ICHOM FHIR Implementation Guide: Breast Cancer
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This page is part of the ICHOM FHIR Implementation Guide: Breast Cancer (v1.0.0-ballot: STU 1 Ballot 1) based on FHIR R4. . For a full list of available versions, see the Directory of published versions

: Germline Mutation ValueSet - XML Representation

Active as of 2022-12-07

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="GermlineMutationVS"/>
  <text>
    <status value="extensions"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p>This value set includes codes based on the following rules:</p><ul><li>Include these codes as defined in <a href="http://www.snomed.org/"><code>http://snomed.info/sct</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td><a href="http://snomed.info/id/445180002">445180002</a></td><td>Breast cancer genetic marker of susceptibility negative (finding)</td></tr><tr><td><a href="http://snomed.info/id/412734009">412734009</a></td><td>BRCA1 gene mutation positive (finding)</td></tr><tr><td><a href="http://snomed.info/id/412738007">412738007</a></td><td>BRCA2 gene mutation positive (finding)</td></tr><tr><td><a href="http://snomed.info/id/416237000">416237000</a></td><td>Procedure not done</td></tr></table></li><li>Include these codes as defined in <a href="http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html"><code>http://terminology.hl7.org/CodeSystem/v3-NullFlavor</code></a><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td><a href="http://terminology.hl7.org/5.0.0/CodeSystem-v3-NullFlavor.html#v3-NullFlavor-OTH">OTH</a></td><td>other</td><td>**Description:**The actual value is not a member of the set of permitted data values in the constrained value domain of a variable. (e.g., concept not provided by required code system).<br/><br/>**Usage Notes**: This flavor and its specializations are most commonly used with the CD datatype and its flavors. However, it may apply to \*any\* datatype where the constraints of the type are tighter than can be conveyed. For example, a PQ that is for a true measured amount whose units are not supported in UCUM, a need to convey a REAL when the type has been constrained to INT, etc.<br/><br/>With coded datatypes, this null flavor may only be used if the vocabulary binding has a coding strength of CNE. By definition, all local codes and original text are part of the value set if the coding strength is CWE.</td></tr></table></li></ul></div>
  </text>
  <url
       value="http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS"/>
  <version value="1.0.0-ballot"/>
  <name value="GermlineMutationVS"/>
  <title value="Germline Mutation ValueSet"/>
  <status value="active"/>
  <experimental value="false"/>
  <date value="2022-12-07T17:38:21+00:00"/>
  <publisher
             value="HL7 International - Clinical Interoperability Council Group"/>
  <contact>
    <name
          value="HL7 International - Clinical Interoperability Council Group"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/cic"/>
    </telecom>
  </contact>
  <description
               value="Valueset of the genetic mutation predisposing breast cancer"/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <copyright
             value="This value set includes content from SNOMED CT, which is copyright © 2002+ International Health Terminology Standards Development Organisation (IHTSDO), and distributed by agreement between IHTSDO and HL7. Implementer use of SNOMED CT is not covered by this agreement"/>
  <compose>
    <include>
      <system value="http://snomed.info/sct"/>
      <concept>
        <code value="445180002"/>
        <display
                 value="Breast cancer genetic marker of susceptibility negative (finding)"/>
      </concept>
      <concept>
        <code value="412734009"/>
        <display value="BRCA1 gene mutation positive (finding)"/>
      </concept>
      <concept>
        <code value="412738007"/>
        <display value="BRCA2 gene mutation positive (finding)"/>
      </concept>
      <concept>
        <code value="416237000"/>
        <display value="Procedure not done"/>
      </concept>
    </include>
    <include>
      <system value="http://terminology.hl7.org/CodeSystem/v3-NullFlavor"/>
      <concept>
        <code value="OTH"/>
        <display value="other"/>
      </concept>
    </include>
  </compose>
</ValueSet>