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.
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Genetic analysis summary panel
- Property
- -
- Time
- Pt
- System
- Bld/Tiss
- Scale
- -
- Method
- Molgen
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Συνοπτικός πίνακας γενετικής ανάλυσης: Synonyms: Συνοπτικός πίνακας γενετικής ανάλυσης |
| es-ES | Spanish (Spain) | Resumen del panel de análisis genéticos: |
| es-MX | Spanish (Mexico) | Panel de resumen de análisis genético: |
| 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.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genetic disease assessed
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αξιολογούμενη γενετική νόσος: Synonyms: Αναγνωριστικό Αξιολογηθείσα νόσος Αξιολογούμενη γενετική νόσος |
| es-ES | Spanish (Spain) | Valoracion de enfermedades geneticas: |
| es-MX | Spanish (Mexico) | Enfermedad genética evaluada: |
| 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)
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Medication assessed
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αξιολογούμενη φαρμακευτική αγωγή: Synonyms: Αναγνωριστικό Αξιολογούμενη φαρμακευτική αγωγή Φαρμακευτική αγωγή |
| es-ES | Spanish (Spain) | Medicacion evaluada: |
| es-MX | Spanish (Mexico) | Medicación 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.
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Genomic source class
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Κατηγορία γονιδιωματικής πηγής: Synonyms: Type Κατηγορία Κατηγορία γονιδιωματικής πηγής |
| es-ES | Spanish (Spain) | Origen de la clase genómica: |
| es-MX | Spanish (Mexico) | Clase de fuente 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γενική ερμηνεία ανάλυσης γενετικής νόσου: Synonyms: Imp Γενική ερμηνεία ανάλυσης γενετικής νόσου Γενική ερμηνεία ανάλυσης νόσου Ερμηνεία |
| es-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| es-MX | Spanish (Mexico) | Interpretación general del análisis de enfermedades genéticas: |
| 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γενική ερμηνεία φορέα ανάλυσης γενετικής νόσου: Synonyms: Imp Γενική ερμηνεία φορέα ανάλυσης γενετικής νόσου Ερμηνεία |
| es-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| es-MX | Spanish (Mexico) | Interpretación general del portador del análisis de enfermedades genéticas: |
| 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Γενική ερμηνεία ανάλυσης αποτελεσματικότητας φαρμάκου: Synonyms: Imp Γενική ερμηνεία ανάλυσης αποτελεσματικότητας φαρμάκου Ερμηνεία Φάρμακο |
| es-ES | Spanish (Spain) | Evaluacion total de la eficacia de marcadores de drogas: |
| es-MX | Spanish (Mexico) | Interpretación general del análisis de eficacia del fármaco: |
| 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.
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
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Ερμηνεία μεταβολικής δραστηριότητας προϊόντος γονιδίου: Synonyms: Imp Γονίδιο Δραστηριότητα Ερμηνεία Ερμηνεία μεταβολικής δραστηριότητας προϊόντος γονιδίου |
| es-ES | Spanish (Spain) | Interpretación de la actividad metabólica del producto genético: |
| es-MX | Spanish (Mexico) | 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genetic analysis summary report
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Συνοπτική έκθεση γενετικής ανάλυσης: Synonyms: Αναφορά Εύρεση Συνοπτική έκθεση γενετικής ανάλυσης |
| es-ES | Spanish (Spain) | Informe de enfemedades genéticas: |
| es-MX | Spanish (Mexico) | Informe resumido del análisis genético: |
| 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Λόγος συμπληρωματικής σημείωσης μελέτης: Synonyms: Txt Λόγος μελέτης Λόγος συμπληρωματικής σημείωσης μελέτης Μελέτη Σημείωση |
| es-ES | Spanish (Spain) | Razón para el estudio de notas complementarias: |
| es-MX | Spanish (Mexico) | Razón del estudio nota adicional: |
| 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.
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
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Πίνακας κάλυψης ανάλυσης περιοχής DNA: Synonyms: DNA Περιοχή Πίνακας κάλυψης ανάλυσης περιοχής DNA |
| es-ES | Spanish (Spain) | Panel de cobertura de analisis de una region de ADN: |
| es-MX | Spanish (Mexico) | Panel de cobertura de prueba de análisis de región 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.
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
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Πίνακας περιοχής ενδιαφέροντος DNA: Synonyms: DNA Περιοχή Περιοχή ενδιαφέροντος Περιοχή ενδιαφέροντος DNA Πίνακας περιοχής ενδιαφέροντος DNA |
| es-ES | Spanish (Spain) | Perfil región de interés del ADN: |
| es-MX | Spanish (Mexico) | Panel de la 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
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό αλληλουχίας γονιδιωματικής αναφοράς: Synonyms: Ακολουθία αναφοράς Αναγνωριστικό Αναγνωριστικό αλληλουχίας γονιδιωματικής αναφοράς |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| es-MX | Spanish (Mexico) | 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αρχή περιοχής ενδιαφέροντος DNA: Synonyms: DNA Prid Αρχή περιοχής ενδιαφέροντος DNA Περιοχή Περιοχή ενδιαφέροντος Περιοχή ενδιαφέροντος DNA |
| es-ES | Spanish (Spain) | ADN región de comienzo: |
| es-MX | Spanish (Mexico) | Inicio de la región de interés del ADN: |
| 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Τέλος περιοχής ενδιαφέροντος DNA: Synonyms: DNA Prid Περιοχή Περιοχή ενδιαφέροντος Περιοχή ενδιαφέροντος DNA Τέλος περιοχής ενδιαφέροντος DNA |
| es-ES | Spanish (Spain) | ADN región de parada: |
| es-MX | Spanish (Mexico) | Parada de la región de interés del ADN: |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Reference nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Νουκλεοτίδιο αναφοράς: Synonyms: Prid Νουκλεοτίδιο αναφοράς |
| es-ES | Spanish (Spain) | Nucleótido de referencia: |
| es-MX | Spanish (Mexico) | 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Variable nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Μεταβλητό νουκλεοτίδιο: Synonyms: Prid Μεταβλητό νουκλεοτίδιο |
| es-ES | Spanish (Spain) | Nucleótido variable: |
| es-MX | Spanish (Mexico) | Alelo alternativo genómico: |
| 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
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
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό Genechip: Synonyms: Αναγνωριστικό Αναγνωριστικό Genechip |
| es-ES | Spanish (Spain) | Identificación de chip de genotipos: |
| es-MX | Spanish (Mexico) | ID de Genechip: |
| 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).
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
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό κατασκευαστή Genechip: Synonyms: Αναγνωριστικό Αναγνωριστικό κατασκευαστή Genechip |
| es-ES | Spanish (Spain) | Identificación de fabricante de chip de genotipos: |
| es-MX | Spanish (Mexico) | ID del fabricante de Genechip: |
| 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
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
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.26 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Έκδοση Genechip: Synonyms: Αναγνωριστικό Έκδοση Έκδοση Genechip |
| es-ES | Spanish (Spain) | Versión de chip de genotipos: |
| es-MX | Spanish (Mexico) | Versión Genechip: |
| 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.
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Genetic analysis discrete result panel
- Property
- -
- Time
- Pt
- System
- Bld/Tiss
- Scale
- -
- Method
- Molgen
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Πίνακας διακριτών αποτελεσμάτων γενετικής ανάλυσης: Synonyms: Πίνακας διακριτών αποτελεσμάτων γενετικής ανάλυσης |
| es-ES | Spanish (Spain) | Panel de análisis de resultados discretos genéticos: |
| es-MX | Spanish (Mexico) | Panel de resultados discretos de análisis genético: |
| 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.
Observation Required in Panel
Required
Fully-Specified Name
- Component
- DNA analysis discrete sequence variation panel
- Property
- -
- Time
- Pt
- System
- Bld/Tiss
- Scale
- -
- Method
- Molgen
Basic Attributes
- Class
- PANEL.HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.27
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Πίνακας παραλλαγής διακριτής αλληλουχίας ανάλυσης DNA: Synonyms: DNA Πίνακας παραλλαγής διακριτής αλληλουχίας ανάλυσης DNA Πίνακας παραλλαγών αλληλουχίας |
| es-ES | Spanish (Spain) | Perfil de análisis de ADN variante de secuencia discreta: |
| es-MX | Spanish (Mexico) | Panel de variación de secuencia discreta de análisis de ADN: |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό γονιδίου: Synonyms: Αναγνωριστικό Αναγνωριστικό γονιδίου Γονίδιο |
| es-ES | Spanish (Spain) | Identificador genético: |
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό αλληλουχίας γονιδιωματικής αναφοράς: Synonyms: Ακολουθία αναφοράς Αναγνωριστικό Αναγνωριστικό αλληλουχίας γονιδιωματικής αναφοράς |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia genómica: |
| es-MX | Spanish (Mexico) | 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).
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Transcript reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό αλληλουχίας αναφοράς μεταγραφής: Synonyms: Ακολουθία αναφοράς Αναγνωριστικό Αναγνωριστικό αλληλουχίας αναφοράς μεταγραφής |
| es-ES | Spanish (Spain) | Identificador de secuencia de referencia transcrita: |
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia de la transcripción: |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allele name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Όνομα αλληλόμορφου: Synonyms: Αναγνωριστικό Όνομα Όνομα αλληλόμορφου |
| es-ES | Spanish (Spain) | Nombre de alelo: |
| es-MX | Spanish (Mexico) | 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#)
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA sequence variation identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αναγνωριστικό παραλλαγής αλληλουχίας DNA: Synonyms: DNA Αναγνωριστικό Αναγνωριστικό παραλλαγής αλληλουχίας DNA |
| es-ES | Spanish (Spain) | Identificador variante de secuencia de ADN: Synonyms: Cambio ADN |
| es-MX | Spanish (Mexico) | Identificador de variación de secuencia de 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.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αλλαγή DNA: Synonyms: DNA Αλλαγή DNA Εύρεση |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.64 (NAM)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Τύπος αλλαγής DNA: Synonyms: DNA Type Αλλαγή DNA Τύπος αλλαγής DNA |
| es-ES | Spanish (Spain) | Tipo de cambio del ADN: |
| es-MX | Spanish (Mexico) | Tipo de cambio de 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.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acid change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αλλαγή αμινοξέων: Synonyms: Αλλαγή αμινοξέων Εύρεση |
| es-ES | Spanish (Spain) | cambio aminoacídico: |
| es-MX | Spanish (Mexico) | Cambio de aminoácidos: |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Amino acid change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Τύπος αλλαγής αμινοξέων: Synonyms: Type Αλλαγή αμινοξέων Τύπος αλλαγής αμινοξέων |
| es-ES | Spanish (Spain) | Tipo de cambio aminoacídico: |
| es-MX | Spanish (Mexico) | Tipo de cambio de aminoácidos: |
| 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA region name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Όνομα περιοχής DNA: Synonyms: DNA Αναγνωριστικό Όνομα Όνομα περιοχής DNA Περιοχή |
| es-ES | Spanish (Spain) | Nombre de la región de ADN: |
| es-MX | Spanish (Mexico) | 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Κατάσταση αλληλομόρφων: Synonyms: Εύρεση Κατάσταση Κατάσταση αλληλομόρφων |
| es-ES | Spanish (Spain) | Estado alélico: |
| es-MX | Spanish (Mexico) | 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.
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genomic source class
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Κατηγορία γονιδιωματικής πηγής: Synonyms: Type Κατηγορία Κατηγορία γονιδιωματικής πηγής |
| es-ES | Spanish (Spain) | Origen de la clase genómica: |
| es-MX | Spanish (Mexico) | Clase de fuente 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.56 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Όνομα εμφάνισης παραλλαγής αλληλουχίας DNA: Synonyms: DNA Txt Όνομα Όνομα εμφάνισης παραλλαγής αλληλουχίας DNA |
| es-ES | Spanish (Spain) | Nombre de la variante de secuencia de ADN: Synonyms: Cambio ADN |
| es-MX | Spanish (Mexico) | Nombre para mostrar de la variación de la secuencia de 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Ερμηνεία παραλλαγών αλληλουχίας γενετικών ασθενειών: Synonyms: Imp Ερμηνεία Ερμηνεία παραλλαγών αλληλουχίας γενετικών ασθενειών |
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia de la enfermedad genética: |
| es-MX | Spanish (Mexico) | Interpretación de la variación de la 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Ερμηνεία παραλλαγής αλληλουχίας μεταβολισμού φαρμάκου: Synonyms: Imp Ερμηνεία Ερμηνεία παραλλαγής αλληλουχίας μεταβολισμού φαρμάκου Φάρμακο |
| es-ES | Spanish (Spain) | Interpretación de la variante de secuencia en el metabolismo de drogas: |
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia del metabolismo de los fármacos: |
| 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.
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
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Ερμηνεία παραλλαγής αλληλουχίας αποτελεσματικότητας φαρμάκου: Synonyms: Imp Ερμηνεία Ερμηνεία παραλλαγής αλληλουχίας αποτελεσματικότητας φαρμάκου Φάρμακο |
| es-ES | Spanish (Spain) | Interpretación de la variación de la secuencia de la eficacia del fármaco: |
| es-MX | Spanish (Mexico) | 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.
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73 (MIN)
- 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 |
|---|---|---|
| el-GR | Greek (Greece) | Αξιολόγηση γενετικών παραλλαγών: Synonyms: Αξιολόγηση Αξιολόγηση γενετικών παραλλαγών Εύρεση |
| es-ES | Spanish (Spain) | Valoración de la variabilidad genética: |
| es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
| 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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