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 |
1013521000241113 | syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3326221019 | Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326222014 | Hypogonadism with mitral valve prolapse and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3326223016 | Cantalamessa Baldini Ambrosi syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3326224010 | Syndrome with the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. It has been described in two brothers. Growth hormone levels and the response to gonadotropin stimulation tests were also abnormal. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | est un(e) (attribut) | insuffisance staturale | true | Inferred relationship | Some | ||
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | est un(e) (attribut) | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | est un(e) (attribut) | Mitral valve prolapse (disorder) | true | Inferred relationship | Some | ||
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | localisation d'une constatation (attribut) | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | morphologie associée (attribut) | Prolapse | true | Inferred relationship | Some | 2 | |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | localisation d'une constatation (attribut) | valve mitrale (structure corporelle) | true | Inferred relationship | Some | 2 | |
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets