<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 segment of one or more nucleotides (the repeat unit) is present several times, one after the other." /> <purpose value="To record the details about a repeated sequence 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_repeated_sequence_variant"> <path value="Genomic_repeated_sequence_variant" /> <short value="Genomic repeated sequence variant" /> <definition value="A human genetic sequence change where, compared to a genomic reference sequence, a segment of one or more nucleotides (the repeat unit) is present several times, one after the other." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_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_repeated_sequence_variant.Start_position"> <path value="Genomic_repeated_sequence_variant.Start_position" /> <short value="Start position" /> <definition value="Position of the first nucleotide of the repeated range." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Start_position" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_repeated_sequence_variant.Start_position.value"> <path value="Genomic_repeated_sequence_variant.Start_position.value" /> <short value="Start position" /> <definition value="Position of the first nucleotide of the repeated range." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_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_repeated_sequence_variant.End_position"> <path value="Genomic_repeated_sequence_variant.End_position" /> <short value="End position" /> <definition value="Position of the last nucleotide of the repeated range." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.End_position" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_repeated_sequence_variant.End_position.value"> <path value="Genomic_repeated_sequence_variant.End_position.value" /> <short value="End position" /> <definition value="Position of the last nucleotide of the repeated range." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_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_repeated_sequence_variant.Repeat_unit"> <path value="Genomic_repeated_sequence_variant.Repeat_unit" /> <short value="Repeat unit" /> <definition value="A repeated unit consisting of a repeated sequence and a copy number." /> <min value="1" /> <max value="*" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit" /> <min value="1" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order" /> <short value="Repeat order" /> <definition value="The intended position of this repeat unit within the overall sequence of repeat units." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.value"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.value" /> <short value="Repeat order" /> <definition value="The intended position of this repeat unit within the overall sequence of repeat units." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeat_order.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_repeated_sequence_variant.Repeat_unit.Repeated_sequence"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence" /> <short value="Repeated sequence" /> <definition value="The sequence of nucleotides that has been repeated." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence.value"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeated_sequence.value" /> <short value="Repeated sequence" /> <definition value="The sequence of nucleotides that has been repeated." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Repeated_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_repeated_sequence_variant.Repeat_unit.Copy_number"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Copy_number" /> <short value="Copy number" /> <definition value="The total number of times the 'Repeated sequence' was repeated." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Copy_number" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.value"> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.value" /> <short value="Copy number" /> <definition value="The total number of times the 'Repeated sequence' was repeated." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_repeated_sequence_variant.Repeat_unit.Copy_number.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_repeated_sequence_variant.Reference_sequence"> <path value="Genomic_repeated_sequence_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_repeated_sequence_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>