Obs-genetics-example3-mutationlist-1.xml

ABCB4 gene mutation analysis - variant 1 (id = "genetics-example3-mutationlist-1")

<Observation xmlns="http://hl7.org/fhir">
  <id value="genetics-example3-mutationlist-1"/>

  <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: genetics-example3-mutationlist-1</p><p><b>status</b>: final</p><p><b>code</b>: ABCB4 gene mutation analysis <span>(Details : {LOINC code '49874-1' = 'ABCB4 gene mutation analysis in Blood or Tissue by
           Molecular genetics method Narrative', given as 'ABCB4 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Molecular Lab Patient ID: HOSP-23456</a></p><p><b>performer</b>: <a>Molecular Diagnostic Laboratory</a></p><p><b>specimen</b>: <a>Molecular Specimen ID: MLD45-Z4-1234</a></p><h3>Components</h3><table><tr><td>-</td><td><b>Code</b></td><td><b>Value[x]</b></td></tr><tr><td>*</td><td>Genetic disease sequence variation interpretation <span>(Details : {LOINC code '53037-8' = 'Genetic disease sequence variation interpretation
               [interpretation] in Blood or Tissue by Molecular genetics method', given as 'Genetic disease
               sequence variation interpretation'})</span></td><td>Unknown significance <span>(Details : {http://www.genenames.org code 'LA6682-4' = '??', given as 'Unknown significance'})</span></td></tr></table></div></text><extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNASequenceVariation">
    <valueString value="c.2708T&gt;C"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsDNARegionName">
    <valueString value="Exon 23"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsAminoAcidChange">
    <valueString value="p.R969H"/>
  </extension>
  
  <status value="final"/>
  <code>
      <coding>
          <system value="http://loinc.org"/>
          <code value="49874-1"/>
          <display value="ABCB4 gene mutation analysis"/>
      </coding>
  </code>
  <subject>
    <reference value="Patient/genetics-example2"/>
    <display value="Molecular Lab Patient ID: HOSP-23456"/>
  </subject>
  <performer>
    <reference value="Practitioner/genetics-example2"/>
    <display value="Molecular Diagnostic Laboratory"/>
  </performer>
  <specimen>
    <reference value="Specimen/genetics-example2"/>
    <display value="Molecular Specimen ID: MLD45-Z4-1234"/>
  </specimen>
  
  <component>
      <code>
          <coding>
              <system value="http://loinc.org"/>
              <code value="53037-8"/>
              <display value="Genetic disease sequence variation interpretation"/>
          </coding>
      </code>
      <valueCodeableConcept>
          <coding>
              <system value="http://www.genenames.org"/>
              <code value="LA6682-4"/>
              <display value="Unknown significance"/>
          </coding>
      </valueCodeableConcept>
  </component>


</Observation>