HL7 Terminology
2.0.0 - Publication

This page is part of the HL7 Terminology (v2.0.0: Release) based on FHIR R4. The current version which supercedes this version is 2.1.0. For a full list of available versions, see the Directory of published versions

: Genetic Sequence polymorphism database - XML Representation

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<NamingSystem xmlns="http://hl7.org/fhir">
  <id value="v3-dbSNP"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><h3>Summary</h3><table class="grid"><tr><td>Defining URL</td><td>http://terminology.hl7.org/NamingSystem/v3-dbSNP</td></tr><tr><td>Name</td><td>DbSNP</td></tr><tr><td>Status</td><td>active</td></tr><tr><td>Definition</td><td><div><p>In collaboration with the National Human Genome Research Institute, The National Center for Biotechnology Information has established the dbSNP database to serve as a central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms.</p>
<p>The entries in the dbSNP database can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, dbSNP entries can be used to as the observation values for DNA sequence variation identifiers. For example, OBX|1|CWE|48004-6^DNA Sequence Variation Identifier^LN||rs55538123^^dbSNP</p>
<p>Versioning is identified by the build id. A new build is released approximately every six months or every year. The latest build id is 130, and the dbSNP web query for built 130 was available on Apr 30, 2009.</p>
<p>dbSNP is a database that can be used freely by the public.</p>
<p>More information may be fouond at: http://www.ncbi.nlm.nih.gov/projects/SNP/</p>
</div></td></tr><tr><td>Publisher</td><td>National Center for Biotechnology Information</td></tr></table><h3>Identifiers</h3><table class="grid"><tr><td><b>Type</b></td><td><b>Value</b></td><td><b>Preferred</b></td></tr><tr><td>OID</td><td>2.16.840.1.113883.6.284</td><td>true</td></tr><tr><td>URI</td><td>http://www.ncbi.nlm.nih.gov/projects/SNP</td><td>true</td></tr></table></div>
  </text>
  <extension url="http://hl7.org/fhir/tools/StructureDefinition/extension-title">
    <valueString value="Genetic Sequence polymorphism database"/>
  </extension>
  <extension
             url="http://hl7.org/fhir/5.0/StructureDefinition/extension-NamingSystem.url">
    <valueUri value="http://terminology.hl7.org/NamingSystem/v3-dbSNP"/>
  </extension>
  <extension
             url="http://terminology.hl7.org/StructureDefinition/ext-namingsystem-version">
    <valueString value="2.0.1"/>
  </extension>
  <name value="DbSNP"/>
  <status value="active"/>
  <kind value="codesystem"/>
  <date value="2019-03-20T00:00:00-04:00"/>
  <publisher value="National Center for Biotechnology Information"/>
  <responsible value="National Center for Biotechnology Information"/>
  <description
               value="In collaboration with the National Human Genome Research Institute, The National Center for Biotechnology Information has established the dbSNP database to serve as a central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms.

The entries in the dbSNP database can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, dbSNP entries can be used to as the observation values for DNA sequence variation identifiers. For example, OBX|1|CWE|48004-6^DNA Sequence Variation Identifier^LN||rs55538123^^dbSNP

Versioning is identified by the build id. A new build is released approximately every six months or every year. The latest build id is 130, and the dbSNP web query for built 130 was available on Apr 30, 2009.

dbSNP is a database that can be used freely by the public.

More information may be fouond at: http://www.ncbi.nlm.nih.gov/projects/SNP/"/>
  <uniqueId>
    <type value="oid"/>
    <value value="2.16.840.1.113883.6.284"/>
    <preferred value="true"/>
  </uniqueId>
  <uniqueId>
    <type value="uri"/>
    <value value="http://www.ncbi.nlm.nih.gov/projects/SNP"/>
    <preferred value="true"/>
  </uniqueId>
</NamingSystem>