Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3637758012 | Autosomal dominant congenital benign spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637759016 | Autosomal dominant congenital benign spinal muscular atrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637760014 | Autosomal dominant benign distal spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637761013 | Congenital benign spinal muscular atrophy with contracture | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3637762018 | Congenital nonprogressive spinal muscular atrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5403929014 | A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5403930016 | A rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterised by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordosis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfunction are usually also associated. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal dominant congenital benign spinal muscular atrophy | Is a | Autosomal dominant hereditary disorder | false | Inferred relationship | Some | ||
| Autosomal dominant congenital benign spinal muscular atrophy | Is a | Congenital disease (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant congenital benign spinal muscular atrophy | Is a | Distal spinal muscular atrophy | true | Inferred relationship | Some | ||
| Autosomal dominant congenital benign spinal muscular atrophy | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital benign spinal muscular atrophy | Finding site | Structure of nervous system (body structure) | false | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital benign spinal muscular atrophy | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 1 | |
| Autosomal dominant congenital benign spinal muscular atrophy | Finding site | Nerve structure | true | Inferred relationship | Some | 2 | |
| Autosomal dominant congenital benign spinal muscular atrophy | Is a | Autosomal dominant distal hereditary motor neuropathy (disorder) | true | Inferred relationship | Some | ||
| Autosomal dominant congenital benign spinal muscular atrophy | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR