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Coagulation factor XII-associated cold autoinflammatory syndrome (disorder)
F12-associated cold autoinflammatory syndrome
Coagulation factor XII-associated cold autoinflammatory syndrome
FACAS - F12-associated cold autoinflammatory syndrome
A rare genetic autoinflammatory syndrome with skin involvement characterized by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.
Id1348303000
StatusPrimitive
Clinical courserecidiverend
Has interpretationboven referentiebereik
Interpretslichaamstemperatuur
Associated morphologyinflammatoire morfologie
Finding sitestructuur van immuunsysteem
Pathological processafwijkend immuunproces
Associated morphologyurticaria
Causative agentlage temperatuur
Finding sitestructuur van huid
SNOMED CT to ICD-10 extended map
TargetL50.2
RuleTRUE
AdviceALWAYS L50.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified