Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5400821014 | A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5400822019 | A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars, and generalised joint hypermobility. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302210017 | Ehlers-Danlos syndrome classic type (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302211018 | Ehlers-Danlos syndrome classic type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3302212013 | Ehlers-Danlos syndrome classical type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5255462018 | Classical Ehlers-Danlos syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Is a | Ehlers-Danlos syndrome (disorder) | true | Inferred relationship | Some | ||
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Finding site | Bone structure | true | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Associated morphology | kongenit dysplasi | false | Inferred relationship | Some | 3 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Finding site | Skin structure | false | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Finding site | Bone structure | false | Inferred relationship | Some | 3 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Is a | Connective tissue hereditary disorder | false | Inferred relationship | Some | ||
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Is a | Hereditary disorder of musculoskeletal system | false | Inferred relationship | Some | ||
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 1 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Associated morphology | Dysplasia | true | Inferred relationship | Some | 2 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Finding site | Connective tissue structure | true | Inferred relationship | Some | 3 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 3 | |
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Ehlers-Danlos' syndrom, type 2 | Is a | False | A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Inferred relationship | Some | |
Ehlers-Danlos' syndrom, type 1 | Is a | False | A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Inferred relationship | Some | |
A rare inherited connective tissue disorder characterised by skin hyperextensibility, widened atrophic scars and generalised joint hypermobility. The disease is caused by heterozygous mutation in the collagen alpha-2(V) gene (COL5A2) on chromosome 2q31. | Is a | True | A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. | Inferred relationship | Some |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)