Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3332182011 | Gingival fibromatosis with progressive deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332183018 | Gingival fibromatosis with progressive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3332184012 | Jones syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402936016 | A rare syndrome characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402937013 | A rare syndrome characterised by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Is a | Hereditary gingival fibromatosis | true | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Associated morphology | Fibromatosis | true | Inferred relationship | Some | 4 | |
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Finding site | Gingival structure | true | Inferred relationship | Some | 4 | |
| Gingival fibromatosis with progressive deafness syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR