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 |
| 1014611000172110 | LGMD2L - limb-girdle muscular dystrophy type 2L | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3450999012 | Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3451000011 | Autosomal recessive limb girdle muscular dystrophy type 2L | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 762181000241114 | dystrophie musculaire des ceintures autosomique récessive type 2L (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 948081000172115 | dystrophie musculaire des ceintures autosomique récessive type 2L | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3451001010 | A form of limb-girdle muscular dystrophy most often with characteristics of an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | est un(e) (attribut) | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR