Status: current, Primitive. 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 | Active | Case insensitive | SNOMED CT core |
3321985016 | Corneal dystrophy with progressive deafness | en | Synonym | Active | Case insensitive | SNOMED CT core |
3321986015 | Harboyan syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
3322600012 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
3322601011 | Congenital hereditary endothelial dystrophy and perceptive deafness syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3320415012 | A degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. | en | Definition | Active | Case sensitive | SNOMED CT core |
3321968018 | A degenerative corneal disorder characterised by the association of congenital hereditary endothelial dystrophy with progressive postlingual sensorineural hearing loss. The ocular manifestations include diffuse bilateral corneal oedema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. Caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13p12. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Corneal dystrophy and perceptive deafness syndrome | Finding site | Structure of auditory system | true | Inferred relationship | Some | 2 | |
Corneal dystrophy and perceptive deafness syndrome | Is a | Congenital corneal dystrophy | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Congenital hereditary endothelial dystrophy | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Corneal dystrophy and perceptive deafness syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Corneal dystrophy and perceptive deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Corneal dystrophy and perceptive deafness syndrome | Finding site | Chromosome pair 20 | true | Inferred relationship | Some | 1 | |
Corneal dystrophy and perceptive deafness syndrome | Associated morphology | Cellular AND/OR subcellular abnormality | true | Inferred relationship | Some | 1 | |
Corneal dystrophy and perceptive deafness syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Corneal dystrophy and perceptive deafness syndrome | Is a | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Hereditary corneal dystrophy | false | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Is a | Corneal endothelial dystrophy | false | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Finding site | Ear structure | false | Inferred relationship | Some | 2 | |
Corneal dystrophy and perceptive deafness syndrome | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
Corneal dystrophy and perceptive deafness syndrome | Interprets | Functional observable | false | Inferred relationship | Some | ||
Corneal dystrophy and perceptive deafness syndrome | Associated morphology | Dystrophy | true | Inferred relationship | Some | 4 | |
Corneal dystrophy and perceptive deafness syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Corneal dystrophy and perceptive deafness syndrome | Finding site | Structure of corneal endothelium | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set