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 |
1006851000172118 | syndrome de Salti-Salem | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
757681000241112 | syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
916941000172116 | syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
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 |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Congenital alopecia | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | hypogonadisme hypogonadotrope (trouble) | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | alopécie (trouble) | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Reproductive system hereditary disorder | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | false | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | est un(e) (attribut) | Congenital hypogonadotropic hypogonadism (disorder) | true | Inferred relationship | Some | ||
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | morphologie associée (attribut) | Absence (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 2 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 4 | |
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) | localisation d'une constatation (attribut) | Structure of pars distalis of pituitary (body structure) | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets