aandoening van retina
cerebellaire-vermis-agenesiesyndroom
hereditaire aandoening van visueel systeem
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Joubert-syndroom met oculair defect (aandoening)
Joubert-syndroom met oculair defect
syndroom van cerebellaire vermis agenesie met retinopathie
Joubert-syndroom met oogafwijking
syndroom van Joubert met retinopathie
Joubert syndrome with ocular defect
Joubert syndrome with retinopathy
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with retinal dystrophy.
Id716998009
StatusPrimitive
Finding sitestructuur van retina
Associated morphologyaplasia
Finding sitestructuur van vermis cerebelli
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map220493
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5
CorrelationSNOMED CT source code to target map code correlation not specified