MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: Beispiel RNA-Fusion - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="MII-EXA-MTB-RNA-Fusion-1"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-rna-fusion|2026.0.0"/>
  </meta>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation MII-EXA-MTB-RNA-Fusion-1</b></p><a name="MII-EXA-MTB-RNA-Fusion-1"> </a><a name="hcMII-EXA-MTB-RNA-Fusion-1"> </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-mii-pr-mtb-rna-fusion.html">MII PR MTB RNA Fusionversion: null2026.0.0)</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}">Genetik</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="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.5.4&amp;canonical=http://fhir.org/packages/de.basisprofil.r4/Patient/example">Patient/example</a></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-gene}">Five Prime Gene</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:1316}">EML4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-transcript-id}">Five Prime Transcript ID</span></p><p><b>value</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_019063.4}">NM_019063.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-exon-id}">Five Prime Exon ID</span></p><p><b>value</b>: <span title="Codes:">Exon 13</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-position}">Five Prime Position</span></p><p><b>value</b>: 42396490-42396490</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker five-prime-strand}">Five Prime Strand</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0002262}">Watson_strand</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-gene}">Three Prime Gene</span></p><p><b>value</b>: <span title="Codes:{http://www.genenames.org/geneId HGNC:427}">ALK</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-transcript-id}">Three Prime Transcript ID</span></p><p><b>value</b>: <span title="Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_004304.5}">NM_004304.5</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-exon-id}">Three Prime Exon ID</span></p><p><b>value</b>: <span title="Codes:">Exon 20</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-position}">Three Prime Position</span></p><p><b>value</b>: 29446394-29446394</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker three-prime-strand}">Three Prime Strand</span></p><p><b>value</b>: <span title="Codes:{http://www.sequenceontology.org SO:0002262}">Watson_strand</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81252-9}">Discrete genetic variant</span></p><p><b>value</b>: <span title="Codes:{https://cancer.sanger.ac.uk/cosmic COSF1171}">EML4-ALK fusion</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>: 250 reads<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</span></p></blockquote></div>
  </text>
  <status value="final"/>
  <category>
    <coding>
      <system
              value="http://terminology.hl7.org/CodeSystem/observation-category"/>
      <code value="laboratory"/>
      <display 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="69548-6"/>
      <display value="Genetic variant assessment"/>
    </coding>
  </code>
  <subject>
    <reference value="Patient/example"/>
  </subject>
  <valueCodeableConcept>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA9633-4"/>
      <display value="Present"/>
    </coding>
  </valueCodeableConcept>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="five-prime-gene"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:1316"/>
        <display value="EML4"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="five-prime-transcript-id"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="https://www.ncbi.nlm.nih.gov/refseq/"/>
        <code value="NM_019063.4"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="five-prime-exon-id"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Exon 13"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="five-prime-position"/>
      </coding>
    </code>
    <valueRange>
      <low>
        <value value="42396490"/>
      </low>
      <high>
        <value value="42396490"/>
      </high>
    </valueRange>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="five-prime-strand"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.sequenceontology.org"/>
        <code value="SO:0002262"/>
        <display value="Watson_strand"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="three-prime-gene"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:427"/>
        <display value="ALK"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="three-prime-transcript-id"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="https://www.ncbi.nlm.nih.gov/refseq/"/>
        <code value="NM_004304.5"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="three-prime-exon-id"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <text value="Exon 20"/>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="three-prime-position"/>
      </coding>
    </code>
    <valueRange>
      <low>
        <value value="29446394"/>
      </low>
      <high>
        <value value="29446394"/>
      </high>
    </valueRange>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="three-prime-strand"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.sequenceontology.org"/>
        <code value="SO:0002262"/>
        <display value="Watson_strand"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81252-9"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="https://cancer.sanger.ac.uk/cosmic"/>
        <code value="COSF1171"/>
        <display value="EML4-ALK fusion"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="82121-5"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="250"/>
      <unit value="reads"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
  </component>
</Observation>