<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 on pharmacogenetic testing for a single gene." /> <purpose value="To record findings on pharmacogenetic testing for a single gene." /> <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="Pharmacogenetic_result"> <path value="Pharmacogenetic_result" /> <short value="Pharmacogenetic result" /> <definition value="Findings on pharmacogenetic testing for a single gene." /> <min value="1" /> <max value="1" /> <base> <path value="Pharmacogenetic_result" /> <min value="1" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="true" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Gene_symbol"> <path value="Pharmacogenetic_result.Gene_symbol" /> <short value="Gene symbol" /> <definition value="The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name." /> <min value="1" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Gene_symbol" /> <min value="1" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Gene_symbol.value"> <path value="Pharmacogenetic_result.Gene_symbol.value" /> <short value="Gene symbol" /> <definition value="The official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Gene_symbol.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="Pharmacogenetic_result.Diplotype"> <path value="Pharmacogenetic_result.Diplotype" /> <short value="Diplotype" /> <definition value="A textual representation of the diplotype, normally as string of characters, either as as gene change descriptors or star allele diplotypes." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Diplotype" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Diplotype.value"> <path value="Pharmacogenetic_result.Diplotype.value" /> <short value="Diplotype" /> <definition value="A textual representation of the diplotype, normally as string of characters, either as as gene change descriptors or star allele diplotypes." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Diplotype.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="Pharmacogenetic_result.Phenotype"> <path value="Pharmacogenetic_result.Phenotype" /> <short value="Phenotype" /> <definition value="The estimated pharmacological impact of the identified genotype." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Phenotype" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Phenotype.value_DV_CODED_TEXT"> <path value="Pharmacogenetic_result.Phenotype.value_DV_CODED_TEXT" /> <short value="Phenotype" /> <definition value="The estimated pharmacological impact of the identified genotype." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Phenotype.value_DV_CODED_TEXT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Phenotype.value_DV_TEXT"> <path value="Pharmacogenetic_result.Phenotype.value_DV_TEXT" /> <short value="Phenotype" /> <definition value="The estimated pharmacological impact of the identified genotype." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Phenotype.value_DV_TEXT" /> <min value="0" /> <max value="1" /> </base> <type> <code value="CodeableConcept" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Overall_activity_score"> <path value="Pharmacogenetic_result.Overall_activity_score" /> <short value="Overall activity score" /> <definition value="An associated derived activity score, based on known association with specific genotypes and individual allele activity values, which is required to assess metaboliser status for some phenotypes." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Overall_activity_score" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Overall_activity_score.value"> <path value="Pharmacogenetic_result.Overall_activity_score.value" /> <short value="Overall activity score" /> <definition value="An associated derived activity score, based on known association with specific genotypes and individual allele activity values, which is required to assess metaboliser status for some phenotypes." /> <min value="1" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Overall_activity_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="Pharmacogenetic_result.Individual_activity_value"> <path value="Pharmacogenetic_result.Individual_activity_value" /> <short value="Individual activity value" /> <definition value="A list of enzyme activity values each associated with a specific allele, which are used to derive the Overall activity score." /> <min value="0" /> <max value="*" /> <base> <path value="Pharmacogenetic_result.Individual_activity_value" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype"> <path value="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype" /> <short value="Allele haplotype" /> <definition value="The allele haplotype descriptor associated with the activity value." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype.value"> <path value="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype.value" /> <short value="Allele haplotype" /> <definition value="The allele haplotype descriptor associated with the activity value." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Individual_activity_value.Allele_haplotype.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="Pharmacogenetic_result.Individual_activity_value.Activity_value"> <path value="Pharmacogenetic_result.Individual_activity_value.Activity_value" /> <short value="Activity value" /> <definition value="An associated derived activity score, based on known association with specific genotypes, which is required to assess metaboliser status for some phenotypes." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Individual_activity_value.Activity_value" /> <min value="0" /> <max value="1" /> </base> </element> <element id="Pharmacogenetic_result.Individual_activity_value.Activity_value.value"> <path value="Pharmacogenetic_result.Individual_activity_value.Activity_value.value" /> <short value="Activity value" /> <definition value="An associated derived activity score, based on known association with specific genotypes, which is required to assess metaboliser status for some phenotypes." /> <min value="1" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Individual_activity_value.Activity_value.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="Pharmacogenetic_result.Per_allele_tested"> <path value="Pharmacogenetic_result.Per_allele_tested" /> <short value="Per-allele tested" /> <definition value="A list of the specific alleles tested by this pharmacogenetic test, as the specific alleles may vary between tests." /> <min value="0" /> <max value="*" /> <base> <path value="Pharmacogenetic_result.Per_allele_tested" /> <min value="0" /> <max value="*" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Per_allele_tested.SNP_rsNumber"> <path value="Pharmacogenetic_result.Per_allele_tested.SNP_rsNumber" /> <short value="SNP rsNumber" /> <definition value="The rsNumber (rs ID) of the allele tested, based on the dbSNP identifier." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Per_allele_tested.SNP_rsNumber" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> <element id="Pharmacogenetic_result.Variant_detail"> <path value="Pharmacogenetic_result.Variant_detail" /> <short value="Variant detail" /> <definition value="Details of variant findings." /> <min value="0" /> <max value="1" /> <base> <path value="Pharmacogenetic_result.Variant_detail" /> <min value="0" /> <max value="1" /> </base> <type> <code value="BackboneElement" /> </type> <mustSupport value="false" /> <isModifier value="false" /> <isSummary value="true" /> </element> </snapshot> </StructureDefinition>