Release 4B Snapshot #1

This page is part of the FHIR Specification (v4.3.0-snapshot1: Release 4B Snapshot #1). The current version which supercedes this version is 5.0.0. For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R3

Observation-example-phenotype.xml

Orders and Observations Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Device, Encounter, Patient, Practitioner, RelatedPerson

Raw XML (canonical form + also see XML Format Specification)

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Example of phenotype data (id = "example-phenotype")

<?xml version="1.0" encoding="UTF-8"?>

<Observation xmlns="http://hl7.org/fhir">
  <id value="example-phenotype"/> 
  <text> <status value="extensions"/> <div xmlns="http://www.w3.org/1999/xhtml"><p> <b> Generated Narrative</b> </p> <div> <p> Resource &quot;example-phenotype&quot; </p> </div> <p> <b> Gene</b> : CYP2C9 <span>  (<a> HUGO Gene Nomenclature</a> #2623)</span> </p> <p> <b> status</b> : final</p> <p> <b> code</b> : The material on this page will be removed in a future release. This content is deprecated
         and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting
         Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance.
         CYP2C9 gene product metabolic activity interpretation <span>  (<a> LOINC</a> #79716-7)</span> </p> <p> <b> subject</b> : <a> Patient/727127: J*********** C***********</a> </p> <p> <b> issued</b> : 4 Apr. 2013, 1:30:10 am</p> <p> <b> value</b> : Normal metabolizer <span>  (<a> LOINC</a> #LA25391-6)</span> </p> <p> <b> specimen</b> : <a> Specimen/genetics-example1-somatic: Molecular Specimen ID: MLD45-Z4-1234</a> </p> <p> <b> derivedFrom</b> : <a> Observation/example-diplotype1</a> </p> </div> </text> <extension url="http://hl7.org/fhir/StructureDefinition/observation-geneticsGene">
    <valueCodeableConcept> 
      <coding> 
        <system value="http://www.genenames.org"/> 
        <code value="2623"/> 
        <display value="CYP2C9"/> 
      </coding> 
    </valueCodeableConcept> 
  </extension> 
  <status value="final"/> 
  <code> 
    <coding> 
      <system value="http://loinc.org"/> 
      <code value="79716-7"/> 
      <display value="The material on this page will be removed in a future release. This content is deprecated
       and SHOULD NOT be used. Implementers are instead directed to the ([Genomics Reporting
       Implementation Guide](http://hl7.org/fhir/uv/genomics-reporting/index.html)) for guidance.
       CYP2C9 gene product metabolic activity interpretation"/> 
    </coding> 
  </code> 
  <subject> 
    <reference value="Patient/727127"/> 
    <display value="J*********** C***********"/> 
  </subject> 
  <issued value="2013-04-03T15:30:10+01:00"/> 
  <valueCodeableConcept> 
    <coding> 
      <system value="http://loinc.org"/> 
      <code value="LA25391-6"/> 
      <display value="Normal metabolizer"/> 
    </coding> 
  </valueCodeableConcept> 
  <specimen> 
    <reference value="Specimen/genetics-example1-somatic"/> 
    <display value="Molecular Specimen ID: MLD45-Z4-1234"/> 
  </specimen> 
  <derivedFrom> 
    <reference value="Observation/example-diplotype1"/> 
  </derivedFrom> 
</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.