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Joubert-syndroom met oculorenale afwijkingen (aandoening)
Joubert-syndroom met oculorenale afwijkingen
syndroom van Arima
syndroom van cerebellaire vermisagenesie met oog- en nierafwijkingen
cerebello-oculorenaalsyndroom
syndroom van Joubert met oog- en nierafwijkingen
Joubert syndrome with oculorenal defect
Cerebello-oculo-renal syndrome
Arima syndrome
A rare subtype of Joubert syndrome and related disorders with characteristics of the neurological features of Joubert syndrome associated with both renal and ocular disease. Prevalence is unknown. The patient presents with retinal involvement (manifesting with either Leber congenital amaurosis or progressive retinal dystrophy) and nephronophthisis (usually juvenile). Retinal involvement is present at birth or may manifest later in life. Juvenile nephronophthisis usually becomes clinically symptomatic towards the late first decade or the early second decade of life. About 50% of patients carry mutations in the CEP290 gene (12q21.33), the syndrome is transmitted in an autosomal recessive manner.
Id721862000
StatusPrimitive
Associated morphologyaplasia
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified