Connectathon 11 Snapshot

This page is part of the FHIR Specification (v1.2.0: STU 3 Draft). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions

Obs-genetics-example3-bcr1 and bcr2 sequencing with FamilyHistory -2.xml

Raw XML (canonical form)

BRACAnalysis -2 (id = "ob-genetics-3-2")

<Observation xmlns="http://hl7.org/fhir">
  <id value="ob-genetics-3-2"/>
  <text><status value="generated"/><div xmlns="http://www.w3.org/1999/xhtml"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: ob-genetics-3-2</p><p><b>status</b>: final</p><p><b>code</b>: BRCA2 gene mutation analysis <span>(Details : {LOINC code '38530-2' = 'BCRA2 gene mutations found [Identifier] in Blood or
           Tissue by Molecular genetics method Nominal', given as 'BRCA2 gene mutation analysis'})</span></p><p><b>subject</b>: <a>Marry Chalmers(MRN: 12345)</a></p><p><b>effective</b>: 26/05/2015 3:30:10 PM</p><p><b>value</b>: Positive <span>(Details : {SNOMED CT code '10828004' = '10828004', given as 'Positive'})</span></p><p><b>method</b>: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc <span>(Details : {http://www.ncbi.nlm.nih.gov/gtr/ code 'GTR000521311.1' = '??', given as 'BRACAnalysis
           CDx Offered by Myriad Genetic Laboratories, Inc'})</span></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>Pathogenic <span>(Details : {[not stated] code 'LA6668-3' = '??', given as 'Pathogenic'})</span></td></tr></table></div></text><extension url="http://hl7.org/fhir/StructureDefinition/observation-geneticsSequence">
      <valueReference>
          <reference value="#off2"/>
      </valueReference>
  </extension>
  <extension url="http://hl7.org/fhir/StructureDefinition/observation-geneticsVariationHGVS">
      <extension url="genomeBuild">
          <valueCodeableConcept>
              <text value="GRCh 38"/>
          </valueCodeableConcept>
      </extension>
      <extension url="name">
          <valueCodeableConcept>
              <text value="185delAG"/>
          </valueCodeableConcept>
      </extension>
  </extension>
  
  <status value="final"/>
  <code>
      <coding>
          <system value="http://loinc.org"/>
          <code value="38530-2"/>
          <display value="BRCA2 gene mutation analysis"/>
      </coding>
  </code>
  <subject>
      <reference value="Patient/example"/>
      <display value="Marry Chalmers(MRN: 12345)"/>
  </subject>
  <effectiveDateTime value="2015-05-26T15:30:10+01:00"/>
  <valueCodeableConcept>
      <coding>
          <system value="http://snomed.info/sct"/>
          <code value="10828004"/>
          <display value="Positive"/>
      </coding>
  </valueCodeableConcept>
  
  <method>
      <coding>
          <system value="http://www.ncbi.nlm.nih.gov/gtr/"/>
          <code value="GTR000521311.1"/>
          <display value="BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc"/>
      </coding>
  </method>
  <component>
      <code>
          <coding>
              <system value="http://loinc.org"/>
              <code value="53037-8"/>
              <display value="Genetic disease sequence variation interpretation"/>
          </coding>
      </code>
      <valueCodeableConcept>
          <coding>
              <code value="LA6668-3"/>
              <display value="Pathogenic"/>
          </coding>
      </valueCodeableConcept>
  </component>
</Observation>

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.