Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3643803019 | KLHL9-related early-onset distal myopathy | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3643807018 | Kelch like family member 9 related early-onset distal myopathy (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3643808011 | Kelch like family member 9 related early-onset distal myopathy | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3643806010 | A rare genetic distal myopathy with characteristics of slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Kelch like family member 9 related early-onset distal myopathy | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Kelch like family member 9 related early-onset distal myopathy | Clinical course | Progressive | true | Inferred relationship | Some | 3 | |
| Kelch like family member 9 related early-onset distal myopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Kelch like family member 9 related early-onset distal myopathy | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| Kelch like family member 9 related early-onset distal myopathy | Associated morphology | Developmental abnormality | false | Inferred relationship | Some | 2 | |
| Kelch like family member 9 related early-onset distal myopathy | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Kelch like family member 9 related early-onset distal myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Kelch like family member 9 related early-onset distal myopathy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Kelch like family member 9 related early-onset distal myopathy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Kelch like family member 9 related early-onset distal myopathy | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Kelch like family member 9 related early-onset distal myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Kelch like family member 9 related early-onset distal myopathy | Occurrence | Childhood | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set
FHIR