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 |
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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402706017 | This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5402707014 | This syndrome is characterised by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Hypogonadotropic hypogonadism | false | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Alopecia | false | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Structure of distal part of pituitary | false | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Gonadal endocrine structure | false | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Associated morphology | Absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Associated morphology | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Finding site | Structure of distal part of pituitary | true | Inferred relationship | Some | 4 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. | Is a | Congenital alopecia | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)