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 |
| 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 |
| 3916601000052110 | syndrom med hypogonadism, mitralklaffprolaps och intellektuell funktionsnedsättning | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Is a | mental retardation | false | Inferred relationship | Some | ||
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Is a | Primary hypogonadism (disorder) | true | Inferred relationship | Some | ||
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Is a | Mitral valve prolapse (disorder) | true | Inferred relationship | Some | ||
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Finding site | Gonadal endocrine structure | true | Inferred relationship | Some | 1 | |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Associated morphology | Prolapse (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Finding site | Mitral valve structure | true | Inferred relationship | Some | 2 | |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR