<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="A human genetic sequence change where, compared to the genomic reference sequence, one or more nucleotides are inserted and where the insertion is not a copy of a sequence immediately 5'." /> <purpose value="To record the details about an insertion variant of human DNA, observed in a genomic sequence." /> <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="Genomic_insertion_variant"> <path value="Genomic_insertion_variant" /> <short value="Genomic insertion variant" /> <definition value="A human genetic sequence change where, compared to the genomic reference sequence, one or more nucleotides are inserted and where the insertion is not a copy of a sequence immediately 5'." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_insertion_variant" /> <min value="1" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_insertion_variant.Start_position"> <path value="Genomic_insertion_variant.Start_position" /> <short value="Start position" /> <definition value="The position of the first of the two flanking nucleotides." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.Start_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_insertion_variant.Start_position.value"> <path value="Genomic_insertion_variant.Start_position.value" /> <short value="Start position" /> <definition value="The position of the first of the two flanking nucleotides." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.Start_position.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_insertion_variant.End_position"> <path value="Genomic_insertion_variant.End_position" /> <short value="End position" /> <definition value="The position of the last of the two flanking nucleotides." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.End_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_insertion_variant.End_position.value"> <path value="Genomic_insertion_variant.End_position.value" /> <short value="End position" /> <definition value="The position of the last of the two flanking nucleotides." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.End_position.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_insertion_variant.Inserted_sequence"> <path value="Genomic_insertion_variant.Inserted_sequence" /> <short value="Inserted sequence" /> <definition value="The inserted nucleotide or sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.Inserted_sequence" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_insertion_variant.Inserted_sequence.value"> <path value="Genomic_insertion_variant.Inserted_sequence.value" /> <short value="Inserted sequence" /> <definition value="The inserted nucleotide or sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_insertion_variant.Inserted_sequence.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="Genomic_insertion_variant.Reference_sequence"> <path value="Genomic_insertion_variant.Reference_sequence" /> <short value="Reference sequence" /> <definition value="The sequence file used as a reference to describe this variant." /> <min value="0" /> <max value="*" /> <base> <path value="Genomic_insertion_variant.Reference_sequence" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> </snapshot> </StructureDefinition>