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 |
| 3321984017 | Corneal dystrophy and perceptive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321985016 | Corneal dystrophy with progressive deafness | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3321986015 | Harboyan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3322600012 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322601011 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5402458010 | Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402459019 | Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Hereditary corneal dystrophy | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Corneal endothelial dystrophy (disorder) | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Interprets | Functional observable | false | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Associated morphology | Dystrophy | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Structure of corneal endothelium | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 2 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital dystrophy of cornea (disorder) | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Is a | Congenital hereditary endothelial dystrophy (disorder) | true | Inferred relationship | Some | ||
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Associated morphology | Cellular AND/OR subcellular abnormality | true | Inferred relationship | Some | 1 | |
| Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR