48004-6  DNA change (c.HGVS)DNA change (c.HGVS)DNA change: Find: Pt: Bld/​Tiss: Nom: Molgen  

NAME
  Fully-Specified Name: 
Component   Property   Time   System   Scale   Method
DNA change  Find  Pt  Bld/Tiss  Nom  Molgen
  Long Common Name:  DNA change (c.HGVS)
  Shortname:  DNA change
  DisplayName:  DNA change Molgen Nom (Bld/Tiss)

TERM DEFINITION/DESCRIPTION(S)
  Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
 
 

BASIC ATTRIBUTES
  Class/Type: HL7.GENETICS/Lab
  First Released in Version: 2.21
  Last Updated in Version: 2.64
  Order vs. Obs.: Observation
  Status: Active.
Change Reason: Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG.

EXAMPLE ANSWERS
  c.509_511delGGA (insertion/deletion), m.2543G>A (substitution), c.1075A (Wild Type)

MEMBER OF THESE PANELS
  48014-5   Sequence variation panel - Blood or Tissue by Molecular genetics methodSequence variation panel - Blood or Tissue by Molecular genetics methodSequence variation panel: -: Pt: Bld/​Tiss: -: Molgen
  48015-2   Individual allele panelIndividual allele panelIndividual allele panel: -: Pt: Bld/​Tiss: -: Molgen
  51960-3   DNA marker results panelDNA marker results panelDNA marker results panel: -: Pt: Bld/​Tiss: -: Molgen
  51975-1   Individual allele results panelIndividual allele results panelIndividual allele results panel: -: Pt: Bld/​Tiss: -: Molgen
  53044-4   DNA marker identified panelDNA marker identified panelDNA marker identified panel: -: Pt: Bld/​Tiss: -: Molgen
  55233-1   Genetic analysis master panelGenetic analysis master panelGenetic analysis master panel: -: Pt: Bld/​Tiss: -: Molgen
  77313-5   DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics methodDNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics methodDNA analysis discrete sequence variation basic associated observations panel: -: Pt: Bld/​Tiss: -: Molgen
  81247-9   Master HL7 genetic variant reporting panelMaster HL7 genetic variant reporting panelMaster HL7 genetic variant reporting panel: -: Pt: ^Patient: -:

PARTS

Part Type    Part No.  Part Name   
Component   LP62061-4  DNA change 
Property   LP6813-2  Find   [Finding] 
Time   LP6960-1  Pt   [Point in time (spot)] 
System   LP7061-7  Bld/Tiss   [Blood or Tissue] 
Scale   LP7750-5  Nom 
Method   LP6404-0  Molgen   [Molecular genetics] 
Fragments for synonyms   LP247966-7  Genetics 
Fragments for synonyms   LP34658-2  Change 

LANGUAGE VARIANTS
  Chinese (CHINA)  (From: Regenstrief-generated full translation based on part translation provided by Lin Zhang, A LOINC volunteer from China)
 
  DNA 变化:发现:时间点:全血/​组织:名义型:分子遗传学类实验室方法DNA 变化:发现:时间点:全血/​组织:名义型:分子遗传学类实验室方法
  French (FRANCE)  (From: ASIP Santé (Agence des systèmes d'information partagés de santé))
 
  ADN variation de séquence:Recherche:Ponctuel:Sang/​Tissu:Résultat textuel:Biologie moléculaireADN variation de séquence:Recherche:Ponctuel:Sang/​Tissu:Résultat textuel:Biologie moléculaireADN variation de séquence [Recherche] Sang/​Tissu ; Résultat textuel ; Biologie moléculaire
  Portuguese (BRAZIL)  (From: HL7 Brazil Institute)
 
  Variação da sequência de DNA:Achado:Pt:Sg/​Tecido:Nom:Genética molecularVariação da sequência de DNA:Achado:Pt:Sg/​Tecido:Nom:Genética molecular
  Spanish (SPAIN)  (From: Regenstrief-generated full translation based on part translation provided by the Clinical Laboratory Committee of SERVICIO EXTREMEÑO DE SALUD, with the support of BITAC MAP.)
 
  Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecularCambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular

RELATED NAMES
  Blood HL7.GENETICS Replace
  Deoxyribonucleic acid Molecular genetics Tissue
  Exchange MOLPATH.GENERAL Tissue, unspecified
  Finding Nominal WB
  Findings PCR Whole blood
  Genetic Point in time Whole blood or Tissue
  Genomic Random  

CHANGE HISTORY
  Change Type: NAM

INTERNAL FIELDS
  Detail Page Created On: 12/13/2018 4:05:37 AM
  Attachment Units Required: N
  Long Common Name: DNA change (c.HGVS)
  Shortname: DNA change
  Fully Specified Name: DNA change: Find: Pt: Bld/Tiss: Nom: Molgen
     
  Component Word Count: 2
  ID: 41616
  Status (Raw): ACTIVE