ICHOM Patient Centered Outcomes Measure Set for Breast Cancer, published by HL7 International - Clinical Interoperability Council Group. This is not an authorized publication; it is the continuous build for version 1.0.0). This version is based on the current content of https://github.com/HL7/fhir-ichom-breast-cancer-ig/ and changes regularly. See the Directory of published versions
: Germline Mutation ValueSet - XML Representation
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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 not detected (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 detected (finding)</td></tr><tr><td><a href="http://snomed.info/id/416237000">416237000</a></td><td>Procedure not done (situation)</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>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
<valueInteger value="2">
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
<valueCanonical
value="http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"/>
</extension>
</valueInteger>
</extension>
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
<valueCode value="trial-use">
<extension
url="http://hl7.org/fhir/StructureDefinition/structuredefinition-conformance-derivedFrom">
<valueCanonical
value="http://hl7.org/fhir/uv/ichom-breast-cancer/ImplementationGuide/hl7.fhir.uv.ichom-breast-cancer"/>
</extension>
</valueCode>
</extension>
<url
value="http://hl7.org/fhir/uv/ichom-breast-cancer/ValueSet/GermlineMutationVS"/>
<version value="1.0.0"/>
<name value="GermlineMutationVS"/>
<title value="Germline Mutation ValueSet"/>
<status value="active"/>
<experimental value="false"/>
<date value="2023-08-21T16:37:24+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 not detected (finding)"/>
</concept>
<concept>
<code value="412734009"/>
<display value="BRCA1 gene mutation positive (finding)"/>
</concept>
<concept>
<code value="412738007"/>
<display value="BRCA2 gene mutation detected (finding)"/>
</concept>
<concept>
<code value="416237000"/>
<display value="Procedure not done (situation)"/>
</concept>
</include>
<include>
<system value="http://terminology.hl7.org/CodeSystem/v3-NullFlavor"/>
<concept>
<code value="OTH"/>
<display value="other"/>
</concept>
</include>
</compose>
</ValueSet>