<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="Findings and annotations related to one variant found in a human individual by a sequencing test." /> <purpose value="To report findings and annotations related to one variant found in the genome by a sequencing test." /> <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_variant_result"> <path value="Genomic_variant_result" /> <short value="Genomic variant result" 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value="Genomic_variant_result.Transcript.RNA_change.value" /> <short value="RNA change" /> <definition value="Description of the variation at the RNA level following the HGVS nomenclature." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Transcript.RNA_change.value" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_variant_result.Transcript.Predicted_impact"> <path value="Genomic_variant_result.Transcript.Predicted_impact" /> <short value="Predicted impact" /> <definition value="Estimate of the effects that the variant may have on the transcript." /> <min value="0" /> <max value="*" /> <base> <path value="Genomic_variant_result.Transcript.Predicted_impact" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier 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value="Genomic_variant_result.Transcript.Predicted_impact.Qualitative_prediction" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_variant_result.Transcript.Predicted_impact.Qualitative_prediction.value"> <path value="Genomic_variant_result.Transcript.Predicted_impact.Qualitative_prediction.value" /> <short value="Qualitative prediction" /> <definition value="Human readable version of the predicted impact." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Transcript.Predicted_impact.Qualitative_prediction.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_variant_result.Transcript.Functional_impact"> <path value="Genomic_variant_result.Transcript.Functional_impact" /> <short value="Functional impact" /> <definition value="Interpretation of the variation 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<short value="Score" /> <definition value="The conservation score." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_variant_result.Conservation.Score" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Genomic_variant_result.Conservation.Score.value"> <path value="Genomic_variant_result.Conservation.Score.value" /> <short value="Score" /> <definition value="The conservation score." /> <min value="1" /> <max value="1" /> <base> <path value="Genomic_variant_result.Conservation.Score.value" /> <min value="1" /> <max value="1" /> </base> <type> <code value="Quantity" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_variant_result.Read_depth"> <path value="Genomic_variant_result.Read_depth" /> <short value="Read depth" /> <definition value="The total number of reads mapped at this specific location." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Read_depth" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_variant_result.Read_depth.value"> <path value="Genomic_variant_result.Read_depth.value" /> <short value="Read depth" /> <definition value="The total number of reads mapped at this specific location." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Read_depth.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_variant_result.Allele_depth"> <path value="Genomic_variant_result.Allele_depth" /> <short value="Allele depth" /> <definition value="The number of reads that support the reported variant." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Allele_depth" /> <min value="0" /> <max value="1" /> </base> </element> <element 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<isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_variant_result.Population_allele_frequency_details.Population_allele_frequency_knowledge_base"> <path value="Genomic_variant_result.Population_allele_frequency_details.Population_allele_frequency_knowledge_base" /> <short value="Population allele frequency knowledge base" /> <definition value="Structured details about the database used to calculate the allele frequency." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Population_allele_frequency_details.Population_allele_frequency_knowledge_base" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_variant_result.Population_allele_frequency_details.Population_allele_frequency"> <path 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</base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Genomic_variant_result.Allelic_state"> <path value="Genomic_variant_result.Allelic_state" /> <short value="Allelic state" /> <definition value="The level of occurrence of a single DNA marker within a set of chromosomes." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Allelic_state" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Genomic_variant_result.Allelic_state.value_DV_CODED_TEXT"> <path value="Genomic_variant_result.Allelic_state.value_DV_CODED_TEXT" /> <short value="Allelic state" /> <definition value="The level of occurrence of a single DNA marker within a set of chromosomes." /> <min value="0" /> <max value="1" /> <base> <path value="Genomic_variant_result.Allelic_state.value_DV_CODED_TEXT" /> <min value="0" /> <max value="1" /> </base> <type> <code 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