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auto-inflammatoir syndroom met pyogene bacteriële infectie en glycogeenstapelingsziekte type 4 (aandoening)
auto-inflammatoir syndroom met pyogene bacteriële infectie en glycogeenstapelingsziekte type 4
auto-inflammatoir syndroom met infectie door pyogene bacterie en glycogeenstapelingsziekte type 4
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
A rare genetic mixed autoinflammatory and autoimmune syndrome with characteristics of chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.
Id829973009
StatusPrimitive
Associated morphologyinflammatoire morfologie
Pathological processafwijkend immuunproces
Clinical coursechronisch
referentieset met complexe 'mapping' naar ICD-10
TargetM35.8
RuleTRUE
AdviceALWAYS M35.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified