Status: current, Primitive. 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 | Case insensitive | SNOMED CT core |
3326226012 | Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
3326227015 | Salti Salem syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Congenital alopecia | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Hypogonadotropic hypogonadism | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Alopecia | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Structure of distal part of pituitary | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Associated morphology | Absence | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Hair structure | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Is a | Congenital hypogonadotropic hypogonadism | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Associated morphology | Absence | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Hair structure | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set