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 |
| 3643803019 | KLHL9-related early-onset distal myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3643807018 | Kelch like family member 9 related early-onset distal myopathy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643808011 | Kelch like family member 9 related early-onset distal myopathy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| KLHL9-related early-onset distal myopathy | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| KLHL9-related early-onset distal myopathy | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| KLHL9-related early-onset distal myopathy | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| KLHL9-related early-onset distal myopathy | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| KLHL9-related early-onset distal myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| KLHL9-related early-onset distal myopathy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| KLHL9-related early-onset distal myopathy | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| KLHL9-related early-onset distal myopathy | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| KLHL9-related early-onset distal myopathy | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| KLHL9-related early-onset distal myopathy | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| KLHL9-related early-onset distal myopathy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| KLHL9-related early-onset distal myopathy | 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