Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

: Pgx-geno-1001 - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="Pgx-geno-1001"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation Pgx-geno-1001</b></p><a name="Pgx-geno-1001"> </a><a name="hcPgx-geno-1001"> </a><a name="Pgx-geno-1001-en-US"> </a><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span>, <span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Patient-CGPatientExample01.html">Adam B. Everyman  Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))</a></p><p><b>effective</b>: 2019-04-01</p><p><b>performer</b>: <a href="Organization-ExampleOrg.html">Organization some lab</a></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/clinvar 638797}">CYP2C19*2/*2</span></p><p><b>specimen</b>: <a href="Specimen-GenomicSpecimenExample01.html">Specimen: status = available; type = Tissue</a></p><p><b>derivedFrom</b>: </p><ul><li><a href="Observation-Pgx-var-1011.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1012.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1013.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1014.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1015.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1016.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1017.html">Observation Genetic variant assessment</a></li><li><a href="Observation-Pgx-var-1018.html">Observation Genetic variant assessment</a></li></ul><h3>Components</h3><table class="grid"><tr><td style="display: none">-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td style="display: none">*</td><td><span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></td><td><span title="Codes:{http://www.genenames.org HGNC:2621}">CYP2C19</span></td></tr></table></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
    </coding>
  </category>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="84413-4"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/CGPatientExample01"/>
  </subject>
  <effectiveDateTime value="2019-04-01"/>
  <performer>🔗 
    <reference value="Organization/ExampleOrg"/>
  </performer>
  <valueCodeableConcept>
    <coding>
      <system value="http://www.ncbi.nlm.nih.gov/clinvar"/>
      <code value="638797"/>
      <display value="CYP2C19*2/*2"/>
    </coding>
  </valueCodeableConcept>
  <specimen>🔗 
    <reference value="Specimen/GenomicSpecimenExample01"/>
  </specimen>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1011"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1012"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1013"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1014"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1015"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1016"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1017"/>
  </derivedFrom>
  <derivedFrom>🔗 
    <reference value="Observation/Pgx-var-1018"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org"/>
        <code value="HGNC:2621"/>
        <display value="CYP2C19"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>