Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3702269016 | SMARD2 - spinal muscular atrophy with respiratory distress type 2 | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3702270015 | Spinal muscular atrophy with respiratory distress type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702271016 | Diaphragmatic spinal muscular atrophy type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702272011 | Severe infantile axonal neuropathy with respiratory failure type 2 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702273018 | Spinal muscular atrophy with respiratory distress type 2 (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3702275013 | X-linked spinal muscular atrophy with respiratory distress | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404903016 | Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404904010 | Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterised by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Spinal muscular atrophy with respiratory distress type 2 | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 2 | |
| Spinal muscular atrophy with respiratory distress type 2 | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Spinal muscular atrophy with respiratory distress type 2 | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| Spinal muscular atrophy with respiratory distress type 2 | Finding site | Structure of respiratory system (body structure) | true | Inferred relationship | Some | 1 | |
| Spinal muscular atrophy with respiratory distress type 2 | Is a | Respiratory failure (disorder) | false | Inferred relationship | Some | ||
| Spinal muscular atrophy with respiratory distress type 2 | Is a | X-linked distal hereditary motor neuropathy | true | Inferred relationship | Some | ||
| Spinal muscular atrophy with respiratory distress type 2 | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 2 | |
| Spinal muscular atrophy with respiratory distress type 2 | Finding site | Nerve structure | true | Inferred relationship | Some | 3 | |
| Spinal muscular atrophy with respiratory distress type 2 | Is a | Chronic respiratory failure | true | Inferred relationship | Some | ||
| Spinal muscular atrophy with respiratory distress type 2 | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR