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autosomaal dominante polycysteuze nierziekte type 1 met tubereuze sclerose (aandoening)
autosomaal dominante polycysteuze nierziekte type 1 met tubereuze sclerose
syndroom van tubereuze sclerose, polycysteuze nierziekte en 'contiguous genes'
tubereuze sclerose en polycysteuze nierziekte en 'contiguous-gene syndrome'
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Tuberous sclerosis, polycystic kidney disease contiguous gene syndrome
Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant.
Id765331004
StatusPrimitive
Associated morphologypolycysteuze verandering
Finding sitestructuur van nier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyneoplasma
Finding sitestructuur van systema nervosum
Occurrencecongenitaal
Associated morphologyneoplasma
Finding sitestructuur van huid
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ61.2
TermPolycystische nier, autosomaal dominant
TargetQ85.1
TermTubereuze sclerose
SNOMED CT to Orphanet simple map88924
SNOMED CT to ICD-10 extended map
TargetQ61.2
RuleTRUE
AdviceALWAYS Q61.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ85.1
RuleTRUE
AdviceALWAYS Q85.1
CorrelationSNOMED CT source code to target map code correlation not specified