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. |
| Id | 771471002 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | Target | H47.1 | Term | Papiloedeem, niet gespecificeerd |
Target | R16.1 | Term | Splenomegalie, niet elders geclassificeerd |
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SNOMED CT to Orphanet simple map | 313800 |
SNOMED CT to ICD-10 extended map | Target | H47.1 | Rule | TRUE | Advice | ALWAYS H47.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
Target | R16.1 | Rule | TRUE | Advice | ALWAYS R16.1 | Correlation | SNOMED CT source code to target map code correlation not specified |
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