Familial cold autoinflammatory syndrome 1

Definition

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene.

Also known as familial cold autoinflammatory syndrome 1, familial cold autoinflammatory syndrome caused by mutation in NLRP3, familial cold autoinflammatory syndrome type 1, familial cold inflammatory syndrome 1, NLRP3 familial cold autoinflammatory syndrome — per MONDO

Also identified as

• DOID 0090062 per MONDO
• OMIM 120100 per MONDO
• SCTID 238687000 per MONDO
• UMLS C4551895 per MONDO