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 |
| 6741801000146112 | syndroom van Schaap-Taylor-Baraitser | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6936021000146112 | syndroom van congenitaal cataract, doofheid en hypogonadisme (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6936031000146114 | syndroom van congenitaal cataract, doofheid en hypogonadisme | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Sensorineural hearing loss | false | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Congenital cataract | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Finding site | Structure of auditory system (body structure) | true | Inferred relationship | Some | 3 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 4 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Interprets | observatie betreffende functioneren | false | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | 5 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Associated morphology | congenitaal cataract | false | Inferred relationship | Some | 6 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Finding site | Lens clear | false | Inferred relationship | Some | 6 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | 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) | Finding site | Lens clear | 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) | Associated morphology | cataract | false | Inferred relationship | Some | 1 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Associated morphology | Opacity | true | Inferred relationship | Some | 1 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | Congenital hearing loss (disorder) | false | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Female congenital cataract with deafness and hypogonadism syndrome | Is a | True | Congenital cataract with deafness and hypogonadism syndrome (disorder) | Inferred relationship | Some | |
| Male congenital cataract with deafness and hypogonadism syndrome (disorder) | Is a | True | Congenital cataract with deafness and hypogonadism syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR