| ARCHETYPE ID | openEHR-EHR-CLUSTER.genetic_variant_presence.v0 |
|---|---|
| Concept | Genetic variant presence |
| Description | Assessment of the presence or absence of a specific genetic variant in a sequenced specimen. |
| Use | Use to record an assessment of the presence or absence of a specific genetic variant in a sequenced specimen, for example for panel sequencing. This archetype has been designed to be used within the "Test result" SLOT of the OBSERVATION.laboratory_test_result archetype, but may also be used in other ENTRY or CLUSTER archetype where clinically appropriate. |
| Purpose | To record an assessment of the presence or absence of a specific genetic variant in a sequenced specimen. |
| References | |
| Copyright | © openEHR Foundation |
| Authors | Author name: Silje Ljosland Bakke Organisation: Helse Vest IKT AS Email: silje.ljosland.bakke@helse-vest-ikt.no Date originally authored: 2020-03-16 |
| Other Details Language | Author name: Silje Ljosland Bakke Organisation: Helse Vest IKT AS Email: silje.ljosland.bakke@helse-vest-ikt.no Date originally authored: 2020-03-16 |
| Other Details (Language Independent) |
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| Keywords | |
| Lifecycle | in_development |
| UID | 2d7ac39c-147d-4672-bd08-b55372b9631e |
| Language used | en |
| Citeable Identifier | 1246.145.1276 |
| Revision Number | 0.0.1-alpha |
| items | |
| Variant name | Variant name: The name of the variant. |
| Finding | Finding: The presence or absence of the variant.
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| Comment | Comment: Additional narrative about the genetic variant presence not captured in other elements. |
| Other contributors | |
| Translators |