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 |
| 771661000241110 | syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 951111000172115 | syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | est un(e) (attribut) | Cardiac arrhythmia associated with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | est un(e) (attribut) | X-linked hereditary disease | false | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | 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) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) | est un(e) (attribut) | X-linked recessive hereditary disease | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Canada English language reference set (foundation metadata concept)
FHIR