<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="Translocation variant." /> <purpose value="To record the details about a translocation variant observed in a genetic 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="Genetic_translocation_variant"> <path value="Genetic_translocation_variant" /> <short value="Genetic translocation variant" /> <definition value="Translocation variant." /> <min value="1" /> <max value="1" /> <base> <path value="Genetic_translocation_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="Genetic_translocation_variant.Breakpoint_position_1"> <path value="Genetic_translocation_variant.Breakpoint_position_1" /> <short value="Breakpoint position 1" /> <definition value="Position of first breakpoint relative to start of \"Chromosome 1\"." /> <min value="1" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Breakpoint_position_1" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genetic_translocation_variant.Breakpoint_position_1.value"> <path value="Genetic_translocation_variant.Breakpoint_position_1.value" /> <short value="Breakpoint position 1" /> <definition value="Position of first breakpoint relative to start of \"Chromosome 1\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Breakpoint_position_1.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="Genetic_translocation_variant.Strand_1"> <path value="Genetic_translocation_variant.Strand_1" /> <short value="Strand 1" /> <definition value="A value of \"+\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of \"Breakpoint position 1\". A value of \"-\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of \"Breakpoint position 1\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Strand_1" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_translocation_variant.Strand_1.value"> <path value="Genetic_translocation_variant.Strand_1.value" /> <short value="Strand 1" /> <definition value="A value of \"+\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment at the first breakpoint right of \"Breakpoint position 1\". A value of \"-\" indicates that the chromosomal segment at the second breakpoint is connected to the chromosomal segment of the first breakpoint left of \"Breakpoint position 1\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Strand_1.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="Genetic_translocation_variant.Reference_sequence_1"> <path value="Genetic_translocation_variant.Reference_sequence_1" /> <short value="Reference sequence 1" /> <definition value="Chromosome of first breakpoint." /> <min value="0" /> <max value="*" /> <base> <path value="Genetic_translocation_variant.Reference_sequence_1" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genetic_translocation_variant.Breakpoint_position_2"> <path value="Genetic_translocation_variant.Breakpoint_position_2" /> <short value="Breakpoint position 2" /> <definition value="Position of second breakpoint relative to start of \"Chromosome 2\"." /> <min value="1" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Breakpoint_position_2" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genetic_translocation_variant.Breakpoint_position_2.value"> <path value="Genetic_translocation_variant.Breakpoint_position_2.value" /> <short value="Breakpoint position 2" /> <definition value="Position of second breakpoint relative to start of \"Chromosome 2\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Breakpoint_position_2.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="Genetic_translocation_variant.Strand_2"> <path value="Genetic_translocation_variant.Strand_2" /> <short value="Strand 2" /> <definition value="A value of \"+\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of \"Breakpoint position 2\". A value of \"-\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of \"Breakpoint position 2\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Strand_2" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_translocation_variant.Strand_2.value"> <path value="Genetic_translocation_variant.Strand_2.value" /> <short value="Strand 2" /> <definition value="A value of \"+\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment at the second breakpoint right of \"Breakpoint position 2\". A value of \"-\" indicates that the chromosomal segment at the first breakpoint is connected to the chromosomal segment of the second breakpoint left of \"Breakpoint position 2\"." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.Strand_2.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="Genetic_translocation_variant.Reference_sequence_2"> <path value="Genetic_translocation_variant.Reference_sequence_2" /> <short value="Reference sequence 2" /> <definition value="Chromosome of second breakpoint." /> <min value="0" /> <max value="*" /> <base> <path value="Genetic_translocation_variant.Reference_sequence_2" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genetic_translocation_variant.HGVS_term"> <path value="Genetic_translocation_variant.HGVS_term" /> <short value="HGVS term" /> <definition value="The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.HGVS_term" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genetic_translocation_variant.HGVS_term.value"> <path value="Genetic_translocation_variant.HGVS_term.value" /> <short value="HGVS term" /> <definition value="The description of the variant using the recommendations of the accepted HGVS nomeclature named extension ISCN." /> <min value="0" /> <max value="1" /> <base> <path value="Genetic_translocation_variant.HGVS_term.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>