Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4667394010 | GNB5-related intellectual disability, cardiac arrhythmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4673230016 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4673231017 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) | en | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399508017 | A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5399509013 | A rare genetic disease characterised by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastro-oesophageal reflux. The severity of the phenotype is highly variable. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Is a | Cardiac arrhythmia associated with genetic disorder (disorder) | true | Inferred relationship | Some | ||
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Finding site | Heart structure | false | Inferred relationship | Some | 1 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Finding site | Cardiac conducting system structure | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR