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 |
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 | Entire term case sensitive (core metadata concept) | 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 | 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) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Congenital dystrophy of cornea (disorder) | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Congenital hereditary endothelial dystrophy (disorder) | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | a pour interprétation (attribut) | altéré | 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) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | localisation d'une constatation (attribut) | Chromosome pair 20 (cell structure) | true | Inferred relationship | Some | 1 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | morphologie associée (attribut) | 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 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Hereditary corneal dystrophy | false | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | est un(e) (attribut) | Corneal endothelial dystrophy (disorder) | false | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | morphologie associée (attribut) | Dystrophy (morphologic abnormality) | true | Inferred relationship | Some | 4 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) | localisation d'une constatation (attribut) | Structure of corneal endothelium | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets