Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3499544014 | Distal myopathy with posterior leg and anterior hand involvement (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499545010 | Distal myopathy with posterior leg and anterior hand involvement | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3499546011 | Distal ABD-filaminopathy | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3500014018 | A neuromuscular disease with characteristics of progressive symmetric muscle weakness of anterior upper and posterior lower limbs. It has been described in several members of an Australian and an Italian family. The disease usually manifests during the third decade of life with thenar muscle weakness resulting in reduced grip strength. The disease is slowly progressive and generally proceeds with calf muscle weakness appearing during the fourth decade and proximal muscles becoming perceptibly affected in the fifth decade. The disease is due to mutations on the actin-binding domain of the FLNC gene that encodes filamin C, a muscle specific filamin that is also associated with myofibrillar myopathy when mutations affect other parts of the protein. The disease mechanism seems to be linked to an increased actin-binding affinity of filamin C. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Finding site | Skeletal muscle structure | false | Inferred relationship | Some | 3 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Occurrence | Adulthood | true | Inferred relationship | Some | 1 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Distal myopathy with posterior leg and anterior hand involvement (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR