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 |
3326225011 | Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326226012 | Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326227015 | Salti Salem syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3326228013 | Syndrome with the association of hypogonadotropic hypogonadism and frontoparietal alopecia. It has been described in six members (four males and two females) of a consanguineous Lebanese family. In addition to frontoparietal alopecia, the remaining scalp hair was also sparse and axillary and pubic hair was absent. Despite the family history of consanguinity, autosomal dominant inheritance with reduced penetrance was considered as the most likely mode of transmission. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3923751000052119 | syndrom med hypogonadotrop hypogonadism och frontoparietal alopeci | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Hypogonadotropic hypogonadism | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Alopecia | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Finding site | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 4 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | Is a | Congenital alopecia | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets