MII Implementierungsleitfaden 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

: CNV SMO Molekulare Konsequenz

Raw xml | Download


<Observation xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-molekulare-konsequenz-cnv-4"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/mii-pr-molgen-molekulare-konsequenz"/>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence|3.0.0"/>
  </meta>
  <language value="de"/>
  <text>
    <status value="extensions"/>
    <div xml:lang="de" lang="de"><hr/><p><b>German</b></p><hr/><p class="res-header-id"><b>Generated Narrative: Observation mii-exa-molgen-molekulare-konsequenz-cnv-4</b></p><a name="de-mii-exa-molgen-molekulare-konsequenz-cnv-4"> </a><a name="de-hcmii-exa-molgen-molekulare-konsequenz-cnv-4"> </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-molekulare-konsequenz.html">MII PR MolGen Molekulare Konsequenz</a>, <a href="https://simplifier.net/resolve?scope=de.basisprofil.r4@1.6.0&amp;canonical=https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1">https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulare-konsequenz|2027.0.0-ballot.1</a>, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-molecular-consequence.html">Molecular Consequence</a> version: 3.0.0</p></div><p><b>Related artifact</b>: No display for RelatedArtifact  (type: citation; citation: Richards et al., Genet Med. 2015; 17:405-24; url: https://pubmed.ncbi.nlm.nih.gov/25741868/)</p><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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}">Molecular Consequence</span></p><p><b>subject</b>: <a href="Patient-mii-exa-molgen-patient-2.html">Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))</a></p><p><b>effective</b>: 2022-03-16</p><p><b>performer</b>: <a href="Practitioner-mii-exa-molgen-practitioner-lab.html">Practitioner Dr. Daniel Schmidt(official)</a></p><p><b>derivedFrom</b>: <a href="Observation-mii-exa-molgen-variante-cnv-4.html">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs conclusion-string}">Conclusion Text</span></p><p><b>value</b>: onkogene Veränderung mögl. Überexpression</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53037-8}">Genetic variation clinical significance [Imp]</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA26332-9}">Likely pathogenic</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 functional-effect}">Functional Effect</span></p><p><b>value</b>: <span title="Codes:{http://sequenceontology.org SO:0002315}, {http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl C36337}">mögl. Überexpression</span></p></blockquote></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/workflow-relatedArtifact">
    <valueRelatedArtifact>
      <type value="citation"/>
      <citation value="Richards et al., Genet Med. 2015; 17:405-24"/>
      <url value="https://pubmed.ncbi.nlm.nih.gov/25741868/"/>
    </valueRelatedArtifact>
  </extension>
  <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://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
      <code value="molecular-consequence"/>
      <display value="Molecular Consequence"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient-2"/>
  </subject>
  <effectiveDateTime value="2022-03-16"/>
  <performer>🔗 
    <reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
  </performer>
  <derivedFrom>🔗 
    <reference value="Observation/mii-exa-molgen-variante-cnv-4"/>
  </derivedFrom>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="conclusion-string"/>
      </coding>
    </code>
    <valueString value="onkogene Veränderung mögl. Überexpression"/>
  </component>
  <component>
    <code>
      <coding>
        <system value="http://loinc.org"/>
        <code value="53037-8"/>
        <display value="Genetic variation clinical significance [Imp]"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://loinc.org"/>
        <code value="LA26332-9"/>
        <display value="Likely pathogenic"/>
      </coding>
    </valueCodeableConcept>
  </component>
  <component>
    <code>
      <coding>
        <system
                value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs"/>
        <code value="functional-effect"/>
      </coding>
    </code>
    <valueCodeableConcept>
      <coding>
        <system value="http://sequenceontology.org"/>
        <code value="SO:0002315"/>
        <display value="increased_gene_product_level"/>
      </coding>
      <coding>
        <system value="http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl"/>
        <code value="C36337"/>
        <display value="Messenger RNA Overexpression"/>
      </coding>
      <text value="mögl. Überexpression"/>
    </valueCodeableConcept>
  </component>
</Observation>