Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5471598016 | Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471599012 | Autoinflammation with arthritis and dyskeratosis due to NLR family pyrin domain containing 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471600010 | Autoinflammation with arthritis and dyskeratosis due to NLR family pyrin domain containing 1 deficiency (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5471601014 | NLRP1-associated autoinflammation with arthritis and dyskeratosis | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Is a | Autosomal hereditary disorder | true | Inferred relationship | Some | ||
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Is a | Hereditary disorder of immune system | true | Inferred relationship | Some | ||
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Is a | Autoinflammatory disease (disorder) | true | Inferred relationship | Some | ||
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Finding site | Structure of immune system (body structure) | true | Inferred relationship | Some | 1 | |
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Associated morphology | Inflammatory morphology (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autoinflammation with arthritis and dyskeratosis due to NLRP1 deficiency | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR