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steriele multifocale osteomyelitis met periostitis en pustulose (aandoening)
steriele multifocale osteomyelitis met periostitis en pustulose
OMPP
auto-inflammatoire aandoening door interleukine-1-receptorantagonistdeficiëntie
interleukine-1-receptorantagonistdeficiëntie
Sterile multifocal osteomyelitis with periostitis and pustulosis
Interleukin-1 receptor antagonist deficiency
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
OMPP - sterile osteomyelitis, multifocal with periostitis and pustulosis
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.
Id773702002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypustel
Finding sitestructuur van huid
Occurrenceneonataal
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Occurrencecongenitaal
Pathological processafwijkend immuunproces
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetM86.89
RuleTRUE
AdviceALWAYS M86.89 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified