FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

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## : fhir-osiris-example-snp-1 - XML Representation

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    <Observation xmlns="http://hl7.org/fhir">
      <id value="fhir-osiris-example-snp-1"/>
      <meta>
        <profile
                 value="https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/snp"/>
      </meta>
      <text>
        <status value="extensions"/>
        <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation fhir-osiris-example-snp-1</b></p><a name="fhir-osiris-example-snp-1"> </a><a name="hcfhir-osiris-example-snp-1"> </a><a name="fhir-osiris-example-snp-1-en-US"> </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">Profil: <a href="StructureDefinition-snp.html">Single Nucleotide Polymorphism</a></p></div><p><b>Strand bias</b>: false</p><p><b>status</b>: Final</p><p><b>category</b>: <span title="Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}">Laboratory</span></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></p><p><b>subject</b>: <a href="Patient-L304.html">Patient Anonyme Male, Date de Naissance :1967-11-08</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><p><b>derivedFrom</b>: <a href="Observation-fhir-osiris-example-sequencinganalysis-1.html">Observation Omic</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 62374-4}">Human reference sequence assembly version</span></p><p><b>value</b>: <span title="Codes:">hg19</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48019-4}">DNA change type</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6690-7}">Substitution</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class [Type]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6684-0}">Somatic</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82121-5}">Allelic read depth</span></p><p><b>value</b>: 31</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic ref allele [ID]</span></p><p><b>value</b>: T</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic alt allele [ID]</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48000-4}">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA21256-5}">Chromosome 3</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org LP232001-0}">Genetic variant details</span></p><p><b>value</b>: 6</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81254-5}">Genomic allele start-end</span></p><p><b>value</b>: 178916948-178916948</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53034-5}">Allelic state</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6706-1}">Heterozygous</span></p></blockquote></div>
      </text>
      <extension
                 url="https://ig-osiris.cancer.fr/ig/osiris/StructureDefinition/strand-bias">
        <valueBoolean value="false"/>
      </extension>
      <status value="final"/>
      <category>
        <coding>
          <system
                  value="http://terminology.hl7.org/CodeSystem/observation-category"/>
          <code value="laboratory"/>
        </coding>
      </category>
      <code>
        <coding>
          <system value="http://loinc.org"/>
          <code value="69548-6"/>
        </coding>
      </code>
      <subject>🔗
        <reference value="Patient/L304"/>
      </subject>
      <valueCodeableConcept>
        <coding>
          <system value="http://loinc.org"/>
          <code value="LA9633-4"/>
        </coding>
      </valueCodeableConcept>
      <derivedFrom>🔗
        <reference value="Observation/fhir-osiris-example-sequencinganalysis-1"/>
      </derivedFrom>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="62374-4"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <code value="hg19"/>
          </coding>
        </valueCodeableConcept>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="48019-4"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA6690-7"/>
          </coding>
        </valueCodeableConcept>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="48002-0"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA6684-0"/>
          </coding>
        </valueCodeableConcept>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="82121-5"/>
          </coding>
        </code>
        <valueQuantity>
          <value value="31"/>
        </valueQuantity>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="69547-8"/>
          </coding>
        </code>
        <valueString value="T"/>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="69551-0"/>
          </coding>
        </code>
        <valueString value="A"/>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="48000-4"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA21256-5"/>
          </coding>
        </valueCodeableConcept>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LP232001-0"/>
          </coding>
        </code>
        <valueQuantity>
          <value value="6"/>
        </valueQuantity>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="81254-5"/>
          </coding>
        </code>
        <valueRange>
          <low>
            <value value="178916948"/>
          </low>
          <high>
            <value value="178916948"/>
          </high>
        </valueRange>
      </component>
      <component>
        <code>
          <coding>
            <system value="http://loinc.org"/>
            <code value="53034-5"/>
          </coding>
        </code>
        <valueCodeableConcept>
          <coding>
            <system value="http://loinc.org"/>
            <code value="LA6706-1"/>
          </coding>
        </valueCodeableConcept>
      </component>
    </Observation>