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 |
| 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 | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402704019 | This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402705018 | This syndrome is characterised by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Is a | mental retardering | false | Inferred relationship | Some | ||
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Is a | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Is a | Mitral valve prolapse (disorder) | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Associated morphology | Prolapse | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Finding site | Mitral valve structure | true | Inferred relationship | Some | 2 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Interprets | Intellectual ability | true | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR