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 |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5319801000052115 | syndrom med GNB5-relaterad intellektuell funktionsnedsättning och hjärtarytmi | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 | true | Inferred relationship | Some | 1 | |
| GNB5-related intellectual disability, cardiac arrhythmia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR