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syndroom van ganglioneuroblastoom en ziekte van Hirschsprung (aandoening)
syndroom van ganglioneuroblastoom en ziekte van Hirschsprung
syndroom van ganglioneuroblastoom en aganglionair megacolon
syndroom van ganglioneuroblastoom en megacolon congenitum
syndroom van ganglioneuroblastoom en aganglionose
Hirschsprung disease, ganglioneuroblastoma syndrome
A rare genetic developmental defect during embryogenesis syndrome with characteristics of total or partial colonic aganglionosis associated with peripheral usually multifocal, neuroblastic neoplasm (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction is occasionally associated.
Id783737007
StatusPrimitive
Associated morphologydilatatie
Finding sitegedeelte van dikke darm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypertrofie
Finding sitegedeelte van dikke darm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyneuro-epitheliomateus neoplasma
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ43.1
TermZiekte van Hirschsprung
TargetC47.9
TermMaligne neoplasma van perifere zenuwen en autonoom zenuwstelsel, niet gespecificeerd
SNOMED CT to Orphanet simple map2151
SNOMED CT to ICD-10 extended map
TargetQ43.1
RuleTRUE
AdviceALWAYS Q43.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified