Release 4 4B

This page is part of the FHIR Specification (v4.0.1: R4 (v4.3.0: R4B - Mixed Normative and STU ) in it's permanent home (it will always be available at this URL). ). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions . Page versions: R4B R4 R4B R4

Valueset-clinvar.xml

Vocabulary Work Group Maturity Level : N/A Standards Status : Informative

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

Definition for Value SetClin var SetClinVar 

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

<ValueSet xmlns="http://hl7.org/fhir">
  <id value="clinvar"/> 
  <meta> 
    

    <lastUpdated value="2022-05-28T12:47:40.239+10:00"/> 
    <profile value="http://hl7.org/fhir/StructureDefinition/shareablevalueset"/> 
  </meta> 
  <text> 
    <status value="generated"/> 
    <div xmlns="http://www.w3.org/1999/xhtml">
      
      
        NCBI central repository for curating pathogenicity of potentially clinically relevant
           variants

      
      

      <ul> 
        <li> Include all codes defined in 
          <a href="http://www.ncbi.nlm.nih.gov/clinvar">
            <code> http://www.ncbi.nlm.nih.gov/clinvar</code> 
          </a> 
        </li> 
      </ul> 
    </div> 
  </text> 
  <extension url="http://hl7.org/fhir/StructureDefinition/structuredefinition-wg">
    <valueCode value="oo"/> 
  </extension> 
  <url value="http://hl7.org/fhir/ValueSet/clinvar"/> 
  <identifier> 
    <system value="urn:ietf:rfc:3986"/> 
    <value value="urn:oid:2.16.840.1.113883.4.642.3.1041"/> 
  </identifier> 
  

  <version value="4.3.0"/> 
  <name value="ClinVar"/> 
  

  <status value="draft"/> 
  <experimental value="false"/> 
  

  <publisher value="HL7 International - FHIR-Infrastructure"/> 
  <contact> 
    <telecom> 
      <system value="url"/> 
      <value value="http://hl7.org/fhir"/> 
    </telecom> 
  </contact> 
  <description value="NCBI central repository for curating pathogenicity of potentially clinically relevant
   variants"/> 
  <compose> 
    <include> 
      <system value="http://www.ncbi.nlm.nih.gov/clinvar"/> 
    </include> 
  </compose> 


</

ValueSet

>

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.