Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
| 5099580012 | EMILIN-1-related connective tissue disease | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5099581011 | Elastin microfibril interfacer 1 related connective tissue disease (disorder) | en | Fully specified name | Active | Case insensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| EMILIN-1-related connective tissue disease | Is a | Peripheral neuropathy | true | Inferred relationship | Some | ||
| EMILIN-1-related connective tissue disease | Is a | Inherited disorder of connective tissue | 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 |
Reference Sets
Clinical finding foundation reference set
Australian dialect reference set
Problem/Diagnosis reference set
FHIR