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Example GenomicStudy/groupDenovoFamily (XML)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: Patient

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

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Group - A group of a trio study including proband, mother, and father (id = "groupDenovoFamily")

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

<Group xmlns="http://hl7.org/fhir">
  <id value="groupDenovoFamily"/> 
  <text> 
    <status value="additional"/> 
    <div xmlns="http://www.w3.org/1999/xhtml">
      <p>  Denovo mutation study members </p> 
      <ul> 
        <li>  Patient: Child Junior Doe</li> 
        <li>  Mother: Jane Mother Doe</li> 
        <li>  Father: John Father Doe</li> 
      </ul> 
    </div> 
  </text> 
  <identifier> 
    <use value="temp"/> 
    <type> 
      <coding> 
        <system value="http://terminology.hl7.org/CodeSystem/v2-0203"/> 
        <code value="MR"/> 
        <display value="Medical record number"/> 
      </coding> 
    </type> 
    <system value="http://www.somesystemabc.net/identifiers/groups"/> 
    <value value="11111"/> 
    <period> 
      <start value="2021-01-01"/> 
    </period> 
    <assigner> 
      <display value="Child Hospital"/> 
    </assigner> 
  </identifier> 
  <name value="Denovo Mutation Example Group"/>   <!--   0..1 Label for Group   -->
  <status value="active"/> 
  <description value="[markdown]"/>   <!--   0..1 Natural language description of the group   -->
  <type value="person"/> 
  <membership value="enumerated"/>   <!--   1..1 definitional | enumerated   -->
    <!--   <code></code>   -->
  <quantity value="3"/> 
  <managingEntity> 
    <reference value="Practitioner/practitioner02"/> 
  </managingEntity> 
  <member> 
    <entity> 
      <reference value="Patient/proband"/> 
    </entity> 
    <period> 
      <start value="2021-01-01T01:01:10-06:00"/> 
    </period> 
    <inactive value="false"/> 
  </member> 
  <member> 
    <entity> 
      <reference value="RelatedPerson/relatedPersonDenovoMother"/> 
    </entity> 
    <period> 
    <start value="2021-01-01T01:01:10-06:00"/> 
    </period> 
    <inactive value="false"/> 
  </member> 
  <member> 
    <entity> 
      <reference value="RelatedPerson/relatedPersonDenovoFather"/> 
    </entity> 
    <period> 
      <start value="2021-01-01T01:01:10-06:00"/> 
    </period> 
    <inactive value="false"/> 
  </member> 
</Group> 

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.