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syndroom van aniridie, verstandelijke beperking en cerebellaire ataxie (aandoening)
syndroom van aniridie, verstandelijke beperking en cerebellaire ataxie
syndroom van aniridie, verstandelijke handicap en cerebellaire ataxie
syndroom van afwezigheid van iris, mentale retardatie en cerebellaire ataxie
syndroom van Gillespie
Gillespie syndrome
Aniridia, cerebellar ataxia, intellectual disability syndrome
A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed.
Id253176002
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified