HL7 Terminology (THO)
5.2.0 - Publication
HL7 Terminology (THO)
5.2.0 - Publication
This page is part of the HL7 Terminology (v5.2.0: Release) based on FHIR R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions 
| Official URL: http://terminology.hl7.org/NamingSystem/v3-dbSNP | Version: 2.0.1 | |||
| Retired as of 2021-11-09 | Responsible: National Center for Biotechnology Information | Computable Name: DbSNP | ||
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/
| 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 |
| Type | Value | Preferred |
| OID | 2.16.840.1.113883.6.284 | true |
| URI | http://www.ncbi.nlm.nih.gov/projects/SNP | true |
History
| Date | Action | Custodian | Author | Comment |
| 2021-11-09 | revise | HTA | Reuben Daniels | Code System Identification Record being retired;UP-251 |
| 2020-06-12 | revise | Vocabulary WG | Ted Klein | Fixed title extension URL to be consistent with latest Publisher |
IG © 2020+ HL7 International - Vocabulary Work Group. Package hl7.terminology#5.2.0 based on FHIR 4.0.1. Generated 2023-07-17
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