Genomics Reporting Implementation Guide
3.0.0-ballot - Ballot International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0-ballot: STU 3 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

: PGXGenomicStudyAnalysis - XML Representation

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<Procedure xmlns="http://hl7.org/fhir">
  <id value="PGXGenomicStudyAnalysis"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative: Procedure</b><a name="PGXGenomicStudyAnalysis"> </a></p><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Resource Procedure &quot;PGXGenomicStudyAnalysis&quot; </p><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-genomic-study-analysis.html">Genomic Study Analysis</a></p></div><p><b>Genomic Study Analysis Genome Build</b>: GRCh38 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="https://loinc.org/">LOINC</a>#LA26806-2)</span></p><blockquote><p><b>Genomic Study Analysis Metrics</b></p><blockquote><p><b>url</b></p><code>sequencing-coverage</code></blockquote><p><b>value</b>: 100</p></blockquote><blockquote><p><b>Genomic Study Analysis Regions</b></p><blockquote><p><b>url</b></p><code>description</code></blockquote><p><b>value</b>: protein-coding and exon-splicing regions</p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: CYP2C19 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html">HUGO Gene Nomenclature Committee Genes</a>#HGNC:2621)</span></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: CYP2C9 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html">HUGO Gene Nomenclature Committee Genes</a>#HGNC:2623)</span></p><blockquote><p><b>url</b></p><code>studied</code></blockquote><p><b>value</b>: VKORC1 <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-v3-hgnc.html">HUGO Gene Nomenclature Committee Genes</a>#HGNC:23663)</span></p></blockquote><p><b>status</b>: completed</p><p><b>category</b>: Laboratory <span style="background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki"> (<a href="http://terminology.hl7.org/5.3.0/CodeSystem-observation-category.html">Observation Category Codes</a>#laboratory)</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Patient/CGPatientExample01</a> &quot; EVERYMAN&quot;</p><p><b>performed</b>: 2021-01-01 01:01:10-0600</p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build">
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA26806-2"/>
        <display value="GRCh38"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-metrics">
    <extension url="sequencing-coverage">
      <valueQuantity>
        <value value="100"/>
      </valueQuantity>
    </extension>
  </extension>
  <extension
             url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-regions">
    <extension url="description">
      <valueString value="protein-coding and exon-splicing regions"/>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org"/>
          <code value="HGNC:2621"/>
          <display value="CYP2C19"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org"/>
          <code value="HGNC:2623"/>
          <display value="CYP2C9"/>
        </coding>
      </valueCodeableConcept>
    </extension>
    <extension url="studied">
      <valueCodeableConcept>
        <coding>
          <system value="http://www.genenames.org"/>
          <code value="HGNC:23663"/>
          <display value="VKORC1"/>
        </coding>
      </valueCodeableConcept>
    </extension>
  </extension>
  <status value="completed"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <subject>🔗 
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <performedDateTime value="2021-01-01T01:01:10-06:00"/>
</Procedure>