Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4672936010 | Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672937018 | Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4672938011 | A progressive muscular dystrophy with characteristics of co-existence of limb-girdle weakness and diffuse joint contractures without cardiomyopathy. Patients present lower limb weakness progressing to involve also upper limbs and axial muscles and eventually leading to permanent loss of ambulation, widespread joint contractures in the limbs and sometimes the spine and variable respiratory involvement. Morphological changes in muscle biopsies include rimmed vacuoles, increased internal nuclei, cytoplasmic bodies and a dystrophic pattern. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | est un(e) (attribut) | Hereditary progressive muscular dystrophy | true | Inferred relationship | Some | ||
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR