Version 2.77

55232-3 Genetic analysis summary panel

Term Description

The summary panel for a genetic analysis for one or more laboratory tests (e.g. analysis for disease risk, diagnosis or pharmacogenetics) on a single accession.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Genetic analysis summary panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
Genetic analysis summary Pnl
Display Name
Genetic analysis summary panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic analysis summary panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de resumen de análisis genético:-:Punto temporal:Sangre o tejido:-:Genética molecular
es-ES Spanish (Spain) Resumen del panel de análisis genéticos:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) Génétique panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) Analisi genetica, panel generale:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel generale analisi genetica Panel HL7 genetica Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische analyse beknopt panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Resumo de análise genética painel:#N/A:Pt:Sg/Tecido:-:Genética molecular
Synonyms: ; Genetic analysis summary Pnl; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетический анализ краткие сведения панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) 遗传分析摘要组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目) 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液 遗传分析摘要组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);遗传学分析摘要医嘱组;遗传分析摘要组套;遗传分析摘要组合;遗传分析概括医嘱组;遗传分析小结医嘱组;遗传分析总结医嘱组

51967-8 Genetic disease assessed [ID]

Term Description

Coded identifier of the disorder being assessed but with exception to allow the recording of something not included in the controlled vocabulary that is being used. Various coding systems may be used, including ICD-9-CM, ICD-10-CM, SCT and NCBI MedGen.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genetic disease assessed
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis assessed
Display Name
Genetic disease assessed Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genetic disease assessed, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Enfermedad genética evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Valoracion de enfermedades geneticas:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica valutata:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte onderzocht:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doenças genéticas avaliadas:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene dis assessed; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетические заболевания исследование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 已评估的遗传性疾病:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 已评估(评价)的遗传性疾病(遗传疾病、遗传病、基因疾病) 所评估(所评价、已评估、已评价)的疾病(疾、病、疾患) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 疾 病 症 血;血液

51963-7 Medication assessed [ID]

Term Description

A coded medication assessed in a pharmacogenic test (recommend RxNorm)
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Medication assessed
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Medication assessed
Display Name
Medication assessed Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Medication assessed, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Medicación evaluada:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Medicacion evaluada:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Médication étudiée:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Farmaco valutato:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Medicação avaliada:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарственное лечение оценка:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Nedikasyon değerlendirilmiş:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 已评估的药物:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 处理用药;处理用药物;处理药物;治疗用药;治疗用药物;用药;药物处理;药物治疗;治疗药物 所评估的药物;已评价的药物 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Genomic source class
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genomic source class
Display Name
Genomic source class Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic source class, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14631

Preferred Answer List LL378-1

Answer Code Score Answer ID
Germline LA6683-2
Somatic LA6684-0
Fetal LA10429-1
Likely germline LA18194-3
Likely somatic LA18195-0
Likely fetal LA18196-8
Unknown genomic origin LA18197-6
De novo LA26807-0

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Classe fonte Genomica:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Classe da fonte Genomic:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Genetic variant source; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Srce; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геномный источник класс:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 基因组来源类:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 型 基因组来源类别 族;种类;等;类;类别;级;纲;组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 源 血;血液

51968-6 Discrete variation analysis overall interpretation

Term Description

Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genetic disease analysis overall interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis anl interp-Imp
Display Name
Genetic disease analysis overall interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease analysis overall interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
8725

Preferred Answer List LL541-4

Answer Code Score Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Failure LA9664-9

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación general del análisis de enfermedades genéticas:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación general del análisis en la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione generale analisi:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione generale di analisi di malattia ge Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Doenças genéticas análise total interpretação:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis anal interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетические заболевания анализ общая интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık analizi tüm yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病分析总体解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 全面;整体;总体情况 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 疾病(疾、病、疾患)分析总体(整体、宏观、大体、概括)解释(说明、阐释、诠释) 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)分析总体(整体、宏观、大体、概括)解释(说明、阐释、诠释)

53039-4 Genetic disease analysis overall carrier interpretation

Term Description

Carrier Identification interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genetic disease analysis overall carrier interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis anl carrier interp-Imp
Display Name
Genetic disease analysis overall carrier interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease analysis overall carrier interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
4608

Preferred Answer List LL604-0

Answer Code Score Answer ID
Carrier LA10314-5
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Failure LA9664-9

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación general del portador del análisis de enfermedades genéticas:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación general del análisis en la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique transmise interprétation globale:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione analisi portatore generale:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di analisi di malattia genetica su Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Análise genética da doença interpretação transportadora global:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis anal carrier interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание анализ общий носитель интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık analizi tüm taşıyıcı yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病分析总体携带者解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 全面;整体;总体情况 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)分析总体携带者解释

51964-5 Drug efficacy analysis overall interpretation

Term Description

Overall predicted phenotype for drug efficacy for all markers and/or individual alleles identified in a single case.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Drug efficacy analysis overall interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Drug eff analysis imp-Imp
Display Name
Drug efficacy analysis overall interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Drug efficacy analysis overall interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.56
Order vs. Observation
Observation

Preferred Answer List LL540-6

Answer Code Score Answer ID
Responsive LA6677-4
Resistant LA6676-6
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) LA9663-1
Failure LA9664-9

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
51962-9 Pharmacogenetic DNA analysis panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación general del análisis de eficacia del fármaco:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Evaluacion total de la eficacia de marcadores de drogas:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Efficacité du médicament interprétation globale:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Farmaci, interpretazione complessiva analisi efficacia:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione complessiva di analisi di efficaci Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) geneesmiddelwerkzaamheid-analyse eindinterpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Interpretação global da análise de eficácia da droga:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Drug eff analysis imp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Drugs; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарство эффективность анализ общая интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) İlaç etkilik analizi ayrıntılı yorum:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 药物疗效分析总体解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 全面;整体;总体情况 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 毒品 毒品;麻醉药;麻醉品;麻药;兴奋剂;药品 毒品类 药品类 药物 药物疗效分析总体(整体、宏观、大体、概括)解释(说明、阐释、诠释) 药物类 血;血液

51971-0 Gene product metabolic activity interpretation in Blood or Tissue Qualitative by Molecular genetics method

Term Description

Overall predicted phenotype for drug metabolism for all markers and/or individual alleles identified in a single case.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Gene product metabolic activity interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
Gene prod met act imp Bld/T-Imp
Display Name
Gene product metabolic activity interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Gene product metabolic activity interpretation, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Release 2.67: COMPONENT: Updated Component to align existing terms for reporting gene product metabolic activity (phenotype) based on input from the Clinical Pharmacogenetics Implementation Consortium (CPIC).; AnswerListId: Updated Preferred Answer List based on input from the Clinical Pharmacogenetics Implementation Consortium (CPIC).; Previous Releases: Corrected Scale from "Nom" to "Ord" since drug metabolism phenotypes are ordinal.
Order vs. Observation
Observation
Common Test Rank Get Info
13494

Preferred Answer List LL3856-3

Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Member of these Panels

LOINC Long Common Name
81642-1 CYP3A4 and CYP3A5 gene targeted mutation analysis panel - Blood or Tissue by Molecular genetics method
55233-1 Genetic analysis master panel
51962-9 Pharmacogenetic DNA analysis panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la actividad metabólica del producto genético:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Interpretación de la actividad metabólica del producto genético:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) Gène activité produit métabolique interprétation:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Gene, interpretazione dell'attività metabolica:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Farmacogenomica Genetica molecolare Impressione/interpretazione di studio Interpretazione dell''attività metabolica del gene Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Interpretação global da análise do Metabolismo da droga:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Drug metAc analysis interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Drugs; MOLPATH.GENERAL
zh-CN Chinese (China) 基因产物新陈代谢活性解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: 代谢作用;新陈代谢 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 基因产物新陈代谢(代谢)活性解释(说明、阐释、诠释、解释说明) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 活动 血;血液 遗传基因;遗传因子;吉恩;生物基因

51969-4 Genetic analysis report

Term Description

Narative report in disease diagnostic-based format.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genetic analysis summary report
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
Molgen

Additional Names

Short Name
Gene analysis narr rpt Doc
Display Name
Genetic analysis narrative report Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic analysis narrative report, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
3738

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Informe resumido del análisis genético:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
es-ES Spanish (Spain) Informe de enfemedades genéticas:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
fr-FR French (France) Compte rendu de génétique:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-IT Italian (Italy) Analisi genetica, referto generale:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto Referto clinico di test genetico Referto generale di analisi genetica Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische analyse beknopt report:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Relatório sumário de análise genética:Achado:Pt:Sg/Tecido:Doc:Genética molecular
Synonyms: ; Gene anal sum rept; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетический анализ краткие сведения отчёт:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik analizi summary report:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CN Chinese (China) 遗传分析摘要报告:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 报道;汇报;调查报告;报表;报导 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传学分析摘要报告;遗传分析概括报告;遗传分析小结报告;遗传分析总结报告

53577-3 Reason for study

Term Description

The freeform text that is entered by the ordering provider to further annotate the coded Reason for Study [LOINC: 51967-8] associated with an ordered test. In HL7 v2 messages, OBR-31 should be used to report the reason for study.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Reason for study additional note
Property
Txt
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Short Name
Reason for study
Display Name
Reason for study additional note Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
Reason for study additional note, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Both
Common Test Rank Get Info
12562

HL7® Attributes

HL7® Field ID
OBR-31

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Razón del estudio nota adicional:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-ES Spanish (Spain) Razón para el estudio de notas complementarias:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
fr-FR French (France) Contexte de l'étude note complémentaire:Texte:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) Motivo di ulteriore approfondimento:Txt:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Testo
nl-NL Dutch (Netherlands) reden voor onderzoek aanvullende aantekening:tekst:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Apontamentos da razão de estudo adicional:Txt:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: Text; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Add; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Причина исследования дополнительная запись:Txt:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Мотивировка исследования;Обоснование исследования Описательный Текст Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Sebep ek not çalışma için:Metin:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN Chinese (China) 关于检查的原因 附加记录:文本型属性:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 关于检查的理由 附加记录;检查原因附加记录;检查理由附加记录 关于检查的理由;检查原因;检查理由 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 文本;文本型;文本属性 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检查分析 研究;检查项目;调查;考察;研究项目;学习 笔记;按语;注释;说明;票据;单据;证明书 考察 血;血液 调查 附加的 额外 额外的

51956-1 DNA region analysis test coverage panel

Term Description

Test coverage observation set for genetic (laboratory) tests which analyze contiguous regions (sequences) of the genome from an assayed specimen against a reference sequence representing the "normal" or "wild type" version of the genome in order to identify DNA Markers and/or Individual Alleles.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA region analysis test coverage panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
DNA reg analysis cover Pnl
Display Name
DNA region analysis test coverage panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
DNA region analysis test coverage panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Order
Common Test Rank Get Info
9018
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de cobertura de prueba de análisis de región de ADN:-:Punto temporal:Sangre o tejido:-:Genética molecular
es-ES Spanish (Spain) Panel de cobertura de analisis de una region de ADN:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) ADN région analysée Test panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) DNA, test di analisi regione, panel di copertura:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel copertura test di analisi di regione del DNA Panel HL7 genetica Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regio analyse test dekkingspanel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Painel de análise da região do DNA de cobertura de teste:-:Pt:Sg/Tecido:-:Genética molecular
Synonyms: ; DNA reg analysis cover Pnl; Deoxyribonucleic acid; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК зона анализ тест покрытие панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) DNA 区域分析 试验覆盖范围医嘱:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: DNA 区域分析 试验覆盖范围组套;DNA 区域分析 试验覆盖范围组合;DNA 区域分析 检验项目覆盖范围医嘱组 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 区;地区;局部 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目) 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液

53041-0 DNA region of interest panel

Term Description

A set of observations which comprise the definition of a contiguous sequence of nucleotides in the genome. This is intended for use in genetic test coverage panels in genetic test reporting.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
DNA region of interest panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
DNA region of interest Pnl
Display Name
DNA region of interest panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
DNA region of interest panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de la región de interés del ADN:-:Punto temporal:Sangre o tejido:-:Genética molecular
es-ES Spanish (Spain) Perfil región de interés del ADN:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) ADN région d'intérêt panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) DNA, regione di interesse, panel:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel HL7 genetica Panel regione di interesse del DNA Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regio van interesse panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) DNA região de interesse painel:-:Pt:Sg/Tecido:-:Genética molecular
Synonyms: ; ROI; DNA region of interest Pnl; Deoxyribonucleic acid; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК зона интереса панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) DNA 兴趣区域组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: DNA 兴趣区域组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);兴趣 DNA 区域医嘱组;感兴趣 DNA 区域医嘱组;感兴趣的 DNA 区域医嘱组;DNA 兴趣区域;DNA ROI;DNA region of interest;DNA 兴趣区域组套;DNA 兴趣区域组合 HL7 遗传学 全血或组织;血液/组织;血液或组织 兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest 兴趣区;Region of interest;ROI 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 区;地区;局部 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目) 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液

48013-7 Genomic reference sequence [ID]

Term Description

This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC

Observation Required in Panel

Required

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genomic reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Genomic reference sequence ID
Display Name
Genomic reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genomic reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia genómica:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence génomique identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Sequenza di riferimento genomica, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische referentie sequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificador da sequência de referência Genomic:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref Sequence; Genomic reference sequence ID; Reference sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Genetic; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геном референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因组参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因组参考序列标识;基因组参考序列 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

69545-2 DNA region of interest start [Identifier]

Term Description

DNA Region of Interest Start and DNA Region of Interest Stop is optional information. However, if used they should be used together. These codes are used to define the region examined for DNA variants within a genetic test.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA region of interest start
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA ROI start
Display Name
DNA region of interest start Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA region of interest start, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Inicio de la región de interés del ADN:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) ADN región de comienzo:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) ADN début de la région d'intérêt:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, regione di interesse, inizio:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Inizio regione di interesse del DNA Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regio van interesse start:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Região de DNA de interesse inicial:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) ДНК зона интереса начало:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA bölgesi start interest:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 兴趣区域开始:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest 兴趣 DNA 区域开始;感兴趣 DNA 区域开始;感兴趣的 DNA 区域开始;兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest;DNA 兴趣区域起始 兴趣区;Region of interest;ROI 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 区;地区;局部 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 起始

69546-0 DNA region of interest stop [Identifier]

Term Description

DNA Region of Interest Start and DNA Region of Interest Stop is optional information. However, if used they should be used together. These codes are used to define the region examined for DNA variants within a genetic test.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA region of interest stop
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA ROI stop
Display Name
DNA region of interest stop Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA region of interest stop, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Parada de la región de interés del ADN:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) ADN región de parada:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) ADN fin de la région d'intérêt:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, regione di interesse, fine:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Fine regione di interesse del DNA Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regio van interesse stop:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Região de DNA de final de interesse:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) ДНК зона интереса конец:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA bölgesi stop interest:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 兴趣区域结束:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest 兴趣 DNA 区域结束;感兴趣 DNA 区域结束;感兴趣的 DNA 区域结束;兴趣 DNA 区域;感兴趣 DNA 区域;感兴趣的 DNA 区域;DNA ROI;DNA region of interest;DNA 兴趣区域停止 兴趣区;Region of interest;ROI 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 区;地区;局部 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

69547-8 Genomic ref allele [ID]

Term Description

Reference values ("normal") examined within the Reference Sequence. This is used in a genotyping test to define the reference and variable nucleotide strings. That is if the sequence variation is an insertion, then Reference Nucleotide will be blank and Variable Nucleotide will contain the inserted nucleotides. In contrast, if the sequence variation is a deletion, then the Reference Nucleotide will contain the deleted nucliotieds, and the Variable Nucleotide will be blank.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Reference nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Ref nucleotide
Display Name
Reference nucleotide Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference nucleotide, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide de référence:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide di riferimento:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) referentie nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PL Polish (Poland) Nukleotyd referencyjny:wykrycie lub identyfikacja:punkt w czasie:krew lub tkanka:cecha:genetyka molekularna
pt-BR Portuguese (Brazil) Nucleotídeo de referência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Референс нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Referans nukleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

69551-0 Genomic alt allele [ID]

Term Description

The genomic alternate allele is the contiguous segment of DNA in the test sample that differs from the reference allele at the same location and thus defines a variant.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Variable nucleotide
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Alt allele
Display Name
Genomic alternate allele Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic alternate allele, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.58
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Alelo alternativo genómico:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nucleótido variable:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nucléotide variable:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Nucleotide variabile:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) variable nucleotide:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nucleotídeo variável:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Вариабельный нуклеотид:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Değişken nükleotid:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 可变核苷酸:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

48010-3 Genechip ID [Identifier] in Blood or Tissue by Molecular genetics method

Term Description

Example answer:333^Third Wave Invader^3WAVE
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genechip ID
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genechip ID Bld/T
Display Name
Genechip ID Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genechip ID, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.26
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
48016-0 Genechip kit panel - Blood or Tissue by Molecular genetics method
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) ID de Genechip:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Identificación de chip de genotipos:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Genechip ID:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Genechip, ID:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare ID Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genenchip ID:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Genechip ID:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Intradermal; Molecular pathology
ru-RU Russian (Russian Federation) Генечип ID:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gençip Tmlyc:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 基因芯片标识符:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因芯片 ID;基因芯片标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 标志 标志符 标识 标识;身份标识符;身份标识 标识符 标识符(Identifier,ID) 皮下 皮下的 皮内 皮内(Intradermal,ID) 皮内的 皮层内 皮层内的 真皮下 真皮下的 真皮内的 血;血液 识别 识别符

48009-5 Genechip manufacturer ID [Identifier] in Blood or Tissue by Molecular genetics method

Term Description

Example answer: 527362^Third Wave^UNIV
Definition: Record the ID and name of the Gene Chip manufacturers here in HL7 CE code format (Code^display name^code system).
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genechip manufacturer ID
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genechip Manufacturer ID Bld/T
Display Name
Genechip manufacturer ID Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genechip Manufacturer ID, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.26
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
48016-0 Genechip kit panel - Blood or Tissue by Molecular genetics method
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) ID del fabricante de Genechip:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Identificación de fabricante de chip de genotipos:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Genechip ID du fabricant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Genechip, ID produttore:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare ID produttore Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genenchip fabrikant ID:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) fabricante GeneChip ID:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Intradermal; Molecular pathology
ru-RU Russian (Russian Federation) Генечип производитель ID:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gençip üreticisi Tnmlyc:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 基因芯片制造商标识符:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因芯片制造商 ID;基因芯片制造商标识;基因芯片厂商 ID;基因芯片厂商标识;基因芯片厂商标识符;基因芯片生产厂家 ID;基因芯片生产厂家标识;基因芯片生产厂家标识符 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 标志 标志符 标识 标识;身份标识符;身份标识 标识符 标识符(Identifier,ID) 皮下 皮下的 皮内 皮内(Intradermal,ID) 皮内的 皮层内 皮层内的 真皮下 真皮下的 真皮内的 血;血液 识别 识别符

48011-1 Genechip version [Identifier] in Blood or Tissue by Molecular genetics method

Term Description

Example answer: 1.0
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Type of Entry

Question expects user entry - requires response [Q]

Fully-Specified Name

Component
Genechip version
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genechip Version Bld/T
Display Name
Genechip version Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genechip version, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MISC
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.26
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
48016-0 Genechip kit panel - Blood or Tissue by Molecular genetics method
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Versión Genechip:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Versión de chip de genotipos:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Genechip version:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Genechip, versione:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci Versione Genechip
nl-NL Dutch (Netherlands) genenchip versie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Versão de Genechip:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Molecular pathology
ru-RU Russian (Russian Federation) Генечип версия:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gençip version:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 基因芯片版本:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 全血或组织;血液/组织;血液或组织 分子病理学.杂项;分子病理学试验.杂项;分子病理学试验类.其他 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 杂项;杂项类;杂项试验 标识;身份标识符;身份标识 版;版次;变化形式;变体 血;血液

55207-5 Genetic analysis discrete result panel

Term Description

The set of observations representing all identified DNA sequence variations (variants and wild type) for all of the genetic assays performed for a single accession.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
Genetic analysis discrete result panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
Genetic analysis discrete result Pnl
Display Name
Genetic analysis discrete result panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic analysis discrete result panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de resultados discretos de análisis genético:-:Punto temporal:Sangre o tejido:-:Genética molecular
es-ES Spanish (Spain) Panel de análisis de resultados discretos genéticos:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) Analyses génétiques (résultat confidentiel) panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) Analisi genetica, panel risultato discreto:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel HL7 genetica Panel risultato discreto di analisi genetica Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische analyse discrete resultaten panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Painel de resultados discretos de análise genética:#N/A:Pt:Sg/Tecido:-:Genética molecular
Synonyms: ; Genetic analysis discrete result Pnl; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетический анализ дискретный результат панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) 遗传分析离散结果组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目) 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液 遗传分析离散结果组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);遗传学分析离散结果医嘱组;遗传分析不相关结果医嘱组;遗传分析分散结果医嘱组;遗传分析离散结果组套;遗传分析离散结果组合;遗传分析离散性状结果医嘱组

55208-3 DNA analysis discrete sequence variation panel

Term Description

This panel contains terms used to report details associated with molecular genetics discrete sequence variation results.
Source: Regenstrief LOINC

Observation Required in Panel

Required

Fully-Specified Name

Component
DNA analysis discrete sequence variation panel
Property
-
Time
Pt
System
Bld/Tiss
Scale
-
Method
Molgen

Additional Names

Short Name
DNA analysis discrete seq var Pnl
Display Name
DNA analysis discrete sequence variation panel Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
DNA analysis discrete sequence variation panel, Blood or tissue specimen

Basic Attributes

Class
PANEL.HL7.GENETICS
Type
Laboratory
First Released
Version 2.27
Last Updated
Version 2.56
Order vs. Observation
Order
Panel Type
Panel

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Panel de variación de secuencia discreta de análisis de ADN:-:Punto temporal:Sangre o tejido:-:Genética molecular
es-ES Spanish (Spain) Perfil de análisis de ADN variante de secuencia discreta:Propiedades mixtas (sólo paneles):Punto temporal:Sangre o tejido:-:Genética molecular
fr-FR French (France) Variation de séquence ADN panel:-:Ponctuel:Sang/Tissu:-:Biologie moléculaire
it-IT Italian (Italy) DNA, panel analisi variazione sequenza discreta:-:Pt:Sangue/Tess:-:Molgen
Synonyms: Genetica molecolare Panel analisi della variazione di sequenza discret Panel HL7 genetica Panel variazione di sequenza Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA analyse discrete sequentievariatie panel:-:moment:bloed of weefsel:-:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Painel de variação de análise discreta de DNA sequencial:#N/A:Pt:Sg/Tecido:-:Genética molecular
Synonyms: Positional Variant Panel; Sequence Variant Panel; DNA analysis discrete seq var Pnl; Deoxyribonucleic acid; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; PCR; Molecular genetics; Pan; Panl; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК анализ дискретная последовательность вариация панель:-:ТчкВрм:Кр/Тк:-:МолГен
Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
zh-CN Chinese (China) DNA 分析 离散序列变异组套:-:时间点:全血/组织:-:分子遗传学类实验室方法
Synonyms: DNA 分析 离散序列变异组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);去氧核糖核酸;脱氧核糖核酸;DNA 分析 离散序列变异组套;DNA 分析 离散序列变异组合 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 医嘱套餐 医嘱套餐类 医嘱套餐组 医嘱组 医嘱组.HL7.遗传学;HL7 遗传学组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目) 医嘱组合 医嘱组合类 医嘱组套 医嘱组套类 医嘱组类 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 多重;多重型;多重标尺类型;多重精度类型 套餐 套餐医嘱 套餐医嘱组 套餐医嘱组类 实验室医嘱套餐 实验室医嘱套餐类 实验室医嘱组 实验室医嘱组合类 实验室医嘱组套 实验室医嘱组套类 实验室套餐医嘱组 实验室套餐医嘱组类 实验室检验项目医嘱组合类 实验室检验项目组合类 序列变异组套(组合、医嘱组、套餐、套餐医嘱、医嘱套餐、组合申请、组合项目);位置变体医嘱组;位置变型医嘱组;位置变异医嘱组;位置变种医嘱组;序列变体医嘱组;序列变型医嘱组;序列变种医嘱组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 检验医嘱组合类 检验项目医嘱组合类 检验项目组合类 组 组合 组合医嘱 组合类 组套 血;血液

48018-6 Gene studied [ID]

Term Description

HUGO Gene Nomenclature Committee (HGNC) identifier for a gene. List the gene(s) examined in full or in part by the study. If the study addresses multiple genes, these can be recorded in one OBX as a list seperated by repeat delimiters or in mulltiple OBX's with one gene per OBX. The recommended coding system will use the HGNC gene symbol as the display text and HGNC gene ID as the code. For example, 21497^ACAD9^HGNC.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Gene identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Gene studied ID
Display Name
Gene studied Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Gene studied, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
9796

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
102118-7 Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method
102119-5 Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method
74028-2 Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de gen estudiado:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador genético:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Gène identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Gene, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) gen-identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificação do gene:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Gene ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Ген идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Gen tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因标识;基因 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 遗传基因;遗传因子;吉恩;生物基因

48013-7 Genomic reference sequence [ID]

Term Description

This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genomic reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Genomic reference sequence ID
Display Name
Genomic reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Genomic reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia genómica:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia genómica:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence génomique identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Sequenza di riferimento genomica, identificatore:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische referentie sequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Identificador da sequência de referência Genomic:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref Sequence; Genomic reference sequence ID; Reference sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Genetic; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геном референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 基因组参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因组参考序列标识;基因组参考序列 ID 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

51958-7 Transcript reference sequence [ID]

Term Description

This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Transcript reference sequence identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method

Additional Names

Short Name
Transcript ref sequence ID
Display Name
Transcript reference sequence Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Transcript reference sequence, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14335

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de secuencia de referencia de la transcripción:Identificador:Punto temporal:Sangre o tejido:Nominal:
es-ES Spanish (Spain) Identificador de secuencia de referencia transcrita:Código identificador:Punto temporal:Sangre o tejido:Nom:
fr-FR French (France) Séquence de référence du transcript identifiant:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:
it-IT Italian (Italy) Trascrizione, identificatore sequenza di riferimento:ID:Pt:Sangue/Tess:Nom:
Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) transcriptie referentiesequentie identificator:identificator:moment:bloed of weefsel:nominaal:
pt-BR Portuguese (Brazil) Transcrição identificador seqüência de referência:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Transcript ref sequence ID; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Транскрипт референсная последовательность идентификатор:ID:ТчкВрм:Кр/Тк:Ном:
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Transkript referans sekans tanımlayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:
zh-CN Chinese (China) 转录物参考序列标识符:标识符:时间点:全血/组织:名义型:
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液 转录物(转录本、转录产物、转录子、转录)参考序列标识符;转录本参考序列标识;转录本参考序列 ID

48008-7 Allele name [Identifier]

Term Description

The published and commonly used name for a gene allele is recommended. For unpublished or non-established alleles, logical assumptions and conventions may be used.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allele name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allele name
Display Name
Allele name Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
Allele name, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
78046-0 Pharmacogenomic analysis basic associated observations panel - Blood or Tissue

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre de alelo:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nombre de alelo:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Nom de l'allèle:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Allele, nome:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Nome di allele Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelnaam:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nome do alelo:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллель наименование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allel adı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位基因名称:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 姓名;名字;名 对偶基因名称 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

48003-8 DNA sequence variation identifier [Identifier]

Term Description

A DNA Marker identifier conveys a universal or standard repository identifier for definitive characterstics of a DNA Marker. (recommend using NCBI dbSNP ids - rs#)
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA sequence variation identifier
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA seq var ID
Display Name
DNA sequence variation identifier Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
DNA sequence variation identifier, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14222

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Identificador de variación de secuencia de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Identificador variante de secuencia de ADN:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
Synonyms: Cambio ADN
fr-FR French (France) ADN identifiant de la variation de séquence:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, identificatore variazione sequenza:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Identificatore di variazione di sequenza del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Variazione di sequenza del DNA
nl-NL Dutch (Netherlands) DNA sequentievariatie identificator:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Identificador de variação da seqüência do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var ID; Genetic variant ID; DNA change; Deoxyribonucleic acid; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК последовательность вариация идентификатор:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA sekans varyasyonu tanımalayıcı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 序列变异标识符:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 标识;身份标识符;身份标识;ID 血;血液

48004-6 DNA change (c.HGVS)

Term Description

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.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
DNA change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA change
Display Name
DNA change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
Order vs. Observation
Observation
Common Test Rank Get Info
8938

Member of these Panels

LOINC Long Common Name
77313-5 DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Cambio del ADN:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Cambio de ADN:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) ADN variation:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Variação da sequência de DNA:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var; DNA change; Deoxyribonucleic acid; Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (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
Synonyms: DNA 改变 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48019-4 DNA change type

Term Description

Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA Change Type
Display Name
DNA change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
Order vs. Observation
Observation

Preferred Answer List LL379-9

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Insertion LA6687-3
Insertion/Deletion LA6688-1
Inversion LA6689-9
Substitution LA6690-7

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Tipo de variação de sequência de DNA:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var type; DNA change type; Deoxyribonucleic acid; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液

48005-3 Amino acid change (pHGVS)

Term Description

Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Amino acid change
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change
Display Name
Amino acid change Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
4958

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Cambio de aminoácidos:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) cambio aminoacídico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés substitués:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijziging:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Mudança de amino ácido:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 氨基酸变化:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

48006-1 Amino acid change [Type]

Term Description

Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Amino acid change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Amino acid change type
Display Name
Amino acid change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Amino acid change type, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.58
Order vs. Observation
Observation

Preferred Answer List LL380-7

Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Frameshift LA6694-9
Initiating Methionine LA6695-6
Insertion LA6687-3
Insertion and Deletion LA9659-9
Missense LA6698-0
Nonsense LA6699-8
Silent LA6700-4
Stop Codon Mutation LA6701-2

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pt-BR Portuguese (Brazil) Tipo de mudança de amino ácido:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение тип:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 氨基酸变化类型:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

47999-8 DNA region name [Identifier]

Term Description

A human readable name for the region of interest. Typically Exon #, Intron # or other. NOTE: This is not standardized and is mainly for convenience and display purposes.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA region name
Property
ID
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA region name
Display Name
DNA region name Molgen Nom (Bld/Tiss) [ID]
Consumer Name Alpha Get Info
DNA region name, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
16923

Member of these Panels

LOINC Long Common Name
53042-8 DNA marker assessed panel
53044-4 DNA marker identified panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48015-2 Individual allele panel
51975-1 Individual allele results panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method
48017-8 Sequencing methodology panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre de la región de ADN:Identificador:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Nombre de la región de ADN:Código identificador:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) ADN nom de la région:Identifiant:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, nome regione:ID:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) DNA regionaam:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nome da região do DNA:ID:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Gene region; Deoxyribonucleic acid; Identifier; Ident; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК зона наименование:ID:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA bölge adı:Tnmlyc:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) DNA 区域名称:标识符:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 区;地区;局部 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 姓名;名字;名 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 标识;身份标识符;身份标识 血;血液

53034-5 Allelic state

Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Allelic state
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68
Order vs. Observation
Observation

Preferred Answer List LL381-5

Answer Code Score Answer ID
Heteroplasmic LA6703-8
Homoplasmic LA6704-6
Homozygous LA6705-3
Heterozygous LA6706-1
Hemizygous LA6707-9

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Estado alélicas:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 等位状态:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 血;血液

48002-0 Genomic source class [Type]

Term Description

The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
Genomic source class
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genomic source class
Display Name
Genomic source class Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genomic source class, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
14631

Preferred Answer List LL378-1

Answer Code Score Answer ID
Germline LA6683-2
Somatic LA6684-0
Fetal LA10429-1
Likely germline LA18194-3
Likely somatic LA18195-0
Likely fetal LA18196-8
Unknown genomic origin LA18197-6
De novo LA26807-0

Member of these Panels

LOINC Long Common Name
62389-2 Chromosome analysis master panel
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51966-0 Genetic disease DNA analysis panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel
51962-9 Pharmacogenetic DNA analysis panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Clase de fuente genómica:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Origen de la clase genómica:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Source génomique:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Classe fonte Genomica:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genomische bronklasse:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Classe da fonte Genomic:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Genetic variant source; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Srce; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Геномный источник класс:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genomik kaynak sınıfı:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 基因组来源类:类型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 型 基因组来源类别 族;种类;等;类;类别;级;纲;组 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 源 血;血液

47998-0 DNA sequence variation display name [Text] Narrative

Term Description

Thumbnail "textual display" convention of a single DNA Marker and its interpretation.
Source: Regenstrief LOINC

Observation Required in Panel

Optional

Fully-Specified Name

Component
DNA sequence variation display name
Property
Txt
Time
Pt
System
Bld/Tiss
Scale
Nar
Method
Molgen

Additional Names

Short Name
DNA seq var display name
Display Name
DNA sequence variation display name Molgen Nar (Bld/Tiss)
Consumer Name Alpha Get Info
DNA sequence variation display name, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.56
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
48014-5 Sequence variation panel - Blood or Tissue by Molecular genetics method

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Nombre para mostrar de la variación de la secuencia de ADN:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
es-ES Spanish (Spain) Nombre de la variante de secuencia de ADN:Texto:Punto temporal:Sangre o tejido:Narrativo:Genética molecular
Synonyms: Cambio ADN
fr-FR French (France) ADN nom de la variation de séquence:Texte:Ponctuel:Sang/Tissu:Résultat textuel:Biologie moléculaire
it-IT Italian (Italy) DNA, display name variazione sequenza:Txt:Pt:Sangue/Tess:Nar:Molgen
Synonyms: Genetica molecolare Nome visualizzato di variazione di sequenza del DN Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Testo Variazione di sequenza del DNA
nl-NL Dutch (Netherlands) DNA weergave van de naam van de sequentievariatie:tekst:moment:bloed of weefsel:tekstueel:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Nome da sequência de DNA a apresentar variação:Txt:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: ; DNA seq var display name; Genetic variant for display; DNA change; Deoxyribonucleic acid; Text; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) ДНК последовательность вариация отображаемое наименование:Txt:ТчкВрм:Кр/Тк:Опис:МолГен
Synonyms: Кровь Кровь или Ткань Описательный Текст Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) DNA sekans varyasyonu görünen adı:Metin:Zmlı:Kan/Dk:Öykü:Molgen
zh-CN Chinese (China) DNA 序列变异显示名称:文本型属性:时间点:全血/组织:叙述型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 叙述;叙述性文字;报告;报告型;文字叙述;文本叙述型;文本描述;文本描述型 姓名;名字;名 文本;文本型;文本属性 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

53037-8 Genetic variation clinical significance [Imp]

Term Description

Single DNA marker or individual allele interpretation in the context of the assessed genetic disease.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the American College of Medical Genetics (ACMG). The previous answer list number was LL603-2, and two of the answer strings and LA codes are the same in the new list (pathogenic and benign). In the new answer list, the presumed pathogenic, unknown significance and presumed benign answers from LL603-2 have been replaced by likely pathogenic, uncertain significance and likely benign. The answer strings and their respective LA codes from LL603-2 remain valid.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Genetic disease sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Gene dis seq var interp-Imp
Display Name
Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Genetic disease sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
11949

Preferred Answer List LL4034-6

Answer Code Score Answer ID
Pathogenic LA6668-3
Likely pathogenic LA26332-9
Uncertain significance LA26333-7
Likely benign LA26334-5
Benign LA6675-8

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la enfermedad genética:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia de la enfermedad genética:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Maladie génétique interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Malattia genetica, interpretazione variazione di sequenza:Imp:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione della variazione di sequenza di ma Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) genetische ziekte sequentievariatie interpretatie:interpretatie:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Doença genética interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Gene dis seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Dis; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Генетическое заболевание последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik hastalık sekans varyasyon yorumu:İzlnm:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传性疾病序列变异解释:印象:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 疾 病 症 血;血液 遗传性疾病(遗传疾病、遗传病、基因疾病)序列变异解释

53040-2 Genetic variation's effect on drug metabolism

Term Description

Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Drug metabolism sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
Drug metab seq var interp-Imp
Display Name
Drug metabolism sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Drug metabolism sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated Long Common Name based on the HL7 Clinical Genomics Implementation guide; Corrected Scale from "Nom" to "Ord" since results are ordinal.
Order vs. Observation
Observation
Common Test Rank Get Info
11135

Preferred Answer List LL3856-3

Answer Code Score Answer ID
Ultrarapid metabolizer LA10315-2
Rapid metabolizer LA25390-8
Normal metabolizer LA25391-6
Intermediate metabolizer LA10317-8
Poor metabolizer LA9657-3

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia del metabolismo de los fármacos:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variante de secuencia en el metabolismo de drogas:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) Métabolisme du médicament interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Farmaci, interpretazione variazione sequenza metabolismo:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di variazione di sequenza del meta Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) geneesmiddelmetabolisme volgorde variatie interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Metabolismo de droga interpretação variação da seqüência:Imp:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Drug metAc seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Drugs; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарство метаболизм последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) İlaç metabolizması dizisi değişkenliği yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) 药物代谢 序列变异解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 毒品 毒品;麻醉药;麻醉品;麻药;兴奋剂;药品 毒品类 药品类 药物 药物类 血;血液

51961-1 Genetic variation's effect on drug efficacy

Term Description

Predicted phenotype for ability of drug to bind to intended site in order to deliver intended affect. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Source: Regenstrief LOINC

Observation Required in Panel

Conditional

Fully-Specified Name

Component
Drug efficacy sequence variation interpretation
Property
Imp
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
Drug eff seq var interp-Imp
Display Name
Drug efficacy sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
Consumer Name Alpha Get Info
Drug efficacy sequence variation interpretation, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.73
Change Reason
Updated LCN per CJM for HL7 CG IG
Order vs. Observation
Observation
Common Test Rank Get Info
9472

Preferred Answer List LL539-8

Answer Code Score Answer ID
Resistant LA6676-6
Responsive LA6677-4
Presumed resistant LA9660-7
Presumed responsive LA9661-5
Unknown Significance LA6682-4
Benign LA6675-8
Presumed Benign LA6674-1
Presumed non-responsive LA9662-3

Member of these Panels

LOINC Long Common Name
51960-3 DNA marker results panel
55233-1 Genetic analysis master panel
51975-1 Individual allele results panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Interpretación de la variación de la secuencia de la eficacia del fármaco:Impresión / interpretación del estudio:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
es-ES Spanish (Spain) Interpretación de la variación de la secuencia de la eficacia del fármaco:Impresión/interpretación del estudio:Punto temporal:Sangre o tejido:Ord:Genética molecular
fr-FR French (France) Efficacité du médicament interprétation globale de la variation de séquence:Interprétation:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) Farmaci, interpretazione variazione sequenza efficacia:Imp:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di variazione di sequenza di effic Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) geneesmiddelwerkzaamheid volgorde variatie interpretatie:interpretatie:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Interpretação variação da seqüência de eficácia da droga:Imp:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: Interp; Intrp; Interpret; Interpt; Drug eff seq var interp; Impression; Impressions; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Drugs; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Лекарство эффективность последовательность вариация интерпретация:Впчт:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) İlaç etkilik dizi değişkenlik yorumu:İzlnm:Zmlı:Kan/Dk:Srl:Molgen
zh-CN Chinese (China) 药物疗效 序列变异解释:印象:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 依次型;分类顺序型;定性的;序数型(或称等级型);性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 判读;解释说明;说明;释义;阐明 印象是一种诊断陈述,始终是对其他某种观察指标的解释或抽象(一系列检验项目结果、一幅图像或者整个某位病人),而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 毒品 毒品;麻醉药;麻醉品;麻药;兴奋剂;药品 毒品类 药品类 药物 药物类 血;血液

69548-6 Genetic variant assessment

Term Description

Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Genetic variant assessment
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Genetic var assess
Display Name
Genetic variant assessment Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Genetic variant assessment, Blood or tissue specimen

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.38
Last Updated
Version 2.73
Order vs. Observation
Observation
Common Test Rank Get Info
13238

Preferred Answer List LL1971-2

Answer Code Score Answer ID
Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) LA9633-4
Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) LA9634-2
No call LA18198-4
Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Member of these Panels

LOINC Long Common Name
55233-1 Genetic analysis master panel
81247-9 Master HL7 genetic variant reporting panel

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
es-ES Spanish (Spain) Valoración de la variabilidad genética:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL Dutch (Netherlands) genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传变异评估:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内,用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标,并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型,而对于叙述型文本之中所报告的发现,则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 评价;估计;估价;评论;估定;估算 遗传变异(遗传性变异、基因变异、传性变型、遗传变异体、基因变异体)评估(评价、估计、估价、评论、估定、估算);遗传变异体评估