Hereditary disorder of the visual system
Joubert syndrome
Nephronophthisis
Retinal disorder
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Joubert syndrome with oculorenal defect (disorder)
Joubert syndrome with oculorenal defect
Cerebello-oculo-renal syndrome
Arima syndrome
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease.
Id721862000
StatusPrimitive
Associated morphologyAplasia
Finding siteCerebellar vermis structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyFibrocystic change
Finding siteStructure of medulla of kidney
Pathological processPathological developmental process
Finding siteRetinal structure
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
SNOMED CT to ICD-10 extended map
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