<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 a genomic reference sequence, a range of nucleotides are replaced by a sequence from elsewhere in the genome." /> <purpose value="To record the details about a conversion 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_conversion_variant"> <path value="Genomic_conversion_variant" /> <short value="Genomic conversion variant" /> <definition value="A human genetic sequence change where, compared to a genomic reference sequence, a range of nucleotides are replaced by a sequence from elsewhere in the genome." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_conversion_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_conversion_variant.Start_converted_position"> <path value="Genomic_conversion_variant.Start_converted_position" /> <short value="Start converted position" /> <definition value="The position of the first nucleotide of the converted range." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Start_converted_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_conversion_variant.Start_converted_position.value"> <path value="Genomic_conversion_variant.Start_converted_position.value" /> <short value="Start converted position" /> <definition value="The position of the first nucleotide of the converted range." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Start_converted_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_conversion_variant.End_converted_position"> <path value="Genomic_conversion_variant.End_converted_position" /> <short value="End converted position" /> <definition value="The position of the last nucleotide of the converted range." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.End_converted_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_conversion_variant.End_converted_position.value"> <path value="Genomic_conversion_variant.End_converted_position.value" /> <short value="End converted position" /> <definition value="The position of the last nucleotide of the converted range." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.End_converted_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_conversion_variant.Replacing_sequence_start_position"> <path value="Genomic_conversion_variant.Replacing_sequence_start_position" /> <short value="Replacing sequence start position" /> <definition value="The position of the first nucleotide of the replacing sequence." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Replacing_sequence_start_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_conversion_variant.Replacing_sequence_start_position.value"> <path value="Genomic_conversion_variant.Replacing_sequence_start_position.value" /> <short value="Replacing sequence start position" /> <definition value="The position of the first nucleotide of the replacing sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Replacing_sequence_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_conversion_variant.Replacing_sequence_end_position"> <path value="Genomic_conversion_variant.Replacing_sequence_end_position" /> <short value="Replacing sequence end position" /> <definition value="The position of the last nucleotide of the replacing sequence." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Replacing_sequence_end_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_conversion_variant.Replacing_sequence_end_position.value"> <path value="Genomic_conversion_variant.Replacing_sequence_end_position.value" /> <short value="Replacing sequence end position" /> <definition value="The position of the last nucleotide of the replacing sequence." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_conversion_variant.Replacing_sequence_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_conversion_variant.Converted_reference_sequence"> <path value="Genomic_conversion_variant.Converted_reference_sequence" /> <short value="Converted reference sequence" /> <definition value="The sequence file used as a reference to describe the converted region." /> <min value="0" /> <max value="*" /> <base> <path value="Genomic_conversion_variant.Converted_reference_sequence" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_conversion_variant.Replacing_reference_sequence"> <path value="Genomic_conversion_variant.Replacing_reference_sequence" /> <short value="Replacing reference sequence" /> <definition value="The sequence file used as a reference to describe the replacing region." /> <min value="0" /> <max value="*" /> <base> <path value="Genomic_conversion_variant.Replacing_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>