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 |
| 3717158014 | Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717159018 | Autosomal dominant childhood-onset proximal spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717160011 | Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3717161010 | SMALED - spinal muscular atrophy, lower extremity, dominant | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3717162015 | Spinal muscular atrophy with lower extremity predominance | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3716698015 | Disease with characteristics of muscle weakness and atrophy in the lower limbs, most severely affecting the quadriceps. The loss of motor neurons leads to atrophy of the muscles in the lower limbs with manifestations including unsteady walk and walking on the balls of the feet. Some also have weakness in upper limb muscles. Contractures of the hips, knees, feet, and ankles may occur and in severe cases may be present from birth. Muscle problems are apparent in infancy or early childhood however about one-quarter of affected individuals do not develop muscle weakness until adulthood. Caused by mutations in the DYNC1H1 gene or BICD2 gene. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405164019 | A rare genetic neuromuscular disease characterized by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405165018 | A rare genetic neuromuscular disease characterised by early onset muscular weakness with predominant proximal lower limb involvement. The disorder is static or only mildly progressive. The severity of manifestations ranges from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | Is a | Spinal muscular atrophy | true | Inferred relationship | Some | ||
| Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 1 | |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR