Obs-genetics-example3-mutationlist.xml

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

<Observation xmlns="http://hl7.org/fhir">
  <id value="genetics-example3-mutationlist"/>
  <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</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></div></text><extension url="http://hl7.org/fhir/StructureDefinition/geneticsGenomeBuild">
    <valueString value="GRCh 37"/>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsGene">
    <valueCodeableConcept>
      <coding>
        <system value="http://www.genenames.org"/>
        <code value="5244"/>
        <display value="ABCB4"/>
      </coding>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsSpecies">
    <valueCodeableConcept>
        <coding>
            <system value="http://snomed.info/sct"/>
            <code value="337915000"/> 
        </coding>
        <text value="Homo sapiens"/>
    </valueCodeableConcept>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsResult">
      <valueReference>
          <reference value="genetics-example3-mutationlist-1"/>
      </valueReference>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsResult">
      <valueReference>
          <reference value="genetics-example3-mutationlist-2"/>
      </valueReference>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsResult">
      <valueReference>
          <reference value="genetics-example3-mutationlist-3"/>
      </valueReference>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/geneticsResult">
      <valueReference>
          <reference value="genetics-example3-mutationlist-4"/>
      </valueReference>
  </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>
</Observation>