archetype (adl_version=1.4; uid=2d7ac39c-147d-4672-bd08-b55372b9631e)
	openEHR-EHR-CLUSTER.genetic_variant_presence.v0

concept
	[at0000]	-- Genetic variant presence
language
	original_language = <[ISO_639-1::en]>
	translations = <
		["de"] = <
			language = <[ISO_639-1::de]>
			author = <
				["name"] = <"Natalia Strauch">
				["organisation"] = <"Medizinische Hochschule Hannover">
				["email"] = <"Strauch.Natalia@mh-hannover.de">
			>
		>
	>
description
	original_author = <
		["name"] = <"Silje Ljosland Bakke">
		["organisation"] = <"Helse Vest IKT AS">
		["email"] = <"silje.ljosland.bakke@helse-vest-ikt.no">
		["date"] = <"2020-03-16">
	>
	details = <
		["de"] = <
			language = <[ISO_639-1::de]>
			purpose = <"Zur Darstellung einer Bewertung des Vorkommens oder Nicht-Vorkommens einer bestimmten genetischen Variante in einer sequenzierten Probe.">
			use = <"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.">
			misuse = <"">
		>
		["en"] = <
			language = <[ISO_639-1::en]>
			purpose = <"To record an 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.">
			misuse = <"">
			copyright = <"© openEHR Foundation">
		>
	>
	lifecycle_state = <"in_development">
	other_contributors = <>
	other_details = <
		["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">
	>

definition
	CLUSTER[at0000] matches {    -- Genetic variant presence
		items cardinality matches {1..*; unordered} matches {
			ELEMENT[at0001] occurrences matches {0..1} matches {    -- Variant name
				value matches {
					DV_TEXT matches {*}
				}
			}
			ELEMENT[at0002] occurrences matches {0..1} matches {    -- Finding
				value matches {
					DV_CODED_TEXT matches {
						defining_code matches {
							[local::
							at0004,    -- Present
							at0005,    -- Absent
							at0006,    -- No call
							at0007]    -- Indeterminate
						}
					}
				}
			}
			
			ELEMENT[at0003] occurrences matches {0..1} matches {    -- Comment
				value matches {
					DV_TEXT matches {*}
				}
			}
		}
	}


ontology
	term_definitions = <
		["en"] = <
			items = <
				["at0000"] = <
					text = <"Genetic variant presence">
					description = <"Assessment of the presence or absence of a specific genetic variant in a sequenced specimen.">
				>
				["at0001"] = <
					text = <"Variant name">
					description = <"The name of the variant.">
				>
				["at0002"] = <
					text = <"Finding">
					description = <"The presence or absence of the variant.">
				>
				["at0003"] = <
					text = <"Comment">
					description = <"Additional narrative about the genetic variant presence not captured in other elements.">
				>
				["at0004"] = <
					text = <"Present">
					description = <"The target variant is present.">
				>
				["at0005"] = <
					text = <"Absent">
					description = <"The target variant is absent.">
				>
				["at0006"] = <
					text = <"No call">
					description = <"No data are available to confirm the presence/absence of the variant.">
				>
				["at0007"] = <
					text = <"Indeterminate">
					description = <"The result is indeterminate.">
				>
			>
		>
		["de"] = <
			items = <
				["at0000"] = <
					text = <"Genetic variant presence">
					description = <"Bewertung des Vorkommens oder Nicht-Vorkommens einer bestimmten genetischen Variante in einer sequenzierten Probe.">
				>
				["at0001"] = <
					text = <"Variant name">
					description = <"The name of the variant.">
				>
				["at0002"] = <
					text = <"Finding">
					description = <"The presence or absence of the variant.">
				>
				["at0003"] = <
					text = <"Comment">
					description = <"Additional narrative about the genetic variant presence not captured in other elements.">
				>
				["at0004"] = <
					text = <"Present">
					description = <"The target variant is present.">
				>
				["at0005"] = <
					text = <"Absent">
					description = <"The target variant is absent.">
				>
				["at0006"] = <
					text = <"No call">
					description = <"No data are available to confirm the presence/absence of the variant.">
				>
				["at0007"] = <
					text = <"Indeterminate">
					description = <"The result is indeterminate.">
				>
			>
		>
	>
	term_bindings = <
		["LOINC"] = <
			items = <
				["at0002"] = <[LOINC(2.65)::69548-6]>
				["at0004"] = <[LOINC(2.65)::LA9633-4]>
				["at0005"] = <[LOINC(2.65)::LA9634-2]>
				["at0006"] = <[LOINC(2.65)::LA18198-4]>
				["at0007"] = <[LOINC(2.65)::LA11884-6]>
			>
		>
	>