<status value="draft" /> <date value="2024-06-18" /> <publisher value="openEHR" /> <contact> <telecom> <system value="url" /> <value value="http://www.veratech.es" /> </telecom> </contact> <description value="Assessment of the presence or absence of a specific genetic variant in a sequenced specimen." /> <purpose value="To record an assessment of the presence or absence of a specific genetic variant in a sequenced specimen." /> <fhirVersion value="4.0.0" /> <mapping> <identity value="openEHR" /> <uri value="http://openehr.org" /> <name value="openEHR Mapping" /> </mapping> <mapping> <identity value="openEHR-natural" /> <uri value="http://openehr.org" /> <name value="openEHR natural path" /> </mapping> <kind value="logical" /> <abstract value="false" /> <type value="StructureDefinition" /> <baseDefinition value="http://hl7.org/fhir/StructureDefinition/Element" /> <snapshot> <element id="Genetic_variant_presence"> <path value="Genetic_variant_presence" /> <short value="Genetic variant presence" /> <definition value="Assessment of the presence or absence of a specific genetic variant in a sequenced specimen." /> <min value="1" /> <max value="1" /> <base> <path value="Genetic_variant_presence" /> <min value="1" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genetic_variant_presence.Variant_name"> <path value="Genetic_variant_presence.Variant_name" /> <short value="Variant name" /> <definition value="The name of the variant." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Variant_name" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_variant_presence.Variant_name.value"> <path value="Genetic_variant_presence.Variant_name.value" /> <short value="Variant name" /> <definition value="The name of the variant." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Variant_name.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genetic_variant_presence.Finding"> <path value="Genetic_variant_presence.Finding" /> <short value="Finding" /> <definition value="The presence or absence of the variant." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Finding" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_variant_presence.Finding.value"> <path value="Genetic_variant_presence.Finding.value" /> <short value="Finding" /> <definition value="The presence or absence of the variant." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Finding.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genetic_variant_presence.Comment"> <path value="Genetic_variant_presence.Comment" /> <short value="Comment" /> <definition value="Additional narrative about the genetic variant presence not captured in other elements." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Comment" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_variant_presence.Comment.value"> <path value="Genetic_variant_presence.Comment.value" /> <short value="Comment" /> <definition value="Additional narrative about the genetic variant presence not captured in other elements." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_variant_presence.Comment.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> </snapshot> </StructureDefinition>