HL7 Terminology
2.0.19 - UTG Continuous Process Integration (ci build)

HL7 Terminology, published by HL7 International - Vocabulary Work Group. This is not an authorized publication; it is the continuous build for version 2.0.19). This version is based on the current content of https://github.com/HL7/UTG/ and changes regularly. See the Directory of published versions

CodeSystem: Genetic Sequence polymorphism database


Defining URL:http://www.ncbi.nlm.nih.gov/projects/SNP
Title:Genetic Sequence polymorphism database
Status:Active as of 2019-03-20T00:00:00-04:00

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


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:TBD - External Body
Content:Not Present: None of the concepts defined by the code system are included in the code system resource
OID:2.16.840.1.113883.6.284 (for OID based terminology systems)
Source Resource:XML / JSON / Turtle

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