Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4650610011 | LIMS2-related limb girdle muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4650611010 | Autosomal recessive limb girdle muscular dystrophy type 2W | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4650612015 | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4650613013 | Limb girdle muscular dystrophy type 2W | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
4650614019 | LIM zinc finger domain containing 2-related limb girdle muscular dystrophy (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4650615018 | A subtype of autosomal recessive limb girdle muscular dystrophy with characteristics of childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadriparesis, calf hypertrophy, triangular tongue and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
LIMS2-related limb girdle muscular dystrophy | est un(e) (attribut) | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
LIMS2-related limb girdle muscular dystrophy | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 2 | |
LIMS2-related limb girdle muscular dystrophy | survenue (attribut) | enfance | true | Inferred relationship | Some | 1 | |
LIMS2-related limb girdle muscular dystrophy | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 1 | |
LIMS2-related limb girdle muscular dystrophy | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
LIMS2-related limb girdle muscular dystrophy | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets