ISO_639-1 en false 2020-03-16 Silje Ljosland Bakke Helse Vest IKT AS silje.ljosland.bakke@helse-vest-ikt.no in_development 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/. openEHR Foundation org.openehr openEHR Foundation org.openehr FA49B7ED2418260198D18D3F69CEABD7 910a57d6-f968-4529-baa6-0c92301be861 0.0.1-alpha

ISO_639-1 de Zur Darstellung einer Bewertung des Vorkommens oder Nicht-Vorkommens einer bestimmten genetischen Variante in einer sequenzierten Probe. Verwenden Sie diesen Archetyp, um eine Bewertung des Vorkommens oder Nicht-Vorkommens einer bestimmten genetischen Variante in einer sequenzierten Probe darzustellen, z. B. für die Panel-Sequenzierung. Dieser Archetyp wurde für die Verwendung im SLOT "Testergebnis" des Archetyps OBSERVATION.laboratory_test_result entwickelt, kann aber auch in anderen ENTRY- oder CLUSTER-Archetypen verwendet werden, sofern dies klinisch angemessen ist.

ISO_639-1 en To record an assessment of the presence or absence of a specific genetic variant in a sequenced specimen. 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. © openEHR Foundation

ISO_639-1 de Natalia Strauch Medizinische Hochschule Hannover Strauch.Natalia@mh-hannover.de 2d7ac39c-147d-4672-bd08-b55372b9631e openEHR-EHR-CLUSTER.genetic_variant_presence.v0 1.4 at0000 CLUSTER true true false false 1 1 at0000 items true true false false 1 1 ELEMENT true true false false 0 1 at0001 value true true false false 0 1 DV_TEXT true true false false 1 1 ELEMENT true true false false 0 1 at0002 value true true false false 0 1 DV_CODED_TEXT true true false false 1 1 defining_code true true false false 1 1 CODE_PHRASE true true false false 1 1 local at0004 at0005 at0006 at0007 ELEMENT true true false false 0 1 at0003 value true true false false 0 1 DV_TEXT true true false false 1 1 false false true false true 1 Genetic variant presence Assessment of the presence or absence of a specific genetic variant in a sequenced specimen. Variant name The name of the variant. Finding The presence or absence of the variant. Comment Additional narrative about the genetic variant presence not captured in other elements. Present The target variant is present. Absent The target variant is absent. No call No data are available to confirm the presence/absence of the variant. Indeterminate The result is indeterminate. Genetic variant presence Bewertung des Vorkommens oder Nicht-Vorkommens einer bestimmten genetischen Variante in einer sequenzierten Probe. Variant name The name of the variant. Finding The presence or absence of the variant. Comment Additional narrative about the genetic variant presence not captured in other elements. Present The target variant is present. Absent The target variant is absent. No call No data are available to confirm the presence/absence of the variant. Indeterminate The result is indeterminate. LOINC(2.65) 69548-6 LOINC(2.65) LA9633-4 LOINC(2.65) LA9634-2 LOINC(2.65) LA18198-4 LOINC(2.65) LA11884-6