Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

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: Molecular Definition Representation Focus

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<CodeSystem xmlns="http://hl7.org/fhir">
  <id value="moleculardefinition-representation-focus"/>
  <meta>
    <lastUpdated value="2025-01-30T00:00:00Z"/>
    <profile
             value="http://hl7.org/fhir/StructureDefinition/shareablecodesystem"/>
  </meta>
  <language value="en"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: CodeSystem moleculardefinition-representation-focus</b></p><a name="moleculardefinition-representation-focus"> </a><a name="hcmoleculardefinition-representation-focus"> </a><div style="display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%"><p style="margin-bottom: 0px">Last updated: 2025-01-30 00:00:00+0000</p><p style="margin-bottom: 0px">Profile: <a href="http://hl7.org/fhir/R5/shareablecodesystem.html">Shareable CodeSystem</a></p></div><p>This case-sensitive code system <code>http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus</code> defines the following codes:</p><table class="codes"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td><td><b>Definition</b></td></tr><tr><td style="white-space:nowrap">allele-state<a name="moleculardefinition-representation-focus-allele-state"> </a></td><td>Allele State</td><td>The representation defines the state of an allele at a genomic location.</td></tr><tr><td style="white-space:nowrap">context-state<a name="moleculardefinition-representation-focus-context-state"> </a></td><td>Context State</td><td>The representation defines the state of the genomic sequence context or background for the allele.</td></tr><tr><td style="white-space:nowrap">reference-state<a name="moleculardefinition-representation-focus-reference-state"> </a></td><td>Reference State</td><td>The representation defines the reference state of the sequence at a genomic location.</td></tr><tr><td style="white-space:nowrap">alternative-state<a name="moleculardefinition-representation-focus-alternative-state"> </a></td><td>Alternative State</td><td>The representation defines an alternative state of the sequence at a genomic location.</td></tr></table></div>
  </text>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="cg"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status">
    <valueCode value="informative"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm">
    <valueInteger value="1"/>
  </extension>
  <url
       value="http://hl7.org/fhir/uv/cg-incubator/CodeSystem/moleculardefinition-representation-focus"/>
  <identifier>
    <system value="urn:ietf:rfc:3986"/>
    <value value="urn:oid:2.16.840.1.113883.4.642.4.2050"/>
  </identifier>
  <version value="0.1.0-ci-build"/>
  <name value="MolecularDefinitionRepresentationFocus"/>
  <title value="Molecular Definition Representation Focus"/>
  <status value="draft"/>
  <experimental value="true"/>
  <date value="2025-01-30"/>
  <publisher value="HL7 International / Clinical Genomics"/>
  <contact>
    <name value="HL7 International / Clinical Genomics"/>
    <telecom>
      <system value="url"/>
      <value value="http://www.hl7.org/Special/committees/clingenomics"/>
    </telecom>
    <telecom>
      <system value="email"/>
      <value value="clingenomics@lists.hl7.org"/>
    </telecom>
  </contact>
  <description
               value="The domain concept that is the focus of the representation in a MolecularDefinition. This element is used to disambiguate the representations of different alleles or states at a given location."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="001"/>
      <display value="World"/>
    </coding>
  </jurisdiction>
  <caseSensitive value="true"/>
  <valueSet
            value="http://hl7.org/fhir/uv/cg-incubator/ValueSet/moleculardefinition-representation-focus"/>
  <content value="complete"/>
  <concept>
    <code value="allele-state"/>
    <display value="Allele State"/>
    <definition
                value="The representation defines the state of an allele at a genomic location."/>
  </concept>
  <concept>
    <code value="context-state"/>
    <display value="Context State"/>
    <definition
                value="The representation defines the state of the genomic sequence context or background for the allele."/>
  </concept>
  <concept>
    <code value="reference-state"/>
    <display value="Reference State"/>
    <definition
                value="The representation defines the reference state of the sequence at a genomic location."/>
  </concept>
  <concept>
    <code value="alternative-state"/>
    <display value="Alternative State"/>
    <definition
                value="The representation defines an alternative state of the sequence at a genomic location."/>
  </concept>
</CodeSystem>