Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099579014 | Elastin microfibril interfacer 1 related connective tissue disease | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099580012 | EMILIN-1-related connective tissue disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5099581011 | Elastin microfibril interfacer 1 related connective tissue disease (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5099582016 | A rare hereditary disease with peripheral neuropathy with characteristics of distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility and recurrent tendon ruptures. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5757141000052113 | EMILIN-1-relaterad bindvävssjukdom | sv | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| EMILIN-1-related connective tissue disease | Is a | Peripheral nerve disease | true | Inferred relationship | Some | ||
| EMILIN-1-related connective tissue disease | Is a | Connective tissue hereditary disorder (disorder) | true | Inferred relationship | Some | ||
| EMILIN-1-related connective tissue disease | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| EMILIN-1-related connective tissue disease | Finding site | Connective tissue structure | true | Inferred relationship | Some | 1 | |
| EMILIN-1-related connective tissue disease | Finding site | Peripheral nerve structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR