Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3724303010 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724304016 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3724305015 | A rare X-linked syndromic intellectual disability disorder with characteristics of profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with over folded helix) and large testes. There is evidence the disease is caused by mutation in the CLIC2 gene on chromosome Xq28. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | Cardiac arrhythmia associated with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | Finding site | Cardiac conducting system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
FHIR