Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4965392013 | Stark Kaeser syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4965393015 | Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4965394014 | Kaeser syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4965395010 | Neurogenic scapuloperoneal syndrome Kaeser type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5399850012 | A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5399851011 | A rare, genetic, neuromuscular disease characterised by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Disorder of shoulder region (disorder) | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Disorder of lower leg (disorder) | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Myoneural disorder | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Disorder of soft tissue of lower limb | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Hereditary motor neuron disease | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Is a | Muscle atrophy | true | Inferred relationship | Some | ||
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Finding site | Peripheral nervous system structure | true | Inferred relationship | Some | 3 | |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Finding site | Structure of skeletal muscle of shoulder (body structure) | true | Inferred relationship | Some | 1 | |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Associated morphology | Atrophy | true | Inferred relationship | Some | 1 | |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Finding site | Peroneal muscle structure | true | Inferred relationship | Some | 2 | |
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) | Associated morphology | Atrophy | 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)