cerebellaire-vermis-agenesiesyndroom
hereditaire nefropathie
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cerebellaire-vermis-agenesiesyndroom met renaal defect (aandoening)
cerebellaire-vermis-agenesiesyndroom met renaal defect
syndroom van Joubert met renaal defect
joubertsyndroom met nieruitval
Joubert syndrome with renal defect
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
Id716999001
StatusPrimitive
Finding sitestructuur van nier
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
TargetN07.9
TermHereditaire nefropathie, niet elders geclassificeerd; niet gespecificeerd
SNOMED CT to Orphanet simple map220497
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
TargetQ61.5
RuleTRUE
AdviceALWAYS Q61.5
CorrelationSNOMED CT source code to target map code correlation not specified