Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3467549016 | Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3467550016 | Autosomal recessive limb girdle muscular dystrophy type 2R | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3467551017 | Autosomal recessive limb girdle muscular dystrophy due to desmin deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 762671000241118 | dystrophie musculaire des ceintures autosomique récessive type 2R (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 994481000172111 | dystrophie musculaire des ceintures autosomique récessive type 2R | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 997971000172111 | dystrophie musculaire des ceintures autosomique récessive par déficit en desmine | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3467552012 | A form of limb-girdle muscular dystrophy with characteristics of adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block and a sinus rhythm with very rare ventricular extrasystoles have also been reported. There is evidence this may be caused by homozygous mutation in the DES gene on chromosome 2q35. | 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 2R (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) | évolution clinique (attribut) | progressif | false | Inferred relationship | Some | 2 | |
| Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) | est un(e) (attribut) | Autosomal recessive muscular dystrophy with limb girdle distribution | false | Inferred relationship | Some | ||
| Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Autosomal recessive limb girdle muscular dystrophy type 2R (disorder) | localisation d'une constatation (attribut) | structure de muscle squelettique | false | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR