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 |
| 3655420017 | Disease with characteristics of early-onset selective weakness of the great toe and ankle dorsiflexors and a very slowly progressive course. Age at onset varies from 4 to 5 years to the early twenties. Early weakness of neck flexion is present in all patients. Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease. Caused by mutation of the MYH7 gene (14q11) and transmitted as an autosomal dominant trait. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404398010 | Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5404399019 | Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterised by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655416016 | Distal myopathy type 1 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3655417013 | Laing early-onset distal myopathy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655418015 | Gowers disease | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3655419011 | Laing early-onset distal myopathy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Is a | Distal muscular dystrophy | true | Inferred relationship | Some | ||
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Associated morphology | dysgenese | false | Inferred relationship | Some | 2 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Occurrence | Congenital | false | Inferred relationship | Some | 2 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 2 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 2 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Occurrence | Congenital | false | Inferred relationship | Some | 1 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Occurrence | Childhood | true | Inferred relationship | Some | 1 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. | Clinical course | Progressive | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR