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 |
3331751018 | Congenital cataract with deafness and hypogonadism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331752013 | Congenital cataract with deafness and hypogonadism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3331753015 | Schaap Taylor Baraitser syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3331754014 | An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. | 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 deafness and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 1 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 1 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 1 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | a pour interprétation (attribut) | altéré | true | Inferred relationship | Some | 4 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | hypogonadisme | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Sensorineural hearing loss | false | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Congenital hearing disorder | false | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | structure du système auditif | true | Inferred relationship | Some | 3 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | interprète (attribut) | entité observable fonctionnelle | false | Inferred relationship | Some | ||
Congenital cataract with deafness and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | 5 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | morphologie associée (attribut) | Congenital cataract | false | Inferred relationship | Some | 6 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 6 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | localisation d'une constatation (attribut) | cristallin | false | Inferred relationship | Some | 6 | |
Congenital cataract with deafness and hypogonadism syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets