Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4635376013 | Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4635377016 | Prenatal-onset spinal muscular atrophy with congenital bone fractures | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4635378014 | A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4635379018 | A rare genetic motor neuron disease with characteristics of decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita) and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fibre-size variation and grouping of larger type I fibres. The disease is usually fatal in infancy due to respiratory failure. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Injury of nervous system | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Inherited arthrogryposis | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Motor neuron disease | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Congenital anomaly of skeletal bone | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Interprets | Range of joint movement | true | Inferred relationship | Some | 4 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Has interpretation | Decreased | true | Inferred relationship | Some | 4 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Finding site | Structure of joint region | true | Inferred relationship | Some | 1 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Associated morphology | Contracture | true | Inferred relationship | Some | 1 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Finding site | Structure of long bone | true | Inferred relationship | Some | 2 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Finding site | Structure of nervous system (body structure) | true | Inferred relationship | Some | 3 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Fracture of multiple bones (disorder) | true | Inferred relationship | Some | ||
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Associated morphology | Fracture of multiple bones (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder) | Is a | Arthrogryposis multiplex congenita | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR