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 |
3314990018 | Congenital cataract with ataxia and deafness syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314991019 | Congenital cataract with ataxia and deafness syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3314992014 | This syndrome has characteristics of mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Congenital cataract with ataxia and deafness syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 1 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 2 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Chronic mental disorder | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | trouble neurologique chronique | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 4 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 5 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Ataxia | false | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | localisation d'une constatation (attribut) | oreille | false | Inferred relationship | Some | 2 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 3 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 4 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 4 | |
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
Congenital cataract with ataxia and deafness syndrome (disorder) | est un(e) (attribut) | Hereditary ataxia (disorder) | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets