ARCHETYPE Genetic variant presence (openEHR-EHR-CLUSTER.genetic_variant_presence.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.genetic_variant_presence.v0
ConceptGenetic variant presence
DescriptionAssessment of the presence or absence of a specific genetic variant in a sequenced specimen.
UseUse 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.
PurposeTo record an assessment of the presence or absence of a specific genetic variant in a sequenced specimen.
References
Copyright© openEHR Foundation
AuthorsAuthor 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 LanguageAuthor 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
Lifecyclein_development
UID2d7ac39c-147d-4672-bd08-b55372b9631e
Language useden
Citeable Identifier1013.1.4446
Revision Number0.0.1-alpha
AllArchetype [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=
  • German: Natalia Strauch, Medizinische Hochschule Hannover, Strauch.Natalia@mh-hannover.de

    • , subjectOfData=unconstrained, archetypeTranslationTree=null, topLevelToAshis={identities=[], other_participations=[], events=[], details=[], provider=[], 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(2.65)::69548-6 | Genetic variant assessment], values=
    • Present [The target variant is present.]
      [LOINC(2.65)::LA9633-4]
    • Absent [The target variant is absent.]
      [LOINC(2.65)::LA9634-2]
    • No call [No data are available to confirm the presence/absence of the variant.]
      [LOINC(2.65)::LA18198-4]
    • Indeterminate [The result is indeterminate.]
      [LOINC(2.65)::LA11884-6]
    , extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=Comment, description=Additional narrative about the genetic variant presence not captured in other elements., 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]], description=[], protocol=[], ism_transition=[], context=[], data=[], activities=[], relationships=[], credentials=[], target=[], source=[], state=[], content=[], contacts=[], capabilities=[]}, topLevelItems={items=ResourceSimplifiedHierarchyItem [path=ROOT_/, code=at0000, itemType=CLUSTER, level=0, text=null, description=null, comment=null, uncommonOntologyItems=null, occurencesFormal=1..1, occurencesText=Mandatory, cardinalityFormal=1..*, cardinalityText=, subCardinalityFormal=null, subCardinalityText=null, dataType=CLUSTER, bindings=null, values=null, extendedValues=null]}, addHierarchyItemsTo=items, currentHierarchyItemsForAdding=[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(2.65)::69548-6 | Genetic variant assessment], values=
    • Present [The target variant is present.]
      [LOINC(2.65)::LA9633-4]
    • Absent [The target variant is absent.]
      [LOINC(2.65)::LA9634-2]
    • No call [No data are available to confirm the presence/absence of the variant.]
      [LOINC(2.65)::LA18198-4]
    • Indeterminate [The result is indeterminate.]
      [LOINC(2.65)::LA11884-6]
    , extendedValues=null], ResourceSimplifiedHierarchyItem [path=/items[at0003], code=at0003, itemType=ELEMENT, level=1, text=Comment, description=Additional narrative about the genetic variant presence not captured in other elements., 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]], minIndents={}, termBindingRetrievalErrorMessage=null]