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 |
| 3313157011 | Deafness and hypogonadism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3313305019 | Deafness and hypogonadism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6122891000146117 | doofheid-hypogonadisme-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6675211000146116 | syndroom van 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) |
| 6675221000146114 | syndroom van 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) |
| 3313309013 | This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behavior. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3313310015 | This syndrome is characterised by the association of congenital mixed hearing loss with perilymphatic gusher, hypogonadism and abnormal behaviour. It has been described in five related males. Inheritance appears to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus), was detected in one of the patients leading to the suggestion that deafness hypogonadism is a contiguous gene deletion syndrome. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Deafness and hypogonadism syndrome (disorder) | Is a | Hypogonadism | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Finding site | Ear structure | false | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Deafness and hypogonadism syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Deafness and hypogonadism syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| Deafness and hypogonadism syndrome (disorder) | Finding site | Ear structure | true | Inferred relationship | Some | 2 | |
| Deafness and hypogonadism syndrome (disorder) | Is a | Congenital hearing disorder | false | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Disorder of ear | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Interprets | Hearing | true | Inferred relationship | Some | 3 | |
| Deafness and hypogonadism syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Deafness and hypogonadism syndrome (disorder) | Is a | Congenital hearing loss (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Female deafness and hypogonadism syndrome | Is a | True | Deafness and hypogonadism syndrome (disorder) | Inferred relationship | Some | |
| Male deafness and hypogonadism syndrome | Is a | True | Deafness and hypogonadism syndrome (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR