MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

: Genotyp BRAF

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<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-genotyp-1"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/genotyp|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genotype|3.0.0"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xml:lang="en" lang="en"><hr/><p><b>English</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-genotyp-1</b></p><a name="mii-exa-molgen-genotyp-1"> </a><a name="hcmii-exa-molgen-genotyp-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">Profiles: <a href="StructureDefinition-mii-pr-molgen-genotyp.html">MII PR MolGen Genotyp</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genotype.html">Genotype</a> version: 3.0.0</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://loinc.org 84413-4}">Genotype display name</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient.html">Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Medical record number (use: usual, ))</a></p><p><b>effective</b>: 2022-04-07</p><p><b>value</b>: <span title="Codes:">BRAF rs113488022 T&gt;A</span></p><p><b>method</b>: <span title="Codes:{http://loinc.org LA26398-0}">Sequencing</span></p><p><b>specimen</b>: <a href="Specimen-mii-exa-molgen-specimen-1.html">Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)</a></p><p><b>device</b>: <a href="Device-mii-exa-molgen-device-sequencer.html">Device: status = active; manufacturer = Illumina</a></p><p><b>derivedFrom</b>: <a href="Observation-mii-exa-molgen-variante-1.html">Observation Genetic variant assessment</a></p><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:{http://www.genenames.org/geneId HGNC:1097}">BRAF</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48001-2}">Cytogenetic (chromosome) location</span></p><p><b>value</b>: <span title="Codes:{urn:oid:2.16.840.1.113883.6.335 7q34}">7q34</span></p></blockquote></div>
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  <status value="final"/>
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    <coding>
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              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="84413-4"/>
      <display value="Genotype display name"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient"/>
  </subject>
  <effectiveDateTime value="2022-04-07"/>
  <valueCodeableConcept>
    <text value="BRAF rs113488022 T&gt;A"/>
  </valueCodeableConcept>
  <method>
    <coding>
      <system value="http://loinc.org"/>
      <code value="LA26398-0"/>
      <display value="Sequencing"/>
    </coding>
  </method>
  <specimen>🔗 
    <reference value="Specimen/mii-exa-molgen-specimen-1"/>
  </specimen>
  <device>🔗 
    <reference value="Device/mii-exa-molgen-device-sequencer"/>
  </device>
  <derivedFrom>🔗 
    <reference value="Observation/mii-exa-molgen-variante-1"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48018-6"/>
        <display value="Gene studied [ID]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org/geneId"/>
        <code value="HGNC:1097"/>
        <display value="BRAF"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="48001-2"/>
        <display value="Cytogenetic (chromosome) location"/>
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    <valueCodeableConcept>
      <coding>
        <system value="urn:oid:2.16.840.1.113883.6.335"/>
        <code value="7q34"/>
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