Status: current, Primitive. 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 | Active | Case sensitive | SNOMED CT core |
| 4673230016 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 4673231017 | G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) | en | Fully specified name | Active | Case sensitive | SNOMED CT core |
| 4667397015 | 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 gastro-esophageal reflux. The severity of the phenotype is highly variable. | en | Definition | Active | Case sensitive | SNOMED CT core |
| 4667398013 | 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 | Case sensitive | 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 | 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 | Structure of heart | true | Inferred relationship | Some | 1 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Interprets | Intellectual ability | 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 behaviour | true | Inferred relationship | Some | 4 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR