| steriele multifocale osteomyelitis met periostitis en pustulose (aandoening) | | steriele multifocale osteomyelitis met periostitis en pustulose | | interleukine-1-receptorantagonistdeficiëntie
OMPP
auto-inflammatoire aandoening door interleukine-1-receptorantagonistdeficiëntie
| | Sterile multifocal osteomyelitis with periostitis and pustulosis | | Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis
Interleukin-1 receptor antagonist deficiency
| | A rare severe genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe recurrent multifocal aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features. Caused by homozygous mutation in the IL1RN gene on chromosome 2q14. |
| | Id | 773702002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | D89.8 | | Term | Overige gespecificeerde aandoeningen waarbij immuunsysteem betrokken is, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 210115 |
| SNOMED CT to ICD-10 extended map | | Target | M86.89 | | Rule | TRUE | | Advice | ALWAYS M86.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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