'mapping' naar ICD-10
TargetG11.1
RuleTRUE
AdviceALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified