United States Health Information Knowledgebase

 

Family Member Genetic Test Information


Identifier:18.18
Definition:Information about genetic test results for family members
Constraints:C154-[DE-18.18-1] Components of a Genetic Laboratory Test SHALL be coded as specified in HITSP/C80 Section 2.2.3.11 Genetic Testing

Value Sets


Genetic Test Result Identifier Value Set

OID:2.16.840.1.113883.3.88.12.80.34
Definition:The LOINC® values have been limited by HITSP to the value set reproduced below in Table 2-137 Genetic Test Result Identifier Value Set Definition
Code System Name:Logical Observation Identifiers Names and Codes (LOINC®)
Code System Source:Regenstrief Institute, Inc.
Concept Code Concept Name Definition
47998-0 DNA marker interp short name Bld/T DNA marker interpretation short name [Text] in Blood or Tissue by Molecular genetics method Narrative
47999-8 DNA region name Bld/T DNA region name [Identifier] in Blood or Tissue by Molecular genetics method
48002-0 Genomic source class Bld/T Genomic source class [Type] in Blood or Tissue by Molecular genetics method
48003-8 DNA marker ID Bld/T DNA marker identifier [Identifier] in Blood or Tissue by Molecular genetics method
48004-6 DNA marker Bld/T DNA marker [Finding] in Blood or Tissue by Molecular genetics method
48005-3 Amino acid marker Bld/T Amino acid marker [Finding] in Blood or Tissue by Molecular genetics method
48006-1 Amino acid marker type Bld/T Amino acid marker type in Blood or Tissue by Molecular genetics method
48008-7 Allele name Bld/T Allele name [Identifier] in Blood or Tissue by Molecular genetics method
48013-7 Genomic reference sequence ID Bld/T Genomic reference sequence [Identifier] in Blood or Tissue by Molecular genetics method
48015-2 Individual Allele Pnl Bld/T Individual allele panel in Blood or Tissue by Molecular genetics method
48018-6 Gene ID Bld/T Gene [Identifier] in Blood or Tissue by Molecular genetics method
48019-4 DNA marker type Bld/T DNA marker type in Blood or Tissue by Molecular genetics method
51956-1 DNA reg analysis cover Pnl Bld/T DNA region analysis test coverage panel in Blood or Tissue by Molecular genetics method
51957-9 Placer DNA anal test ID Bld/T Placer DNA analysis test identifier [Identifier] in Blood or Tissue by Molecular genetics method
51958-7 Transcript reference sequence ID Bld/T Transcript reference sequence [Identifier] in Blood or Tissue by Molecular genetics method
51959-5 DNA region of interest Bld/T DNA region of interest [Identifier] in Blood or Tissue by Molecular genetics method
51960-3 DNA marker ID Pnl Bld/T DNA marker results panel in Blood or Tissue by Molecular genetics method
51961-1 Drug eff marker interp Bld/T-Imp Drug efficacy marker interpretation [interpretation] in Blood or Tissue Qualitative by Molecular genetics method
51962-9 Pharmacogenetic DNA anal Pnl Bld/T Pharmacogenetic DNA analysis panel in Blood or Tissue by Molecular genetics method
51963-7 Medication assessed Bld/T Medication assessed [Identifier] in Blood or Tissue by Molecular genetics method
51964-5 Drug eff analysis imp Bld/T-Imp Drug efficacy analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method
51965-2 Pharmacogenetic anal rpt Bld/T Doc Pharmacogenetic analysis report [Finding] in Blood or Tissue Document by Molecular genetics method
51966-0 Gene dis DNA anal Pnl Bld/T Genetic disease DNA analysis panel in Blood or Tissue by Molecular genetics method
51967-8 Gene dis assessed Bld/T Genetic disease assessed [Identifier] in Blood or Tissue by Molecular genetics method
51968-6 Gene dis anal interp Bld/T-Imp Genetic disease analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method
51969-4 Gene dis anal rept Bld/T Doc Genetic disease analysis report [Finding] in Blood or Tissue Document by Molecular genetics method
51970-2 Individual allele ID Bld/T Individual allele identifier [Identifier] in Blood or Tissue by Molecular genetics method
51971-0 Drug metab analysis interp Bld/T-Imp Drug metabolism analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method
51975-1 Individual allele ID panel Bld/T Individual allele results panel in Blood or Tissue by Molecular genetics method
53034-5 Allelic state Bld/T Allelic state [Finding] in Blood or Tissue by Molecular genetics method
53035-2 DNA marker assessed Bld/T DNA marker assessed [Identifier] in Blood or Tissue by Molecular genetics method
53036-0 Filler DNA analysis test ID Bld/T Filler DNA analysis test identifier [Identifier] in Blood or Tissue by Molecular genetics method
53037-8 Gene dis marker interp Bld/T-Imp Genetic disease marker interpretation [interpretation] in Blood or Tissue by Molecular genetics method
53039-4 Gene dis anal carrier interp Bld/T-Imp Genetic disease analysis overall carrier interpretation [interpretation] in Blood or Tissue by Molecular genetics method
53040-2 Drug metab marker interp Bld/T-Imp Drug metabolism marker interpretation [interpretation] in Blood or Tissue by Molecular genetics method
53041-0 DNA region of interest panel Bld/T DNA region of interest panel in Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed Pnl Bld/T DNA marker assessed panel in Blood or Tissue by Molecular genetics method
53043-6 DNA mark analysis cover Pnl Bld/T DNA marker analysis test coverage panel in Blood or Tissue by Molecular genetics method
53044-4 DNA marker Pnl Bld/T DNA marker identified panel in Blood or Tissue by Molecular genetics method
53045-1 Reference sequence alteration Bld/T Reference sequence alteration [Identifier] in Blood or Tissue by Molecular genetics method
53577-3 Reason for study Bld/T Reason for study additional note [Text] in Blood or Tissue by Molecular genetics method Narrative

Genetic Test Result Value Set

OID:2.16.840.1.113883.3.88.12.80.35
Definition:The LOINC® values have been limited by HITSP to the value set reproduced below in Table 2-139 Genetic Test Result Value Set Definition
Code System Name:Logical Observation Identifiers Names and Codes (LOINC®)
Code System Source:Regenstrief Institute, Inc.
Concept Code Concept Name Definition
48002-0 Genomic source class [Type] in Blood or Tissue by Molecular genetics method Not Provided
48006-1 Amino acid marker type in Blood or Tissue by Molecular genetics method Not Provided
48019-4 DNA marker type in Blood or Tissue by Molecular genetics method Not Provided
51961-1 Drug efficacy marker interpretation [interpretation] in Blood or Tissue Qualitative by Molecular genetics method Not Provided
51964-5 Drug efficacy analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided
51968-6 Genetic disease analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided
51971-0 Drug metabolism analysis overall interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided
53034-5 Allelic state [Finding] in Blood or Tissue by Molecular genetics method Not Provided
53037-8 Genetic disease marker interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided
53039-4 Genetic disease analysis overall carrier interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided
53040-2 Drug metabolism marker interpretation [interpretation] in Blood or Tissue by Molecular genetics method Not Provided

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There are no Conceptual Domains linked to Family Member Genetic Test Information.

Relationship Organization Item
utilizes HITSP Genetic Test Result Identifier Value Set   
utilizes HITSP Genetic Test Result Value Set   
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