<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, one nucleotide is replaced by one other nucleotide." /> <purpose value="To record the details about a substitution 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_substitution_variant"> <path value="Genomic_substitution_variant" /> <short value="Genomic substitution variant" /> <definition value="A human genetic sequence change where, compared to a genomic reference sequence, one nucleotide is replaced by one other nucleotide." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_substitution_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_substitution_variant.Position_substituted"> <path value="Genomic_substitution_variant.Position_substituted" /> <short value="Position substituted" /> <definition value="The position of the substituted nucleotide." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.Position_substituted" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_substitution_variant.Position_substituted.value"> <path value="Genomic_substitution_variant.Position_substituted.value" /> <short value="Position substituted" /> <definition value="The position of the substituted nucleotide." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.Position_substituted.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_substitution_variant.Reference_nucleotide"> <path value="Genomic_substitution_variant.Reference_nucleotide" /> <short value="Reference nucleotide" /> <definition value="The nucleotide at reference position." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.Reference_nucleotide" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_substitution_variant.Reference_nucleotide.value"> <path value="Genomic_substitution_variant.Reference_nucleotide.value" /> <short value="Reference nucleotide" /> <definition value="The nucleotide at reference position." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.Reference_nucleotide.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_substitution_variant.New_nucleotide"> <path value="Genomic_substitution_variant.New_nucleotide" /> <short value="New nucleotide" /> <definition value="Substituted nucleotide." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.New_nucleotide" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_substitution_variant.New_nucleotide.value"> <path value="Genomic_substitution_variant.New_nucleotide.value" /> <short value="New nucleotide" /> <definition value="Substituted nucleotide." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_substitution_variant.New_nucleotide.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_substitution_variant.Reference_sequence"> <path value="Genomic_substitution_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_substitution_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>