Status: current, Primitive. 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 | Case sensitive | SNOMED CT core |
| 3724304016 | X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | en | Synonym | Active | Case sensitive | 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 | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | Cardiac arrhythmia associated with genetic disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 1 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 4 | |
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
Description inactivation indicator reference set
REPLACED BY association reference set
FHIR