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
A rare subtype of Joubert syndrome with manifestation of the neurological features of Joubert Syndrome associated with renal disease, in the absence of retinopathy. Prevalence is unknown. In most cases the renal disease manifests as juvenile nephronophthisis, with onset of clinical symptoms in the late first/early second decade of life, although in rare cases there may be infantile nephronophthisis, with onset in the first years of life. The most commonly mutated genes in this subtype are NPHP1 (2q13) and RPGRIP1L (16q12.2) with autosomal recessive inheritance.
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
CorrelationSNOMED CT source code to target map code correlation not specified
TargetN07.9
RuleTRUE
AdviceALWAYS N07.9
CorrelationSNOMED CT source code to target map code correlation not specified