MII IG Kerndatensatz-Modul Molekulares Tumorboard
2026.0.0 - release Unknown region code '276'

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

: Beispiel fuer Copy Number Variant - XML Representation

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<Observation xmlns="http://hl7.org/fhir">
  <id value="MII-EXA-MTB-Copy-Number-Variant-1"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-copy-number-variant|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-Copy-Number-Variant-1</b></p><a name="MII-EXA-MTB-Copy-Number-Variant-1"> </a><a name="hcMII-EXA-MTB-Copy-Number-Variant-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-copy-number-variant.html">MII PR MTB Copy Number Variantversion: 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><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 LA21270-6}">Chromosome 17</span></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>: 43044295-43125364</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 82155-3}">Genomic structural variant copy number</span></p><p><b>value</b>: 3 1<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</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 relative-copy-number}">Relative Copy Number of Allele A and B</span></p><p><b>value</b>: 1.5 1<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</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 copy-number-allele-a}">Copy Number of Allele B</span></p><p><b>value</b>: 1 1<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</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 copy-number-allele-b}">Copy Number of Allele A</span></p><p><b>value</b>: 2 1<span style="background: LightGoldenRodYellow"> (Details: UCUM  code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48018-6}">Gene studied [ID]</span></p><p><b>value</b>: <span title="Codes:">BRCA1</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 reported-focality}">Reported focality</span></p><p><b>value</b>: 100 %<span style="background: LightGoldenRodYellow"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://bwhc.de/mtb/genetics-copy-number-variant type}">type</span></p><p><b>value</b>: <span title="Codes:{http://bwhc.de/mtb/genetics-copy-number-variant high-level-gain}">high-level-gain</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 copy-number-neutral-loh}">Copy Number Neutral Loss of Heterozygosity</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA33-6}">Yes</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>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48000-4"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA21270-6"/>
        <display value="Chromosome 17"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="81254-5"/>
      </coding>
    </code>
    <valueRange>
      <low>
        <value value="43044295"/>
      </low>
      <high>
        <value value="43125364"/>
      </high>
    </valueRange>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="82155-3"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="3"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="relative-copy-number"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="1.5"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="copy-number-allele-a"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="1"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-molekulare-biomarker"/>
        <code value="copy-number-allele-b"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="2"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="1"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <code value="HGNC:1100"/>
        <display value="BRCA1"/>
      </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="reported-focality"/>
      </coding>
    </code>
    <valueQuantity>
      <value value="100"/>
      <system value="http://unitsofmeasure.org"/>
      <code value="%"/>
    </valueQuantity>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://bwhc.de/mtb/genetics-copy-number-variant"/>
        <code value="type"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://bwhc.de/mtb/genetics-copy-number-variant"/>
        <code value="high-level-gain"/>
        <display value="high-level-gain"/>
      </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="copy-number-neutral-loh"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA33-6"/>
      </coding>
    </valueCodeableConcept>
  </component>
</Observation>