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Profile to support capturing pedigree within family history for genetics analysis

Adds additional information to a family history supporting both the capture of mother/father relationships as well as additional observations necessary to enable genetics-based risk analysis for patients

This profile was published on Wed, Oct 2, 2013 00:00+1000 as a draft by HL7 International - Clinical Genomics WG , and profiles the Resource

The id of this profile is

Content 

 doco
<!-- Resources -->
<!-- GeneticPedigreeFamilyHistory -->
<FamilyHistory xmlns="http://hl7.org/fhir">
 <!-- from Element: extension -->
 <extension><!-- 0..* Extension Additional Content defined by implementations --></extension>
 <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored --></modifierExtension>
 <text><!-- 0..1 Narrative Text summary of the resource, for human interpretation --></text>
 <contained><!-- 0..* Resource Contained, inline Resources --></contained>
 <identifier><!-- 0..* Identifier External Id(s) for this record --></identifier>
 <subject><!-- 1..1 Resource(Patient) Patient history is about --></subject>
 <note value="[string]"/><!-- 0..1 Additional details not covered elsewhere -->
 <relation>  <!-- 1..* Relative described by history -->
  <!--"Parent":   -->
  <extension> 0..* @relationParent  <!-- 0..* Additional Content defined by implementations -->
   <!--"ParentType":   -->
   <extension><!-- 1..1 @relationParent.type Additional Content defined by implementations --></extension>
   <!--"ParentIdentifier":   -->
   <extension><!-- 1..1 @relationParent.identifier Additional Content defined by implementations --></extension>
  </extension>
  <!--"Observation":   -->
  <extension><!-- 0..* @relationObservation Additional Content defined by implementations --></extension>
  <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored --></modifierExtension>
  <name value="[string]"/><!-- 0..1 The family member described -->
  <relationship><!-- 1..1 CodeableConcept Relationship to the subject --></relationship>
  <born[x]><!-- 0..1 Period|date|string (approximate) date of birth --></born[x]>
  <deceased[x]><!-- 0..1 boolean|Age|Range|string Dead? How old/when? --></deceased[x]>
  <note value="[string]"/><!-- 0..1 General note about related person -->
  <condition>  <!-- 0..* Condition that the related person had -->
   <extension><!-- 0..* Extension Additional Content defined by implementations --></extension>
   <modifierExtension><!-- 0..* Extension Extensions that cannot be ignored --></modifierExtension>
   <type><!-- 1..1 CodeableConcept Condition suffered by relation --></type>
   <outcome><!-- 0..1 CodeableConcept deceased | permanent disability | etc. --></outcome>
   <onset[x]><!-- 0..1 Age|Range|string When condition first manifested --></onset[x]>
   <note value="[string]"/><!-- 0..1 Extra information about condition -->
  </condition>
 </relation>
</FamilyHistory>

<!-- Extensions -->
<extension> <!--  0..* Context: Resource = FamilyHistory.relation -->
 <url value="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent"/>
 <!-- Extensions: #relationParent.type, #relationParent.identifier --> 
</extension>

<extension> <!--  1..1 Context: Extension = http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent -->
 <url value="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type"/>
 <valueCodeableConcept><!--  0..1  CodeableConcept mother | father | adoptive mother | etc. --> </valueCodeableConcept>
</extension>

<extension> <!--  1..1 Context: Extension = http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent -->
 <url value="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier"/>
 <valueUri value="[uri]"/><!-- Link to parent relative(s) -->
</extension>

<extension> <!--  0..* Context: Resource = FamilyHistory.relation -->
 <url value="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationObservation"/>
 <valueResourceReference><!--  0..1  Resource(Observation) Genetic markers, ethnicity, etc. --> </valueResourceReference>
</extension>

This profile as XML or JSON.

Terminology Bindings

PathDefinitionTypeReference
[].extensions.relationParent.type Parental relationship typesIncompletehttp://hl7.org/fhir/vs/parent-relationship-codes

.

Example

Example Instance "Example for Profile Profile to support capturing pedigree within family history for genetics analysis"

<FamilyHistory xmlns="http://hl7.org/fhir">
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml">To do</div>
  </text>
  <subject>
    <reference value="Patient/example"/>
    <display value="Peter Patient">
      <!--   Should be 'Bob', but didn't make sense to define a new patient   -->
    </display>
  </subject>
  <relation id="1">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <name value="Dave"/>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="FTH"/>
        <display value="father"/>
      </coding>
    </relationship>
  </relation>
  <relation id="2">
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="GRFTH"/>
        <display value="grandfather"/>
      </coding>
    </relationship>
  </relation>
  <relation id="3">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PUNCLE"/>
        <display value="paternal uncle"/>
      </coding>
    </relationship>
  </relation>
  <relation id="4">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PUNCLE"/>
        <display value="paternal uncle"/>
      </coding>
    </relationship>
  </relation>
  <relation id="5">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <name value="Eve"/>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PAUNT"/>
        <display value="paternal aunt"/>
      </coding>
    </relationship>
  </relation>
  <relation id="6">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PAUNT"/>
        <display value="paternal aunt"/>
      </coding>
    </relationship>
  </relation>
  <relation id="7">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="FTH"/>
            <display value="father"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#2"/>
      </extension>
    </extension>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PAUNT"/>
        <display value="paternal aunt"/>
      </coding>
    </relationship>
  </relation>
  <relation id="8">
    <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent">
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.type">
        <valueCodeableConcept>
          <coding>
            <system value="http://hl7.org/fhir/v3/RoleCode"/>
            <code value="MTH"/>
            <display value="mother"/>
          </coding>
        </valueCodeableConcept>
      </extension>
      <extension url="http://hl7.org/fhir/Profile/familyhistory-genetics-pedigree#relationParent.identifier">
        <valueUri value="#5"/>
      </extension>
    </extension>
    <name value="Alice"/>
    <relationship>
      <coding>
        <system value="http://hl7.org/fhir/v3/RoleCode"/>
        <code value="PCOUSN"/>
        <display value="paternal cousin"/>
      </coding>
    </relationship>
  </relation>
</FamilyHistory>