Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-ballot 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

• Narrative Content
• XML
• JSON
• TTL

: pop-allele-freq - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="pop-allele-freq"/>
  <meta>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-annotation"/>
  </meta>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation pop-allele-freq</b></p><a name="pop-allele-freq"> </a><a name="hcpop-allele-freq"> </a><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"/><p style="margin-bottom: 0px">Profile: <a href="StructureDefinition-genomic-annotation.html">Genomic Annotation</a></p></div><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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs genomic-annotation}">Genomic Annotation</span></p><p><b>subject</b>: <a href="Patient-HG00403.html">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href="Organization-ExampleLab.html">Organization Some lab</a></p><p><b>derivedFrom</b>: <a href="Observation-variant-with-molec-consequences.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>KnowledgebaseAncestryGroup</b>: <span title="Codes:">south asian</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92821-8}">Allelic frequency in Population</span></p><p><b>value</b>: 0.01</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs knowledge-base}">Knowledge Base</span></p><p><b>value</b>: <span title="Codes:">gnomAD v3.1.2 Exomes</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs annotation-pipeline}">Annotation Pipeline</span></p><p><b>value</b>: <span title="Codes:">Oakvar v2.34</span></p></blockquote></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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="genomic-annotation"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/HG00403"/>
  </subject>
  <effectiveDateTime value="2023-06-01"/>
  <performer>🔗 
    <reference value="Organization/ExampleLab"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/variant-with-molec-consequences"/>
  </derivedFrom>
  <component>
    <extension
               url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/knowledgebase-ancestry-group">
      <valueCodeableConcept>
        <text value="south asian"/>
      </valueCodeableConcept>
    </extension>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="92821-8"/>
        <display value="Allelic frequency in Population"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="0.01"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="knowledge-base"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="gnomAD v3.1.2 Exomes"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="annotation-pipeline"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Oakvar v2.34"/>
    </valueCodeableConcept>
  </component>
</Observation>