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 |
| 4650594010 | Autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4650596012 | Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4650597015 | Limb girdle muscular dystrophy 2X | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4650600019 | BVES-related limb girdle muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650601015 | Blood vessel epicardial substance related limb girdle muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4650602010 | BVES (blood vessel epicardial substance) related limb girdle muscular dystrophy | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13242061000146111 | 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242071000146117 | LGMD2X | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242081000146115 | autosomaal recessieve gordeldystrofie type 2X | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242091000146118 | 'limb-girdle muscular dystrophy' 2X | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242101000146113 | BVES-gerelateerde 'limb-girdle'-spierdystrofie | nl | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242111000146110 | 'blood vessel epicardial substance'-gerelateerde 'limb-girdle'-spierdystrofie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 13242121000146117 | autosomaal recessief syndroom van 'limb-girdle'-spierdystrofie en hartritmestoornis | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 4650595011 | A rare subtype of autosomal recessive limb girdle muscular dystrophy characterised by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibres. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4650599017 | A rare subtype of autosomal recessive limb girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei and presence of necrotic and regenerating fibers. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Is a | Chronic heart disease | true | Inferred relationship | Some | ||
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Is a | Autosomal recessive muscular dystrophy with limb girdle distribution | true | Inferred relationship | Some | ||
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Is a | Cardiac arrhythmia associated with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Clinical course | Progressive (qualifier value) | true | Inferred relationship | Some | 2 | |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 3 | |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Finding site | Skeletal muscle structure | true | Inferred relationship | Some | 1 | |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 1 | |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Blood vessel epicardial substance related limb girdle muscular dystrophy (disorder) | Finding site | Cardiac conducting system structure | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR