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syndroom van oedeem van nervus opticus en splenomegalie (aandoening)
syndroom van oedeem van nervus opticus en splenomegalie
syndroom van oogzenuwoedeem en splenomegalie
Optic nerve edema, splenomegaly syndrome
A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
Id771471002
StatusPrimitive
Associated morphologyoedeem
Finding sitestructuur van nervus opticus
Occurrencekinderleeftijd
Associated morphologyvergroting
Finding sitegehele milt
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.1
TermPapiloedeem, niet gespecificeerd
TargetR16.1
TermSplenomegalie, niet elders geclassificeerd
SNOMED CT to Orphanet simple map313800
SNOMED CT to ICD-10 extended map
TargetH47.1
RuleTRUE
AdviceALWAYS H47.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR16.1
RuleTRUE
AdviceALWAYS R16.1
CorrelationSNOMED CT source code to target map code correlation not specified