v3-dbSNP
type: NamingSystem
node role: treeRoot
id:
  v: v3-dbSNP
language:
  v: en
text:
  status:
    v: generated
  div:
    v: Generated Narrative: NamingSystem v3-dbSNP Summary Defining URL http://terminology.hl7.org/NamingSystem/v3-dbSNP Version 2.0.1 Name DbSNP Title Genetic Sequence polymorphism database Status retired Definition 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/ Publisher National Center for Biotechnology Information Identifiers Type Value Preferred OID 2.16.840.1.113883.6.284 true URI http://www.ncbi.nlm.nih.gov/projects/SNP true
url:
  v: http://terminology.hl7.org/NamingSystem/v3-dbSNP
version:
  v: 2.0.1
name:
  v: DbSNP
title:
  v: Genetic Sequence polymorphism database
status:
  v: retired
kind:
  v: codesystem
date:
  v: 2021-11-09T10:00:00+10:00
publisher:
  v: National Center for Biotechnology Information
responsible:
  v: National Center for Biotechnology Information
description:
  v: 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/
unique id:
  type:
    v: oid
  value:
    v: 2.16.840.1.113883.6.284
  preferred:
    v: true
unique id:
  type:
    v: uri
  value:
    v: http://www.ncbi.nlm.nih.gov/projects/SNP
  preferred:
    v: true