Reference record for OID 2.16.840.1.113883.6.282

parent

2.16.840.1.113883.6 (externalCodeSystems)

node code

282

node name

hgvs

dot oid

2.16.840.1.113883.6.282

asn1 oid

{joint-iso-itu-t(2) country(16) us(840) organization(1) hl7(113883) externalCodeSystems(6) hgvs(282)}

{joint-iso-ccitt(2) country(16) us(840) organization(1) hl7(113883) externalCodeSystems(6) hgvs(282)}

iri oid

/joint-iso-itu-t/country/us/organization/hl7/externalCodeSystems/hgvs

/joint-iso-ccitt/country/us/organization/hl7/externalCodeSystems/hgvs

iri by oid_info

/Country/840/1/113883/6/282

creation date

May 2, 2009

Description by oid_info

HGVS nomenclatures are the guidelines for mutation nomenclature made by the Human Genome Variation Society
View at oid-info.com

Information by oid_info

HGVS nomenclature can be used with the HL7 coded data type (code data type that accepts expression data, or a coded expression data type). This coded data type should be able to distinguish expressions in HGVS nomenclature from coded concepts. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, HGVS nomenclature can be used to as the observation values for DNA sequence variations. For example, OBX|1|CWE|48004-6^DNA Sequence Variation^LN||c.1129C>T^^HGVS|

Versioning information:
The HGVS nomenclature for the description of sequence variants was last modified Feb 20, 2008.
The HGVS nomenclature for the description of protein sequence variants was last modified May 12, 2007.
The HGVS nomenclature for the description of DNA sequence variants was last modified June 15, 2007
The HGVS nomenclature for the description of RNA sequence variants was last modified May 12, 2007

HGVS nomenclatures can be used freely by the public

Automatically extracted from Health Level 7 (HL7) OID Registry.

First Registration Authority

Ms. Rania Horaitis, Executive Secretary

Address: HUGO Gene Nomenclature Committee,HUGO Gene Nomenclature Committee
Gene Nomenclature Committee (HGNC)EMBL Outstation - HinxtonEuropean Bioinformatics Institute Wellcome Trust Genome CampusHinxton, Cambridge, CB10 1SDUnited Kingdom

Phone: + 61 3 8344 1831

Current Registration Authority (recovered by parent 2.16.840.1)

Karen Hughes

Brothers (215)

To many brothers! Only 100 nearest brothers are shown.