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 |
OtherDetails Language Independent | {licence=This work is licensed under the Creative Commons Attribution-ShareAlike 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/4.0/., custodian_organisation=openEHR Foundation, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=FA49B7ED2418260198D18D3F69CEABD7, build_uid=910a57d6-f968-4529-baa6-0c92301be861, revision=0.0.1-alpha} |
Keywords | |
Lifecycle | in_development |
UID | 2d7ac39c-147d-4672-bd08-b55372b9631e |
Language used | en |
Citeable Identifier | 1246.145.1276 |
Revision Number | 0.0.1-alpha |
All | Archetype [runtimeNameConstraintForConceptName=null, archetypeConceptBinding=null, archetypeConceptDescription=Assessment of the presence or absence of a specific genetic variant in a sequenced specimen., archetypeConceptComment=null, otherContributors=, originalLanguage=en, translators= , subjectOfData=unconstrained, archetypeTranslationTree=null, topLevelToAshis={relationships=[], source=[], capabilities=[], activities=[], details=[], context=[], ism_transition=[], other_participations=[], data=[], credentials=[], target=[], items=[ResourceSimplifiedHierarchyItem [path=/items[at0001], code=at0001, itemType=ELEMENT, level=1, text=Variant name, description=The name of the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_TEXT, bindings=null, values=, extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0002], code=at0002, itemType=ELEMENT, level=1, text=Finding, description=The presence or absence of the variant., comment=null, uncommonOntologyItems=null, occurencesFormal=0..1, occurencesText=Optional, cardinalityFormal=null, cardinalityText=null, subCardinalityFormal=null, subCardinalityText=null, dataType=DV_CODED_TEXT, bindings=[LOINC(2.
|