Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5067142019 | Atypical long QT syndrome type 8 | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5067143012 | Atypical Timothy syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5067144018 | Atypical Timothy syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5067147013 | Timothy syndrome atypical type | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5067145017 | A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognized by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5067146016 | A rare multiple congenital anomalies syndrome with cardiac involvement as a major feature with characteristics of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism and neurodevelopmental features. The atypical form (ATS) causes multi-system health concerns but not necessarily with prolonged QT. The disease can be recognised by any CACNA1C change (excluding the G406R change) that causes multi-system health concerns. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 13724351000172117 | atypisch LQTS type 8 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13724361000172115 | atypisch lang-QT-syndroom type 8 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13724371000172112 | atypisch Timothy-syndroom | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 13724381000172110 | atypisch lang-QT-intervalsyndroom type 8 | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Atypical Timothy syndrome (disorder) | Is a | Timothy syndrome (disorder) | true | Inferred relationship | Some | ||
| Atypical Timothy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Atypical Timothy syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Atypical Timothy syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Atypical Timothy syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Atypical Timothy syndrome (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR