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Early-onset autoinflammatory syndrome due to A20 haploinsufficiency (disorder)
Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
Early-onset autoinflammatory syndrome associated with TNFAIP3
HA20 (A20 haploinsufficiency) related monogenic Behcet-like disease
Early-onset autoinflammatory disorder due to HA20 (A20 haploinsufficiency)
A rare autoinflammatory syndrome characterized by mostly early-onset, recurrent, refractory fever attacks, painful and recurrent mucosal ulceration affecting predominantly gastrointestinal (that may lead to inflammatory bowel disease), oral and genital areas. Additional variable features may include skin rash, psoriasis, axillary dermal abscesses, musculoskeletal disorders, polyarthritis, arthralgia, and autoimmune thyroid disorder. Ocular manifestations (including uveitis, chorioretinal scarring and macular fibrosis secondary to retinal vasculitis) are infrequent.
Id1388879009
StatusPrimitive
Clinical courserecidiverend
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
SNOMED CT to ICD-10 extended map
TargetD89.8
RuleTRUE
AdviceALWAYS D89.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified