Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2026. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 6156323014 | Early-onset autoinflammatory syndrome associated with TNFAIP3 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156324015 | HA20 (A20 haploinsufficiency) related monogenic Behcet-like disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156325019 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156326018 | Early-onset autoinflammatory disorder due to HA20 (A20 haploinsufficiency) | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156327010 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 6156328017 | A rare autoinflammatory syndrome characterised 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6156329013 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Is a | Recurrent disease | true | Inferred relationship | Some | ||
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Clinical course | Recurrent | true | Inferred relationship | Some | 2 | |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Due to | Haploinsufficiency of A20 | true | Inferred relationship | Some | 3 | |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | Is a | Haploinsufficiency of A20 | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR