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 |
| 1000871000172111 | dystrophie musculaire des ceintures autosomique récessive type 2Y | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3446315013 | Autosomal recessive limb girdle muscular dystrophy type 2Y (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3446316014 | Autosomal recessive limb girdle muscular dystrophy type 2Y | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3446317017 | Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein 1B) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3446318010 | Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3446319019 | Muscular dystrophy with progressive weakness, distal contracture and rigid spine | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 761821000241111 | dystrophie musculaire des ceintures autosomique récessive type 2Y (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 998411000172112 | dystrophie musculaire des ceintures autosomique récessive avec une atrophie musculaire distale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3446320013 | A form of limb-girdle muscular dystrophy presenting in the first or second decades of life with characteristics of slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function and mild cardiomyopathy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| dystrophie musculaire des ceintures autosomique récessive type 2Y | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire des ceintures autosomique récessive type 2Y | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| dystrophie musculaire des ceintures autosomique récessive type 2Y | est un(e) (attribut) | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| dystrophie musculaire des ceintures autosomique récessive type 2Y | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| dystrophie musculaire des ceintures autosomique récessive type 2Y | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR