This page is part of the MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht (v2027.0.0-ballot.1: Release) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, see the Directory of published versions

• Narrative Content
• XML
• JSON

: mii-exa-molgen-befundbericht-srcc

Raw xml | Download

<DiagnosticReport xmlns="http://hl7.org/fhir">
  <id value="mii-exa-molgen-befundbericht-srcc"/>
  <meta>
    <profile
             value="https://www.medizininformatik-initiative.de/fhir/ext/modul-molgen/StructureDefinition/molekulargenetischer-befundbericht|2027.0.0-ballot.1"/>
    <profile
             value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report|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: DiagnosticReport mii-exa-molgen-befundbericht-srcc</b></p><a name="mii-exa-molgen-befundbericht-srcc"> </a><a name="hcmii-exa-molgen-befundbericht-srcc"> </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-molekulargenetischer-befundbericht.html">MII PR MolGen Molekulargenetischer Befundbericht</a> version: 2027.0.0-ballot.1, <a href="http://hl7.org/fhir/uv/genomics-reporting/STU3/StructureDefinition-genomic-report.html">Genomic Report</a> version: 3.0.0</p></div><h2><span title="Codes:{http://loinc.org 51969-4}">Genetic analysis report</span> (<span title="Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}">Genetics</span>) </h2><table class="grid"><tr><td>Subject</td><td>Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))</td></tr><tr><td>Performer</td><td> <a href="Practitioner-mii-exa-molgen-practitioner-lab.html">Practitioner Dr. Daniel Schmidt(official)</a></td></tr></table><p><b>Report Details</b></p><table class="grid"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Flags</b></td><td><b>Relevant Time</b></td></tr><tr><td><a href="Observation-mii-exa-molgen-diagnostische-implikation-srcc-ctnna1.html"><span title="Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs diagnostic-implication}">Diagnostic Implication</span></a></td><td/><td>Final</td><td>2022-11-30</td></tr><tr><td><a href="Observation-mii-exa-molgen-variante-srcc-ctnna1.html"><span title="Codes:{http://loinc.org 69548-6}">Genetic variant assessment</span></a></td><td><span title="Codes:{http://loinc.org LA9633-4}">Present</span></td><td>Final</td><td>2022-11-30</td></tr></table><p>Nachweis der pathogenen Variante im CTNNA1-Gen.</p></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/workflow-supportingInfo">
    <valueReference>🔗 
      <reference
                 value="FamilyMemberHistory/mii-exa-molgen-family-member-history-srcc"/>
    </valueReference>
  </extension>
  <basedOn>🔗 
    <reference value="ServiceRequest/mii-exa-molgen-anforderung-srcc"/>
  </basedOn>
  <status value="final"/>
  <category>
    <coding>
      <system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
      <code value="GE"/>
      <display value="Genetics"/>
    </coding>
  </category>
  <code>
    <coding>
      <system value="http://loinc.org"/>
      <code value="51969-4"/>
      <display value="Genetic analysis report"/>
    </coding>
  </code>
  <subject>🔗 
    <reference value="Patient/mii-exa-molgen-patient-srcc"/>
  </subject>
  <performer>🔗 
    <reference value="Practitioner/mii-exa-molgen-practitioner-lab"/>
  </performer>
  <specimen>🔗 
    <reference value="Specimen/mii-exa-molgen-specimen-srcc"/>
  </specimen>
  <specimen>🔗 
    <reference value="Specimen/mii-exa-molgen-specimen-srcc-2"/>
  </specimen>
  <result>🔗 
    <reference
               value="Observation/mii-exa-molgen-diagnostische-implikation-srcc-ctnna1"/>
  </result>
  <result>🔗 
    <reference value="Observation/mii-exa-molgen-variante-srcc-ctnna1"/>
  </result>
  <conclusion value="Nachweis der pathogenen Variante im CTNNA1-Gen."/>
</DiagnosticReport>