HL7 Terminology (THO)
4.0.0 - Publication World

This page is part of the HL7 Terminology (v4.0.0: Release) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

CodeSystem: Genetic Sequence polymorphism database

Official URL: http://www.ncbi.nlm.nih.gov/projects/SNP Version: 2.0.1
Retired as of 2021-11-09 Responsible: TBD - External Body Computable Name: DbSNP
Other Identifiers: : urn:oid:2.16.840.1.113883.6.284

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/

This Code system is referenced in the content logical definition of the following value sets:

This code system http://www.ncbi.nlm.nih.gov/projects/SNP defines many codes, but they are not represented here


History

DateActionAuthorCustodianComment
2022-07-22reviseJessica BotaTSMGAdd default value of TRUE for code systems missing caseSensitive element unless otherwise specified; UP-322
2021-11-09reviseReuben DanielsHTACode System Metadata Record being retired;UP-251