55233-1
Genetic analysis master panel
Active
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Resumen del panel de análisis genéticos: |
| fr-FR | French (France) | Génétique panel: |
| it-IT | Italian (Italy) | Analisi genetica, panel generale: Synonyms: Genetica molecolare Panel generale analisi genetica Panel HL7 genetica Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische analyse beknopt panel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Resumo de análise genética painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Генетический анализ краткие сведения панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | 遗传分析摘要组套: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Valoracion de enfermedades geneticas: |
| fr-FR | French (France) | Maladie génétique étudiée: |
| it-IT | Italian (Italy) | Malattia genetica valutata: Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische ziekte onderzocht: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Doenças genéticas avaliadas: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Генетические заболевания исследование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık değerlendirilmiş: |
| zh-CN | Chinese (China) | 已评估的遗传性疾病: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Medicacion evaluada: |
| fr-FR | French (France) | Médication étudiée: |
| it-IT | Italian (Italy) | Farmaco valutato: Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Medicação avaliada: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Лекарственное лечение оценка: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Nedikasyon değerlendirilmiş: |
| zh-CN | Chinese (China) | 已评估的药物: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Origen de la clase genómica: |
| fr-FR | French (France) | Source génomique: |
| it-IT | Italian (Italy) | Classe fonte Genomica: Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische bronklasse: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Classe da fonte Genomic: Synonyms: Genetic variant source; |
| ru-RU | Russian (Russian Federation) | Геномный источник класс: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik kaynak sınıfı: Synonyms: Tür |
| zh-CN | Chinese (China) | 基因组来源类: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| fr-FR | French (France) | Maladie génétique interprétation globale: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione generale analisi: 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 & |
| pt-BR | Portuguese (Brazil) | Doenças genéticas análise total interpretação: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетические заболевания анализ общая интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık analizi tüm yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病分析总体解释: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| fr-FR | French (France) | Maladie génétique transmise interprétation globale: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione analisi portatore generale: 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 & |
| pt-BR | Portuguese (Brazil) | Análise genética da doença interpretação transportadora global: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетическое заболевание анализ общий носитель интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık analizi tüm taşıyıcı yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病分析总体携带者解释: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Evaluacion total de la eficacia de marcadores de drogas: |
| fr-FR | French (France) | Efficacité du médicament interprétation globale: |
| it-IT | Italian (Italy) | Farmaci, interpretazione complessiva analisi efficacia: 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 & |
| nl-NL | Dutch (Netherlands) | geneesmiddelwerkzaamheid-analyse eindinterpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Interpretação global da análise de eficácia da droga: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Лекарство эффективность анализ общая интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Номинальный; |
| tr-TR | Turkish (Turkey) | İlaç etkilik analizi ayrıntılı yorum: |
| zh-CN | Chinese (China) | 药物疗效分析总体解释: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación de la actividad metabólica del producto genético: |
| fr-FR | French (France) | Gène activité produit métabolique interprétation: |
| it-IT | Italian (Italy) | Gene, interpretazione dell'attività metabolica: 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 & |
| pt-BR | Portuguese (Brazil) | Interpretação global da análise do Metabolismo da droga: Synonyms: Interp; |
| zh-CN | Chinese (China) | 基因产物新陈代谢活性解释: Synonyms: 代谢作用; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Informe de enfemedades genéticas: |
| fr-FR | French (France) | Compte rendu de génétique: |
| it-IT | Italian (Italy) | Analisi genetica, referto generale: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto Referto clinico di test genetico Referto generale di analisi genetica Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische analyse beknopt report: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Relatório sumário de análise genética: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Генетический анализ краткие сведения отчёт: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | Genetik analizi summary report: |
| zh-CN | Chinese (China) | 遗传分析摘要报告: Synonyms: HL7 遗传学 临床文档型; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Razón para el estudio de notas complementarias: |
| fr-FR | French (France) | Contexte de l'étude note complémentaire: |
| it-IT | Italian (Italy) | Motivo di ulteriore approfondimento: Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | reden voor onderzoek aanvullende aantekening: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Apontamentos da razão de estudo adicional: Synonyms: Text; |
| ru-RU | Russian (Russian Federation) | Причина исследования дополнительная запись: Synonyms: Кровь Кровь или Ткань Мотивировка исследования; |
| tr-TR | Turkish (Turkey) | Sebep ek not çalışma için: |
| zh-CN | Chinese (China) | 关于检查的原因 附加记录: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Panel de cobertura de analisis de una region de ADN: |
| fr-FR | French (France) | ADN région analysée Test panel: |
| it-IT | Italian (Italy) | DNA, test di analisi regione, panel di copertura: 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 & |
| nl-NL | Dutch (Netherlands) | DNA regio analyse test dekkingspanel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Painel de análise da região do DNA de cobertura de teste: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК зона анализ тест покрытие панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | DNA 区域分析 试验覆盖范围医嘱: Synonyms: DNA 区域分析 试验覆盖范围组套; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Perfil región de interés del ADN: |
| fr-FR | French (France) | ADN région d'intérêt panel: |
| it-IT | Italian (Italy) | DNA, regione di interesse, panel: 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 & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse panel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | DNA região de interesse painel: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | DNA 兴趣区域组套: Synonyms: DNA 兴趣区域组套（组合、 |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| fr-FR | French (France) | Séquence de référence génomique identifiant: |
| it-IT | Italian (Italy) | Sequenza di riferimento genomica, identificatore: Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische referentie sequentie identificator: |
| pt-BR | Portuguese (Brazil) | Identificador da sequência de referência Genomic: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Геном референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 基因组参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | ADN región de comienzo: |
| fr-FR | French (France) | ADN début de la région d'intérêt: |
| it-IT | Italian (Italy) | DNA, regione di interesse, inizio: 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 & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse start: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região de DNA de interesse inicial: |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса начало: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölgesi start interest: |
| zh-CN | Chinese (China) | DNA 兴趣区域开始: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | ADN región de parada: |
| fr-FR | French (France) | ADN fin de la région d'intérêt: |
| it-IT | Italian (Italy) | DNA, regione di interesse, fine: 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 & |
| nl-NL | Dutch (Netherlands) | DNA regio van interesse stop: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região de DNA de final de interesse: |
| ru-RU | Russian (Russian Federation) | ДНК зона интереса конец: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölgesi stop interest: |
| zh-CN | Chinese (China) | DNA 兴趣区域结束: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Nucleótido de referencia: |
| fr-FR | French (France) | Nucléotide de référence: |
| it-IT | Italian (Italy) | Nucleotide di riferimento: Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | referentie nucleotide: Synonyms: molgen |
| pl-PL | Polish (Poland) | Nukleotyd referencyjny: |
| pt-BR | Portuguese (Brazil) | Nucleotídeo de referência: |
| ru-RU | Russian (Russian Federation) | Референс нуклеотид: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Referans nukleotid: |
| zh-CN | Chinese (China) | 参考核苷酸: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Nucleótido variable: |
| fr-FR | French (France) | Nucléotide variable: |
| it-IT | Italian (Italy) | Nucleotide variabile: Synonyms: Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | variable nucleotide: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nucleotídeo variável: |
| ru-RU | Russian (Russian Federation) | Вариабельный нуклеотид: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Değişken nükleotid: |
| zh-CN | Chinese (China) | 可变核苷酸: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificación de chip de genotipos: |
| fr-FR | French (France) | Genechip ID: |
| it-IT | Italian (Italy) | Genechip, ID: Synonyms: Genetica molecolare ID Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip ID: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Genechip ID: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип ID: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip Tmlyc: |
| zh-CN | Chinese (China) | 基因芯片标识符: Synonyms: 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificación de fabricante de chip de genotipos: |
| fr-FR | French (France) | Genechip ID du fabricant: |
| it-IT | Italian (Italy) | Genechip, ID produttore: Synonyms: Genetica molecolare ID produttore Genechip Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip fabrikant ID: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | fabricante GeneChip ID: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип производитель ID: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip üreticisi Tnmlyc: |
| zh-CN | Chinese (China) | 基因芯片制造商标识符: Synonyms: 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Versión de chip de genotipos: |
| fr-FR | French (France) | Genechip version: |
| it-IT | Italian (Italy) | Genechip, versione: Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genenchip versie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Versão de Genechip: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Генечип версия: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gençip version: |
| zh-CN | Chinese (China) | 基因芯片版本: Synonyms: 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Panel de análisis de resultados discretos genéticos: |
| fr-FR | French (France) | Analyses génétiques (résultat confidentiel) panel: |
| it-IT | Italian (Italy) | Analisi genetica, panel risultato discreto: 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 & |
| nl-NL | Dutch (Netherlands) | genetische analyse discrete resultaten panel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Painel de resultados discretos de análise genética: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Генетический анализ дискретный результат панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | 遗传分析离散结果组套: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Perfil de análisis de ADN variante de secuencia discreta: |
| fr-FR | French (France) | Variation de séquence ADN panel: |
| it-IT | Italian (Italy) | DNA, panel analisi variazione sequenza discreta: 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 & |
| nl-NL | Dutch (Netherlands) | DNA analyse discrete sequentievariatie panel: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Painel de variação de análise discreta de DNA sequencial: Synonyms: Positional Variant Panel; |
| ru-RU | Russian (Russian Federation) | ДНК анализ дискретная последовательность вариация панель: Synonyms: Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| zh-CN | Chinese (China) | DNA 分析 离散序列变异组套: Synonyms: DNA 分析 离散序列变异组套（组合、 |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificador genético: |
| fr-FR | French (France) | Gène identifiant: |
| it-IT | Italian (Italy) | Gene, identificatore: Synonyms: Identificatore Identificatore del gene Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | gen-identificator: |
| pt-BR | Portuguese (Brazil) | Identificação do gene: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Ген идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Gen tanımlayıcı: |
| zh-CN | Chinese (China) | 基因标识符: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| fr-FR | French (France) | Séquence de référence génomique identifiant: |
| it-IT | Italian (Italy) | Sequenza di riferimento genomica, identificatore: Synonyms: Identificatore Identificatore della sequenza genomica di riferime Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische referentie sequentie identificator: |
| pt-BR | Portuguese (Brazil) | Identificador da sequência de referência Genomic: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Геном референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 基因组参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia transcrita: |
| fr-FR | French (France) | Séquence de référence du transcript identifiant: |
| it-IT | Italian (Italy) | Trascrizione, identificatore sequenza di riferimento: Synonyms: Identificatore Identificatore di sequenza di riferimento di trasc Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | transcriptie referentiesequentie identificator: |
| pt-BR | Portuguese (Brazil) | Transcrição identificador seqüência de referência: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Транскрипт референсная последовательность идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Transkript referans sekans tanımlayıcı: |
| zh-CN | Chinese (China) | 转录物参考序列标识符: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Nombre de alelo: |
| fr-FR | French (France) | Nom de l'allèle: |
| it-IT | Italian (Italy) | Allele, nome: Synonyms: Genetica molecolare Identificatore Nome di allele Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | allelnaam: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome do alelo: Synonyms: Identifier; |
| ru-RU | Russian (Russian Federation) | Аллель наименование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Allel adı: |
| zh-CN | Chinese (China) | 等位基因名称: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Identificador variante de secuencia de ADN: Synonyms: Cambio ADN |
| fr-FR | French (France) | ADN identifiant de la variation de séquence: |
| it-IT | Italian (Italy) | DNA, identificatore variazione sequenza: 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 & |
| nl-NL | Dutch (Netherlands) | DNA sequentievariatie identificator: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Identificador de variação da seqüência do DNA: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК последовательность вариация идентификатор: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA sekans varyasyonu tanımalayıcı: |
| zh-CN | Chinese (China) | DNA 序列变异标识符: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-MX | Spanish (Mexico) | Cambio de ADN: |
| fr-FR | French (France) | ADN variation: |
| it-IT | Italian (Italy) | DNA, cambio: Synonyms: Cambio di DNA Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Variação da sequência de DNA: Synonyms: ; |
| zh-CN | Chinese (China) | DNA 变化: Synonyms: DNA 改变 HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Tipo de cambio del ADN: |
| fr-CA | French (Canada) | Type de variation de l'ADN: |
| fr-FR | French (France) | ADN type de variation: |
| it-IT | Italian (Italy) | DNA, cambio tipo: Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Tipo de variação de sequência de DNA: Synonyms: ; |
| zh-CN | Chinese (China) | DNA 变化类型: Synonyms: DNA 改变 DNA 改变类型 HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | cambio aminoacídico: |
| fr-FR | French (France) | Acides aminés substitués: |
| it-IT | Italian (Italy) | Aminoacido, cambio: Synonyms: Cambio di aminoacido Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aminozuurwijziging: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Mudança de amino ácido: Synonyms: Finding; |
| ru-RU | Russian (Russian Federation) | Аминокислота изменение: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asit değişimi: |
| zh-CN | Chinese (China) | 氨基酸变化: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Tipo de cambio aminoacídico: |
| fr-FR | French (France) | Acides aminés type de substitution: |
| it-IT | Italian (Italy) | Aminoacido, cambio tipo: Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | aminozuurwijzigingstype: Synonyms: molgen soort |
| pt-BR | Portuguese (Brazil) | Tipo de mudança de amino ácido: Synonyms: Typ; |
| ru-RU | Russian (Russian Federation) | Аминокислота изменение тип: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Amino asit değişimi tipi: Synonyms: Tür |
| zh-CN | Chinese (China) | 氨基酸变化类型: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Nombre de la región de ADN: |
| fr-FR | French (France) | ADN nom de la région: |
| it-IT | Italian (Italy) | DNA, nome regione: Synonyms: Genetica molecolare Identificatore Nome di regione del DNA Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | DNA regionaam: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome da região do DNA: Synonyms: Gene region; |
| ru-RU | Russian (Russian Federation) | ДНК зона наименование: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | DNA bölge adı: |
| zh-CN | Chinese (China) | DNA 区域名称: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Estado alélico: |
| fr-FR | French (France) | Statut allélique: |
| it-IT | Italian (Italy) | Stato allelico: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | allelstatus: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Estado alélicas: Synonyms: Finding; |
| ru-RU | Russian (Russian Federation) | Аллельное состояние: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Allelik durum: |
| zh-CN | Chinese (China) | 等位状态: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Origen de la clase genómica: |
| fr-FR | French (France) | Source génomique: |
| it-IT | Italian (Italy) | Classe fonte Genomica: Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genomische bronklasse: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Classe da fonte Genomic: Synonyms: Genetic variant source; |
| ru-RU | Russian (Russian Federation) | Геномный источник класс: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genomik kaynak sınıfı: Synonyms: Tür |
| zh-CN | Chinese (China) | 基因组来源类: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Nombre de la variante de secuencia de ADN: Synonyms: Cambio ADN |
| fr-FR | French (France) | ADN nom de la variation de séquence: |
| it-IT | Italian (Italy) | DNA, display name variazione sequenza: 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 & |
| nl-NL | Dutch (Netherlands) | DNA weergave van de naam van de sequentievariatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Nome da sequência de DNA a apresentar variação: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | ДНК последовательность вариация отображаемое наименование: Synonyms: Кровь Кровь или Ткань Описательный Текст Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | DNA sekans varyasyonu görünen adı: |
| zh-CN | Chinese (China) | DNA 序列变异显示名称: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia de la enfermedad genética: |
| fr-FR | French (France) | Maladie génétique interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione variazione di sequenza: 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 & |
| nl-NL | Dutch (Netherlands) | genetische ziekte sequentievariatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Doença genética interpretação variação da seqüência: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетическое заболевание последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık sekans varyasyon yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病序列变异解释: Synonyms: HL7 遗传学 全血或组织; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia en el metabolismo de drogas: |
| fr-FR | French (France) | Métabolisme du médicament interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Farmaci, interpretazione variazione sequenza metabolismo: 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 & |
| nl-NL | Dutch (Netherlands) | geneesmiddelmetabolisme volgorde variatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Metabolismo de droga interpretação variação da seqüência: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Лекарство метаболизм последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | İlaç metabolizması dizisi değişkenliği yorumu: |
| zh-CN | Chinese (China) | 药物代谢 序列变异解释: Synonyms: HL7 遗传学 依次型; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Interpretación de la variación de la secuencia de la eficacia del fármaco: |
| fr-FR | French (France) | Efficacité du médicament interprétation globale de la variation de séquence: |
| it-IT | Italian (Italy) | Farmaci, interpretazione variazione sequenza efficacia: 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 & |
| nl-NL | Dutch (Netherlands) | geneesmiddelwerkzaamheid volgorde variatie interpretatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Interpretação variação da seqüência de eficácia da droga: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Лекарство эффективность последовательность вариация интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Наркотик Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | İlaç etkilik dizi değişkenlik yorumu: |
| zh-CN | Chinese (China) | 药物疗效 序列变异解释: Synonyms: HL7 遗传学 依次型; |
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
- Panel Name
- 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: |
| es-ES | Spanish (Spain) | Valoración de la variabilidad genética: |
| fr-FR | French (France) | Variant génétique étudié: |
| it-IT | Italian (Italy) | Variante genetica, valutazione: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische variant evaluatie: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Variante genética avaliação: |
| ru-RU | Russian (Russian Federation) | Генетического варианта исследование: Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik varyant değerlendirme: |
| zh-CN | Chinese (China) | 遗传变异评估: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
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