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 |
| 1013231000172119 | myopathie distale précoce type Laing | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| 767281000241117 | myopathie distale précoce type Laing (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 981601000172117 | MPD1 - myopathie distale type 1 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR