81247-9
Master HL7 genetic variant reporting panel
Trial
81306-3 Variables that apply to the overall study
Fully-Specified Name
- Component
- Variables that apply to the overall study
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Overall study variables type
- Display Name
- Variables that apply to the overall study
- Consumer Name Alpha Get Info
- Variables that apply to the overall study
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.61
- Change Reason
- Changed Property from "Type" and Scale from "Nom" to align with the current model for naming panels in LOINC.
- Order vs. Observation
- Observation
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variables que se aplican al estudio general: |
| es-ES | Spanish (Spain) | Variables que se aplican al estudio general: |
| fr-FR | French (France) | Variables s'appliquant à l'étude globale: |
| it-IT | Italian (Italy) | Variabili applicate allo studio complessivo: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 适用于整个检查的变量指标: Synonyms: 全面; |
53577-3 Reason for study
Term Description
The freeform text that is entered by the ordering provider to further annotate the coded Reason for Study [LOINC: 51967-8] associated with an ordered test. In HL7 v2 messages, OBR-31 should be used to report the reason for study.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Reason for study additional note
- Property
- Txt
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nar
- Method
- Molgen
Additional Names
- Short Name
- Reason for study
- Display Name
- Reason for study additional note Molgen Nar (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reason for study additional note, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.26
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 12562
HL7® Attributes
HL7® Field ID- OBR-31
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 51962-9 | Pharmacogenetic DNA analysis panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Razón del estudio nota adicional: |
| 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; |
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
Optional
Fully-Specified Name
- Component
- Genetic disease assessed
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis assessed
- Display Name
- Genetic disease assessed Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genetic disease assessed, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 62389-2 | Chromosome analysis master panel |
| 55233-1 | Genetic analysis master panel |
| 51966-0 | Genetic disease DNA analysis panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Enfermedad genética evaluada: |
| 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
- 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; |
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
Conditional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
36908-2 Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Term Description
For targeted mutation analysis, report the discrete mutations the study is designed to detect. In HL7 V2 they can be reported in one observation as a list separated by repeat delimiters OR as a series of separate OBX segments, one per mutation tested for. In FHIR, multiple coded entries can not be reported as a list in one observation value field. They must be reported as the values of separate observations.
Source: Regenstrief LOINC
Condition for Inclusion
Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene Mut Tested Bld/T
- Display Name
- Gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.13
- Last Updated
- Version 2.73
- Change Reason
- Changed Component from "Gene XXX mutations tested for" to "Gene mutations tested for" to make it more clear that the mutations tested for are the subject of this concept rather than the gene, and removing "XXX" does not change the meaning of this term.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 7918
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 |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Mutaciones genéticas probadas: |
| es-AR | Spanish (Argentina) | gen XXX: |
| es-ES | Spanish (Spain) | Gen Análisis de mutaciones para...: |
| fr-FR | French (France) | Gène mutations recherchées: |
| fr-CA | French (Canada) | Gène, Mutations testées: |
| it-IT | Italian (Italy) | Gene, mutazioni testate per: Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | 유전자 XXX 돌연변이 검사용: |
| nl-NL | Dutch (Netherlands) | gen geteste mutaties: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Gene XXX teste para mutação do gene: Synonyms: Identity or presence; |
| tr-TR | Turkish (Turkey) | Gen mutasyonlar, test edilen: |
| zh-CN | Chinese (China) | 基因 已测试的突变: Synonyms: 全血或组织; |
51959-5 Range(s) of DNA sequence examined
Term Description
This term is used to report the region(s) of interest for sequencing studies as one or more numeric ranges that identify the parts of the reference sequence that are sequenced. These can be recorded as one or more HL7 numeric ranges using repeat delimiters to seperate multiple such ranges. They can also be recorded singly, one per OBX, using OBX-4 to distinguish these repeats with the same Observation ID. However, such detailed specification of the sequencing region of interest is rare, in part because this information is often proprietary, and the region of interest is reported as a text description instead, e.g., "Sequenced all of the coding, and appropriate flanking regions," using [LOINC: 81293-3].
Source: Regenstrief LOINC
Condition for Inclusion
Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA region of interest
- Property
- NumRange
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA region of interest NumRange
- Display Name
- DNA region of interest Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA region of interest, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.58
- Change Reason
- Changed Property from ID to NumRange to clarify the meaning of the concept as the range(s) of DNA sequences examined.; Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Región de ADN de interés: |
| es-ES | Spanish (Spain) | Region de interes del ADN: |
| fr-FR | French (France) | ADN région d'intérêt: |
| it-IT | Italian (Italy) | DNA, regione di interesse: Synonyms: Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Regione di interesse del DNA Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | DNA região de interesse: Synonyms: ; |
| zh-CN | Chinese (China) | DNA 兴趣区域: Synonyms: HL7 遗传学 全血或组织; |
81293-3 Description of ranges of DNA sequences examined
Term Description
This term is used to report a narrative description of the range(s) of DNA sequences examined in this sequencing study. Genetic test reports only rarely include explicit numeric ranges (which would be reported using [LOINC: 51959-5]) beause they are often proprietary, and more often describe the regions examined in narrative. For example, "all coding regions and appropriate flanking regions." To report the region of interest (e.g., in terms of introns and exons) rather than the specific DNA sequences examined, [LOINC: 47999-8] may be used.
Source: Regenstrief LOINC
Condition for Inclusion
Either the mutations tested or the range(s) of DNA sequences examined (as structured or narrative data) should be included.
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Range(s) of DNA sequences examined
- Property
- Txt
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- DNA range(s) examined Nar
- Display Name
- Range(s) of DNA sequences examined Nar
- Consumer Name Alpha Get Info
- Range(s) of DNA Sequences Examined
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Rango (s) de secuencias de ADN examinadas: |
| es-ES | Spanish (Spain) | Rango (s) de secuencias de ADN examinadas: |
| fr-FR | French (France) | ADN séquences examinés: |
| it-IT | Italian (Italy) | Range(s) delle sequenze di DNA esaminato: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) Testo |
| zh-CN | Chinese (China) | 所检查 DNA 序列范围: Synonyms: DNA 序列检查范围; |
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
Required
Fully-Specified Name
- Component
- Genetic disease analysis overall interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis anl interp-Imp
- Display Name
- Genetic disease analysis overall interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease analysis overall interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8725
Preferred Answer List LL541-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) | LA6576-8 | ||
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 | ||
| Failure | LA9664-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 51966-0 | Genetic disease DNA analysis panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación general del análisis de enfermedades genéticas: |
| 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.
83006-7 Deletion-duplication overall interpretation
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Deletion-duplication overall interpretation
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Del-dup interp Patient-Imp
- Display Name
- Del-dup [Interp]
- Consumer Name Alpha Get Info
- Del-dup
Basic Attributes
- Class
- MOLPATH.DELDUP
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4166-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| No deletion or duplication detected in studied region | LA26803-9 | ||
| Deletion and/or duplication detected in studied regions | LA26804-7 | ||
| Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación general de supresión-duplicación: |
| es-ES | Spanish (Spain) | Interpretación general de deleción-duplicación: |
| fr-FR | French (France) | Délétion-duplication interprétation globale: |
| it-IT | Italian (Italy) | Delezione-duplicazione, interpretazione complessiva: Synonyms: Delezione o duplicazione genica Impressione/interpretazione di studio Interpretazione complessiva di delezione-duplicazi Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 缺失-重复总体解释: Synonyms: 全面; |
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.
51969-4 Genetic analysis report
Term Description
Narative report in disease diagnostic-based format.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genetic analysis summary report
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- Gene analysis narr rpt Doc
- Display Name
- Genetic analysis narrative report Molgen Doc (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic analysis narrative report, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 3738
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 62389-2 | Chromosome analysis master panel |
| 55233-1 | Genetic analysis master panel |
| 51966-0 | Genetic disease DNA analysis panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Informe resumido del análisis genético: |
| 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; |
81291-7 Variant ISCN
Term Description
ISCN is a syntax for describing cytogenetic findings, from classical karyotypes to details that can be observed with copy number methodologies. Using ISCN nomenclature is highly recommended for reporting structural variants.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Structural variant ISCN name
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Struct var ISCN name
- Display Name
- Structural variant ISCN name Nom
- Consumer Name Alpha Get Info
- Structural Variant ISCN Name
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre ISCN de variante estructural: |
| es-ES | Spanish (Spain) | Nombre de la variante estructural ISCN: |
| fr-FR | French (France) | Variant structurel ISCN nom: |
| it-IT | Italian (Italy) | Variante strutturale nome ISCN: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异 ISCN 命名: Synonyms: 分子病理学; |
62374-4 Human reference sequence assembly version
Term Description
The NCBI build id for human genome assemblies.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Human reference sequence assembly release number
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Human ref seq assembly+build
- Display Name
- Human reference sequence assembly and build Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Human reference sequence assembly and build, Blood or tissue specimen
Basic Attributes
- Class
- HL7.CYTOGEN
- Type
- Laboratory
- First Released
- Version 2.34
- Last Updated
- Version 2.64
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Answer list binding from Normative to Preferred to allow reporting of new versions over time
- Order vs. Observation
- Observation
Preferred Answer List LL1040-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| NCBI Build 34 | 34 | LA14032-9 | |
| GRCh37 | GRCh37 | LA14029-5 | |
| NCBI Build 36.1 | 36.1 | LA14030-3 | |
| NCBI Build 35 | 35 | LA14031-1 | |
| GRCh38 | GRCh38 | LA26806-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 62389-2 | Chromosome analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Número de versión del conjunto de secuencia de referencia humana: |
| es-ES | Spanish (Spain) | Identificador único de registro de secuencia humana de referencia NCBI: |
| fr-FR | French (France) | Numéro de séquence de référence humaine: |
| it-IT | Italian (Italy) | Numero di release assemblea sequenza umana di riferimento: Synonyms: Genetica molecolare Identificatore Punto nel tempo (episodio) Referto clinico di citogenetica Sangue Sangue o Tessuto Tessuto & |
| ru-RU | Russian (Russian Federation) | Человека генома справочника сборки релиза номер: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Human reference sequence assembly release number: |
| zh-CN | Chinese (China) | 人类参考基因组序列组装发布版本号: Synonyms: HL7 细胞遗传学 个数; |
81303-0 HGVS version [ID]
Term Description
Report the version of HGVS used for all observations specified using HGVS nomenclature. Any change in the HGVS recommendations will get a new version number based on the date of the change. The format for reporting the HGVS version used is:
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- HGVS version
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- HGVS version
- Display Name
- HGVS version Nom [ID]
- Consumer Name Alpha Get Info
- HGVS version
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Versión HGVS: |
| es-ES | Spanish (Spain) | Versión HGVS: |
| fr-FR | French (France) | HGVS version: |
| it-IT | Italian (Italy) | HGVS, versione: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) versione HGVS |
| zh-CN | Chinese (China) | HGVS 版本: Synonyms: HGVS 命名规则版本; |
82115-7 dbSNP version [ID]
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- dbSNP version
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- dbSNP version
- Display Name
- dbSNP version Nom [ID]
- Consumer Name Alpha Get Info
- dbSNP version
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | versión dbSNP: |
| es-ES | Spanish (Spain) | Versión dbSNP (base de datos de polimorfismos de nucleótido simple): |
| fr-FR | French (France) | dbSNP version: |
| it-IT | Italian (Italy) | versione dbSNP: Synonyms: database dei polimorfismi di un signolo nucleotide Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | dbSNP 版本: Synonyms: dbSNP 数据库版本; |
83007-5 COSMIC version [ID]
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- COSMIC version
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- COSMIC version
- Display Name
- COSMIC version Nom [ID]
- Consumer Name Alpha Get Info
- COSMIC version
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Versión COSMIC: |
| es-ES | Spanish (Spain) | Versión COSMIC: |
| fr-FR | French (France) | Version COSMIC: |
| it-IT | Italian (Italy) | COSMIC versione: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | COSMIC 版本: Synonyms: Catalogue Of Somatic Mutations In Cancer; |
83008-3 ClinVar version [ID]
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- ClinVar version
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- ClinVar version
- Display Name
- ClinVar version Nom [ID]
- Consumer Name Alpha Get Info
- ClinVar version
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Versión ClinVar: |
| es-ES | Spanish (Spain) | Versión ClinVar: |
| fr-FR | French (France) | Version ClinVar: |
| it-IT | Italian (Italy) | Versione ClinVar: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | ClinVar 版本: Synonyms: 人类遗传变异与表型关系数据库; |
81250-3 Discrete genetic variant panel
Term Description
This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Simple variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Simple var pnl
- Display Name
- Simple variant panel
- Consumer Name Alpha Get Info
- Simple variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de variante simple: |
| es-ES | Spanish (Spain) | Panel de variante simple: |
| fr-FR | French (France) | Variant simple panel: |
| it-IT | Italian (Italy) | Variante semplice panel: Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 简单变异组套: Synonyms: 分子病理学; |
83005-9 Variant category
Fully-Specified Name
- Component
- Variant category
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Variant category
- Display Name
- Variant category Nom
- Consumer Name Alpha Get Info
- Variant category
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4165-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Simple variant | LA26801-3 | ||
| Structural variant | LA26802-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Categoría de variante: |
| es-ES | Spanish (Spain) | Categoría variante: |
| fr-FR | French (France) | Catégorie de variant: |
| it-IT | Italian (Italy) | Categoria variante: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 变异类别: Synonyms: 分子病理学; |
81252-9 Discrete genetic variant
Term Description
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Simple variant
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Simple var ID
- Display Name
- Simple variant Nom [ID]
- Consumer Name Alpha Get Info
- Simple variant
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante simple: |
| es-ES | Spanish (Spain) | Variante simple: |
| fr-FR | French (France) | Variant simple: |
| it-IT | Italian (Italy) | Variante semplice: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 简单变异: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
51958-7 Transcript reference sequence [ID]
Term Description
This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Transcript reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Transcript ref sequence ID
- Display Name
- Transcript reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Transcript reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14335
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia de la transcripción: |
| 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; |
48004-6 DNA change (c.HGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA change
- Display Name
- DNA change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8938
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cambio del ADN: |
| 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; |
48005-3 Amino acid change (pHGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acid change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change
- Display Name
- Amino acid change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4958
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de aminoácidos: |
| 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; |
48019-4 DNA change type
Term Description
Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA Change Type
- Display Name
- DNA change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.64
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
- Order vs. Observation
- Observation
Preferred Answer List LL4033-8
| 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 | ||
| Copy number gain | LA14033-7 | ||
| Copy number loss | LA14034-5 | ||
| Mobile element insertion | LA26324-6 | ||
| Novel sequence insertion | LA26325-3 | ||
| Tandem duplication | LA26326-1 | ||
| Intrachromosomal breakpoint | LA26327-9 | ||
| Interchromosomal breakpoint | LA26328-7 | ||
| Translocation | LA26331-1 | ||
| Complex | LA26330-3 | ||
| Sequence alteration | LA26329-5 |
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; |
48006-1 Amino acid change [Type]
Term Description
Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Amino acid change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change type
- Display Name
- Amino acid change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL380-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Wild type | LA9658-1 | ||
| Deletion | LA6692-3 | ||
| Duplication | LA6686-5 | ||
| Frameshift | LA6694-9 | ||
| Initiating Methionine | LA6695-6 | ||
| Insertion | LA6687-3 | ||
| Insertion and Deletion | LA9659-9 | ||
| Missense | LA6698-0 | ||
| Nonsense | LA6699-8 | ||
| Silent | LA6700-4 | ||
| Stop Codon Mutation | LA6701-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de cambio de aminoácidos: |
| 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; |
48013-7 Genomic reference sequence [ID]
Term Description
This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genomic reference sequence ID
- Display Name
- Genomic reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genomic reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| 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; |
81290-9 Genomic DNA change (gHGVS)
Term Description
The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic DNA change
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Struct var HGVS name
- Display Name
- Genomic DNA change (g.HGVS) Nom
- Consumer Name Alpha Get Info
- Genomic DNA Change (g.HGVS)
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de ADN genómico: |
| es-ES | Spanish (Spain) | Nombre de la variante estructural HGVS: |
| fr-FR | French (France) | Variation ADN génomique: |
| it-IT | Italian (Italy) | Variante strutturale nome HGVS: Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 基因组 DNA 变化: Synonyms: DNA 改变 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Reference nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Ref nucleotide
- Display Name
- Reference nucleotide Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reference nucleotide, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nucleótido de referencia: |
| 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; |
81254-5 Genomic allele start-end
Term Description
The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Variant exact start-end
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gen allele loc ID
- Display Name
- Genomic allele start-end
- Consumer Name Alpha Get Info
- Variant exact start-end
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.68
- Change Reason
- Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante de inicio-fin exacto: |
| es-ES | Spanish (Spain) | Localización del alelo genómico: |
| fr-FR | French (France) | Variant exact (Début-fin): |
| it-IT | Italian (Italy) | Posizione genomica dell'allele: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异确切起止位置: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Variable nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Alt allele
- Display Name
- Genomic alternate allele Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genomic alternate allele, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Alelo alternativo genómico: |
| 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; |
84414-2 Haplotype name
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Haplotype name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Haplotype name Bld/T
- Display Name
- Haplotype name Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Haplotype name, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre del haplotipo: |
| es-ES | Spanish (Spain) | Nombre Haplotipo: |
| fr-FR | French (France) | Nom haplotype: |
| it-IT | Italian (Italy) | Aplotipo, nome: Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | 单体型名称: Synonyms: 全血或组织; |
81255-2 dbSNP [ID]
Term Description
The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- dbSNP
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- dbSNP ID
- Display Name
- dbSNP Nom [ID]
- Consumer Name Alpha Get Info
- dbSNP
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | dbSNP: |
| es-ES | Spanish (Spain) | dbSNP: |
| fr-FR | French (France) | dbSNP: |
| it-IT | Italian (Italy) | dbSNP: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | dbSNP: Synonyms: 分子病理学; |
81257-8 CIGAR [ID]
Term Description
This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CIGAR
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CIGAR var ID
- Display Name
- CIGAR Nom [ID]
- Consumer Name Alpha Get Info
- CIGAR
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | CIGARRO: |
| es-ES | Spanish (Spain) | CIGAR: |
| fr-FR | French (France) | CIGAR: |
| it-IT | Italian (Italy) | CIGAR: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| pl-PL | Polish (Poland) | CIGAR: Synonyms: CIGAR |
| zh-CN | Chinese (China) | CIGAR: Synonyms: 分子病理学; |
48001-2 Cytogenetic (chromosome) location
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Chromosome region
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Cyto loc ID
- Display Name
- Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Cytogenetic location, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- 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 |
|---|---|
| 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) | Región cromosómica: |
| es-MX | Spanish (Mexico) | Región cromosómica: |
| fr-FR | French (France) | Chromosome région: |
| it-IT | Italian (Italy) | Regione cromosomica: Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | 염색체 부위: |
| nl-NL | Dutch (Netherlands) | chromosoomgebied: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região do cromossomo: Synonyms: Chromosomes; |
| ru-RU | Russian (Russian Federation) | Хромосома участок: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Kromozom bölgesi: |
| zh-CN | Chinese (China) | 染色体区域: Synonyms: 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
- 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; |
81304-8 Variant analysis method [Type]
Term Description
The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Structural variant analysis method
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Struct var analysis method
- Display Name
- Structural variant analysis method Nom
- Consumer Name Alpha Get Info
- Structural variant analysis method
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4048-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Sequencing | LA26398-0 | ||
| Oligo aCGH | LA26399-8 | ||
| SNP array | LA26400-4 | ||
| BAC aCGH | LA26401-2 | ||
| Curated | LA26402-0 | ||
| Digital array | LA26403-8 | ||
| FISH | LA26404-6 | ||
| Gene expression array | LA26405-3 | ||
| Karyotyping | LA26406-1 | ||
| MAPH | LA26407-9 | ||
| MALDI-TOF | LA26408-7 | ||
| Merging | LA26808-8 | ||
| Multiple complete digestion | LA26414-5 | ||
| MLPA | LA26415-2 | ||
| Optical mapping | LA26417-8 | ||
| PCR | LA26418-6 | ||
| qPCR (real-time PCR) | LA26419-4 | ||
| ROMA | LA26420-2 | ||
| Denaturing high-pressure liquid chromatography (DHPLC) | LA26809-6 | ||
| DNA hybridization | LA26810-4 | ||
| Computational analysis | LA26811-2 | ||
| Single-stranded conformational polymorphism (SSCP) | LA26812-0 | ||
| Restriction fragment length polymorphism (RFLP) | LA26813-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Método de análisis de variantes estructurales: |
| es-ES | Spanish (Spain) | Métodos de análisis de la variante estrucutral: |
| fr-FR | French (France) | Variant structurel méthode d'analyse: |
| it-IT | Italian (Italy) | Metodo di analisi della variante strutturale: Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异分析方法: Synonyms: 分子病理学; |
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
Optional
Fully-Specified Name
- Component
- Genetic disease sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis seq var interp-Imp
- Display Name
- Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11949
Preferred Answer List LL4034-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pathogenic | LA6668-3 | ||
| Likely pathogenic | LA26332-9 | ||
| Uncertain significance | LA26333-7 | ||
| Likely benign | LA26334-5 | ||
| Benign | LA6675-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la enfermedad genética: |
| 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; |
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
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genetic var assess
- Display Name
- Genetic variant assessment Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic variant assessment, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13238
Preferred Answer List LL1971-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) | LA9633-4 | ||
| Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) | LA9634-2 | ||
| No call | LA18198-4 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
| 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
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.
81259-4 Associated phenotype
Term Description
The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Associated phenotype
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Prob assoc phenotype
- Display Name
- Associated phenotype
- Consumer Name Alpha Get Info
- Associated phenotype
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.71
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fenotipo asociado: |
| es-ES | Spanish (Spain) | Fenotipo asociado probable: |
| fr-FR | French (France) | Phénotype associé: |
| it-IT | Italian (Italy) | Probabile fenotipo associato: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 关联表型: Synonyms: 关联（相关、 |
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
Conditional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allelic state
- Display Name
- Allelic state Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Allelic state, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Preferred Answer List LL381-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heteroplasmic | LA6703-8 | ||
| Homoplasmic | LA6704-6 | ||
| Homozygous | LA6705-3 | ||
| Heterozygous | LA6706-1 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado alélico: |
| 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; |
81258-6 Sample variant allelic frequency [NFr]
Term Description
The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Sample variant allelic frequency
- Property
- NFr
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Sample VAF
- Display Name
- Sample variant allelic frequency
- Consumer Name Alpha Get Info
- Sample variant allelic frequency
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.73
- Change Reason
- Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8648
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Frecuencia alélica variante de muestra: |
| es-ES | Spanish (Spain) | Frecuencia alélica variante de muestra: Synonyms: Cuantitativo |
| fr-FR | French (France) | Example de fréquence de variant allélique: |
| it-IT | Italian (Italy) | Frequenza allelica della variante campione: Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 样品等位基因频率: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
82121-5 Allelic read depth
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic read depth
- Property
- Num
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Allelic read depth
- Display Name
- Allelic read depth [#]
- Consumer Name Alpha Get Info
- Allelic read depth
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Profundidad de lectura alélica: |
| es-ES | Spanish (Spain) | Profundidad de lectura alélica: Synonyms: Cuantitativo |
| fr-FR | French (France) | Profondeur allélique: |
| it-IT | Italian (Italy) | profondità di lettura allelica: Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因读取深度: Synonyms: 个数; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
82120-7 Allelic phase
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Allelic phase
- Display Name
- Allelic phase Nom
- Consumer Name Alpha Get Info
- Allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4025-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 1st set of variants in cis relation to each other | LA26814-6 | ||
| 2nd set of variants in cis relation to each other | LA26815-3 | ||
| 3rd set of variants in cis relation to each other | LA26816-1 | ||
| 4th set of variants in cis relation to each other | LA26817-9 | ||
| 5th set of variants in cis relation to each other | LA26818-7 | ||
| Maternal | LA26320-4 | ||
| Paternal | LA26321-2 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 | ||
| Other, Please specify: | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fase alélica: |
| es-ES | Spanish (Spain) | Fase alélica: |
| fr-FR | French (France) | Phase allélique: |
| it-IT | Italian (Italy) | Fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因类型: Synonyms: 分子病理学; |
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.
82309-6 Basis for allelic phase [Type]
Part Descriptions
LP220487-5 Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Basis for allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Basis allelic phase
- Display Name
- Basis for allelic phase Nom
- Consumer Name Alpha Get Info
- Basis for allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4050-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Directly measured | LA26426-9 | ||
| Family DNA | LA26427-7 | ||
| Family history | LA26428-5 | ||
| Inferred from population data | LA26429-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Base para la fase alélica: |
| es-ES | Spanish (Spain) | Bases para la fase alélica: |
| fr-FR | French (France) | Bases de la phase allélique: |
| it-IT | Italian (Italy) | Fondamenti di fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | basis voor allelische fase: |
| zh-CN | Chinese (China) | 等位基因相的依据: Synonyms: 分子病理学; |
81297-4 Structural variant panel
Fully-Specified Name
- Component
- Structural variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Struct variant pnl
- Display Name
- Structural variant panel
- Consumer Name Alpha Get Info
- Structural variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de variante estructural: |
| es-ES | Spanish (Spain) | Panel de variante estrucutral: |
| fr-FR | French (France) | Variant structurel panel: |
| it-IT | Italian (Italy) | Variante strutturale,panel: Synonyms: Panel variante strutturale Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 结构变异组套: Synonyms: 分子病理学; |
82155-3 Genomic structural variant copy number
Fully-Specified Name
- Component
- Genomic structural variant copy number
- Property
- Num
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Gen struct var copy num
- Display Name
- Genomic structural variant copy number [#]
- Consumer Name Alpha Get Info
- Genomic structural variant copy number
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11285
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Número de copia de la variante estructural genómica: |
| es-ES | Spanish (Spain) | Número de copias de la variante estructural genómica: Synonyms: Cuantitativo |
| fr-FR | French (France) | Variant structurel génomique nombre de copies: |
| it-IT | Italian (Italy) | Numero copia della variante strutturale genomica: Synonyms: Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 基因组结构变异拷贝数量: Synonyms: 个数; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
81299-0 Structural variant reported arrCGH [Ratio]
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Structural variant reported arrCGH
- Property
- Ratio
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Struct var rep arrCGH Rto
- Display Name
- Structural variant reported arrCGH [Ratio]
- Consumer Name Alpha Get Info
- Structural variant reported arrCGH
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante estructural reportada arrCGH: |
| es-ES | Spanish (Spain) | Variante estructural determinada por array-CGH: Synonyms: Cuantitativo |
| fr-FR | French (France) | Variant structurel reporté CGH Array: |
| it-IT | Italian (Italy) | Variante strutturale riportata arrCGH: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 微阵列比较基因组杂交法所报告的结构变异: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| {Ratio} | Example UCUM Units |
81300-6 Structural variant [Length]
Term Description
Length of the structural variant, which information may be ascertained in some but not all types of structural variants.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Structural variant
- Property
- Len
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Struct var len
- Display Name
- Structural variant [Length]
- Consumer Name Alpha Get Info
- Structural variant
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante estructural: |
| es-ES | Spanish (Spain) | Variante estructural: Synonyms: Cuantitativo |
| fr-FR | French (France) | Variant structurel: |
| it-IT | Italian (Italy) | Variante strutturale: Synonyms: Lunghezza Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
81301-4 Structural variant outer start and end
Term Description
The genomic coordinates of the widest genomic range in which the variant might reside.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Variant outer start-end
- Property
- NumRange
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Struct var outer start-end NumRange
- Display Name
- Variant outer start-end [# range]
- Consumer Name Alpha Get Info
- Variant outer start-end
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.68
- Change Reason
- Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante de inicio-fin exterior: |
| es-ES | Spanish (Spain) | Variante estructural externa principio-fin: Synonyms: Cuantitativo |
| fr-FR | French (France) | Variant externe (Début-fin): |
| it-IT | Italian (Italy) | Variante strutturale inizio-fine estremo: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异最宽起止范围: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| {Range} | Example UCUM Units |
81302-2 Structural variant inner start and end
Term Description
The genomic coordinates of the narrowest genomic range in which the variant might reside.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Variant inner start-end
- Property
- NumRange
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Struct var inner start-end NumRange
- Display Name
- Variant inner start-end [# range]
- Consumer Name Alpha Get Info
- Variant inner start-end
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.68
- Change Reason
- Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante de inicio-fin interno: |
| es-ES | Spanish (Spain) | Variante estructural interna principio-fin: Synonyms: Cuantitativo |
| fr-FR | French (France) | Variant interne (Début-fin): |
| it-IT | Italian (Italy) | Variante strutturale inizio-fine interno: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异最窄起止范围: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| {Range} | Example UCUM Units |
81251-1 Complex genetic variant panel
Term Description
This panel is used to report information related to a complex genetic variant and includes a repeating subpanel for reporting specific information for each simple variation that the complex variant includes.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Complex variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Comp var pnl
- Display Name
- Complex variant panel
- Consumer Name Alpha Get Info
- Complex variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de variantes complejas: |
| es-ES | Spanish (Spain) | Panel de variante compleja: |
| fr-FR | French (France) | Variant complexe panel: |
| it-IT | Italian (Italy) | Variante complessa panel: Synonyms: Panel variante complessa Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 复杂变异组套: Synonyms: 分子病理学; |
81260-2 Complex genetic variant [ID]
Term Description
This term is used to report the unique identifier of the complex variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_000106.5(CYP2D6):c.[886C>T;457G>C] - Haplotype has the ClinVar ID 16895. [http://www.ncbi.nlm.nih.gov/clinvar/variation/16895/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Complex variant
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Comp var ID
- Display Name
- Complex variant Nom [ID]
- Consumer Name Alpha Get Info
- Complex variant
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante compleja: |
| es-ES | Spanish (Spain) | Variante compleja: |
| fr-FR | French (France) | Variant complexe: |
| it-IT | Italian (Italy) | Variante complessa: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 复杂变异: Synonyms: 分子病理学; |
81262-8 Complex variant HGVS name
Term Description
This term is used to report the name of the complex variant found in this study in HGVS format. For example, c.[886C>T;457G>C], which represents two separate base substitutions in one gene on one chromosome, or c.[886C>T];[457G>C], which represents two separate base substitutions in one gene on two different chromosomes.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Complex variant HGVS name
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Comp var HGVS name
- Display Name
- Complex variant HGVS name Nom
- Consumer Name Alpha Get Info
- Complex Variant HGVS Name
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre de la variante compleja de HGVS: |
| es-ES | Spanish (Spain) | Nombre de la variante compleja HGVS: |
| fr-FR | French (France) | Variant complexe HGVS nom: |
| it-IT | Italian (Italy) | Variante complessa nome HGVS: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 复杂变异 HGVS 命名: Synonyms: 分子病理学; |
81263-6 Complex variant type
Term Description
The type of complex variant, for example, compound heterozygous or haplotype.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Complex variant type
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Comp var type
- Display Name
- Complex variant type Nom
- Consumer Name Alpha Get Info
- Complex variant type
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Example Answer List LL3999-1
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Compound heterozygous | LA26217-2 | ||
| Double heterozygous | LA26220-6 | ||
| Haplotype | LA26218-0 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de variante compleja: |
| es-ES | Spanish (Spain) | Tipo de variante compleja: |
| fr-FR | French (France) | Variant complexe type: |
| it-IT | Italian (Italy) | Tipo di variante complessa: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 复杂变异类型: Synonyms: 分子病理学; |
81259-4 Associated phenotype
Term Description
The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Associated phenotype
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Prob assoc phenotype
- Display Name
- Associated phenotype
- Consumer Name Alpha Get Info
- Associated phenotype
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.71
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fenotipo asociado: |
| es-ES | Spanish (Spain) | Fenotipo asociado probable: |
| fr-FR | French (France) | Phénotype associé: |
| it-IT | Italian (Italy) | Probabile fenotipo associato: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 关联表型: Synonyms: 关联（相关、 |
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
Optional
Fully-Specified Name
- Component
- Genetic disease sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis seq var interp-Imp
- Display Name
- Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11949
Preferred Answer List LL4034-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pathogenic | LA6668-3 | ||
| Likely pathogenic | LA26332-9 | ||
| Uncertain significance | LA26333-7 | ||
| Likely benign | LA26334-5 | ||
| Benign | LA6675-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la enfermedad genética: |
| 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; |
53034-5 Allelic state
Term Description
The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allelic state
- Display Name
- Allelic state Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Allelic state, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Preferred Answer List LL381-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heteroplasmic | LA6703-8 | ||
| Homoplasmic | LA6704-6 | ||
| Homozygous | LA6705-3 | ||
| Heterozygous | LA6706-1 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado alélico: |
| 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; |
82309-6 Basis for allelic phase [Type]
Part Descriptions
LP220487-5 Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Basis for allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Basis allelic phase
- Display Name
- Basis for allelic phase Nom
- Consumer Name Alpha Get Info
- Basis for allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4050-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Directly measured | LA26426-9 | ||
| Family DNA | LA26427-7 | ||
| Family history | LA26428-5 | ||
| Inferred from population data | LA26429-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Base para la fase alélica: |
| es-ES | Spanish (Spain) | Bases para la fase alélica: |
| fr-FR | French (France) | Bases de la phase allélique: |
| it-IT | Italian (Italy) | Fondamenti di fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | basis voor allelische fase: |
| zh-CN | Chinese (China) | 等位基因相的依据: Synonyms: 分子病理学; |
81250-3 Discrete genetic variant panel
Term Description
This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Simple variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Simple var pnl
- Display Name
- Simple variant panel
- Consumer Name Alpha Get Info
- Simple variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de variante simple: |
| es-ES | Spanish (Spain) | Panel de variante simple: |
| fr-FR | French (France) | Variant simple panel: |
| it-IT | Italian (Italy) | Variante semplice panel: Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 简单变异组套: Synonyms: 分子病理学; |
83005-9 Variant category
Fully-Specified Name
- Component
- Variant category
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Variant category
- Display Name
- Variant category Nom
- Consumer Name Alpha Get Info
- Variant category
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4165-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Simple variant | LA26801-3 | ||
| Structural variant | LA26802-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Categoría de variante: |
| es-ES | Spanish (Spain) | Categoría variante: |
| fr-FR | French (France) | Catégorie de variant: |
| it-IT | Italian (Italy) | Categoria variante: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 变异类别: Synonyms: 分子病理学; |
81252-9 Discrete genetic variant
Term Description
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Simple variant
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Simple var ID
- Display Name
- Simple variant Nom [ID]
- Consumer Name Alpha Get Info
- Simple variant
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante simple: |
| es-ES | Spanish (Spain) | Variante simple: |
| fr-FR | French (France) | Variant simple: |
| it-IT | Italian (Italy) | Variante semplice: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 简单变异: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
51958-7 Transcript reference sequence [ID]
Term Description
This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Transcript reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Transcript ref sequence ID
- Display Name
- Transcript reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Transcript reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14335
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia de la transcripción: |
| 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; |
48004-6 DNA change (c.HGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA change
- Display Name
- DNA change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8938
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cambio del ADN: |
| 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; |
48005-3 Amino acid change (pHGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acid change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change
- Display Name
- Amino acid change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4958
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de aminoácidos: |
| 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; |
48019-4 DNA change type
Term Description
Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA Change Type
- Display Name
- DNA change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.64
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
- Order vs. Observation
- Observation
Preferred Answer List LL4033-8
| 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 | ||
| Copy number gain | LA14033-7 | ||
| Copy number loss | LA14034-5 | ||
| Mobile element insertion | LA26324-6 | ||
| Novel sequence insertion | LA26325-3 | ||
| Tandem duplication | LA26326-1 | ||
| Intrachromosomal breakpoint | LA26327-9 | ||
| Interchromosomal breakpoint | LA26328-7 | ||
| Translocation | LA26331-1 | ||
| Complex | LA26330-3 | ||
| Sequence alteration | LA26329-5 |
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; |
48006-1 Amino acid change [Type]
Term Description
Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Amino acid change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change type
- Display Name
- Amino acid change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL380-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Wild type | LA9658-1 | ||
| Deletion | LA6692-3 | ||
| Duplication | LA6686-5 | ||
| Frameshift | LA6694-9 | ||
| Initiating Methionine | LA6695-6 | ||
| Insertion | LA6687-3 | ||
| Insertion and Deletion | LA9659-9 | ||
| Missense | LA6698-0 | ||
| Nonsense | LA6699-8 | ||
| Silent | LA6700-4 | ||
| Stop Codon Mutation | LA6701-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de cambio de aminoácidos: |
| 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; |
48013-7 Genomic reference sequence [ID]
Term Description
This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genomic reference sequence ID
- Display Name
- Genomic reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genomic reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| 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; |
81290-9 Genomic DNA change (gHGVS)
Term Description
The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic DNA change
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Struct var HGVS name
- Display Name
- Genomic DNA change (g.HGVS) Nom
- Consumer Name Alpha Get Info
- Genomic DNA Change (g.HGVS)
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de ADN genómico: |
| es-ES | Spanish (Spain) | Nombre de la variante estructural HGVS: |
| fr-FR | French (France) | Variation ADN génomique: |
| it-IT | Italian (Italy) | Variante strutturale nome HGVS: Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 基因组 DNA 变化: Synonyms: DNA 改变 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Reference nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Ref nucleotide
- Display Name
- Reference nucleotide Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reference nucleotide, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nucleótido de referencia: |
| 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; |
81254-5 Genomic allele start-end
Term Description
The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Variant exact start-end
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gen allele loc ID
- Display Name
- Genomic allele start-end
- Consumer Name Alpha Get Info
- Variant exact start-end
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.68
- Change Reason
- Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante de inicio-fin exacto: |
| es-ES | Spanish (Spain) | Localización del alelo genómico: |
| fr-FR | French (France) | Variant exact (Début-fin): |
| it-IT | Italian (Italy) | Posizione genomica dell'allele: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异确切起止位置: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Variable nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Alt allele
- Display Name
- Genomic alternate allele Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genomic alternate allele, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Alelo alternativo genómico: |
| 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; |
84414-2 Haplotype name
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Haplotype name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Haplotype name Bld/T
- Display Name
- Haplotype name Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Haplotype name, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre del haplotipo: |
| es-ES | Spanish (Spain) | Nombre Haplotipo: |
| fr-FR | French (France) | Nom haplotype: |
| it-IT | Italian (Italy) | Aplotipo, nome: Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | 单体型名称: Synonyms: 全血或组织; |
81255-2 dbSNP [ID]
Term Description
The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- dbSNP
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- dbSNP ID
- Display Name
- dbSNP Nom [ID]
- Consumer Name Alpha Get Info
- dbSNP
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | dbSNP: |
| es-ES | Spanish (Spain) | dbSNP: |
| fr-FR | French (France) | dbSNP: |
| it-IT | Italian (Italy) | dbSNP: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | dbSNP: Synonyms: 分子病理学; |
81257-8 CIGAR [ID]
Term Description
This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CIGAR
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CIGAR var ID
- Display Name
- CIGAR Nom [ID]
- Consumer Name Alpha Get Info
- CIGAR
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | CIGARRO: |
| es-ES | Spanish (Spain) | CIGAR: |
| fr-FR | French (France) | CIGAR: |
| it-IT | Italian (Italy) | CIGAR: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| pl-PL | Polish (Poland) | CIGAR: Synonyms: CIGAR |
| zh-CN | Chinese (China) | CIGAR: Synonyms: 分子病理学; |
48001-2 Cytogenetic (chromosome) location
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Chromosome region
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Cyto loc ID
- Display Name
- Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Cytogenetic location, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- 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 |
|---|---|
| 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) | Región cromosómica: |
| es-MX | Spanish (Mexico) | Región cromosómica: |
| fr-FR | French (France) | Chromosome région: |
| it-IT | Italian (Italy) | Regione cromosomica: Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | 염색체 부위: |
| nl-NL | Dutch (Netherlands) | chromosoomgebied: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região do cromossomo: Synonyms: Chromosomes; |
| ru-RU | Russian (Russian Federation) | Хромосома участок: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Kromozom bölgesi: |
| zh-CN | Chinese (China) | 染色体区域: Synonyms: 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
- 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; |
81304-8 Variant analysis method [Type]
Term Description
The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Structural variant analysis method
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Struct var analysis method
- Display Name
- Structural variant analysis method Nom
- Consumer Name Alpha Get Info
- Structural variant analysis method
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4048-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Sequencing | LA26398-0 | ||
| Oligo aCGH | LA26399-8 | ||
| SNP array | LA26400-4 | ||
| BAC aCGH | LA26401-2 | ||
| Curated | LA26402-0 | ||
| Digital array | LA26403-8 | ||
| FISH | LA26404-6 | ||
| Gene expression array | LA26405-3 | ||
| Karyotyping | LA26406-1 | ||
| MAPH | LA26407-9 | ||
| MALDI-TOF | LA26408-7 | ||
| Merging | LA26808-8 | ||
| Multiple complete digestion | LA26414-5 | ||
| MLPA | LA26415-2 | ||
| Optical mapping | LA26417-8 | ||
| PCR | LA26418-6 | ||
| qPCR (real-time PCR) | LA26419-4 | ||
| ROMA | LA26420-2 | ||
| Denaturing high-pressure liquid chromatography (DHPLC) | LA26809-6 | ||
| DNA hybridization | LA26810-4 | ||
| Computational analysis | LA26811-2 | ||
| Single-stranded conformational polymorphism (SSCP) | LA26812-0 | ||
| Restriction fragment length polymorphism (RFLP) | LA26813-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Método de análisis de variantes estructurales: |
| es-ES | Spanish (Spain) | Métodos de análisis de la variante estrucutral: |
| fr-FR | French (France) | Variant structurel méthode d'analyse: |
| it-IT | Italian (Italy) | Metodo di analisi della variante strutturale: Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异分析方法: Synonyms: 分子病理学; |
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
Optional
Fully-Specified Name
- Component
- Genetic disease sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis seq var interp-Imp
- Display Name
- Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11949
Preferred Answer List LL4034-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pathogenic | LA6668-3 | ||
| Likely pathogenic | LA26332-9 | ||
| Uncertain significance | LA26333-7 | ||
| Likely benign | LA26334-5 | ||
| Benign | LA6675-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la enfermedad genética: |
| 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; |
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
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genetic var assess
- Display Name
- Genetic variant assessment Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic variant assessment, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13238
Preferred Answer List LL1971-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) | LA9633-4 | ||
| Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) | LA9634-2 | ||
| No call | LA18198-4 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
| 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
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.
81259-4 Associated phenotype
Term Description
The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Associated phenotype
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Prob assoc phenotype
- Display Name
- Associated phenotype
- Consumer Name Alpha Get Info
- Associated phenotype
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.71
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fenotipo asociado: |
| es-ES | Spanish (Spain) | Fenotipo asociado probable: |
| fr-FR | French (France) | Phénotype associé: |
| it-IT | Italian (Italy) | Probabile fenotipo associato: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 关联表型: Synonyms: 关联（相关、 |
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
Conditional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allelic state
- Display Name
- Allelic state Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Allelic state, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Preferred Answer List LL381-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heteroplasmic | LA6703-8 | ||
| Homoplasmic | LA6704-6 | ||
| Homozygous | LA6705-3 | ||
| Heterozygous | LA6706-1 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado alélico: |
| 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; |
81258-6 Sample variant allelic frequency [NFr]
Term Description
The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Sample variant allelic frequency
- Property
- NFr
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Sample VAF
- Display Name
- Sample variant allelic frequency
- Consumer Name Alpha Get Info
- Sample variant allelic frequency
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.73
- Change Reason
- Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8648
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Frecuencia alélica variante de muestra: |
| es-ES | Spanish (Spain) | Frecuencia alélica variante de muestra: Synonyms: Cuantitativo |
| fr-FR | French (France) | Example de fréquence de variant allélique: |
| it-IT | Italian (Italy) | Frequenza allelica della variante campione: Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 样品等位基因频率: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
82121-5 Allelic read depth
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic read depth
- Property
- Num
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Allelic read depth
- Display Name
- Allelic read depth [#]
- Consumer Name Alpha Get Info
- Allelic read depth
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Profundidad de lectura alélica: |
| es-ES | Spanish (Spain) | Profundidad de lectura alélica: Synonyms: Cuantitativo |
| fr-FR | French (France) | Profondeur allélique: |
| it-IT | Italian (Italy) | profondità di lettura allelica: Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因读取深度: Synonyms: 个数; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
82120-7 Allelic phase
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Allelic phase
- Display Name
- Allelic phase Nom
- Consumer Name Alpha Get Info
- Allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4025-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 1st set of variants in cis relation to each other | LA26814-6 | ||
| 2nd set of variants in cis relation to each other | LA26815-3 | ||
| 3rd set of variants in cis relation to each other | LA26816-1 | ||
| 4th set of variants in cis relation to each other | LA26817-9 | ||
| 5th set of variants in cis relation to each other | LA26818-7 | ||
| Maternal | LA26320-4 | ||
| Paternal | LA26321-2 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 | ||
| Other, Please specify: | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fase alélica: |
| es-ES | Spanish (Spain) | Fase alélica: |
| fr-FR | French (France) | Phase allélique: |
| it-IT | Italian (Italy) | Fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因类型: Synonyms: 分子病理学; |
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.
82309-6 Basis for allelic phase [Type]
Part Descriptions
LP220487-5 Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Basis for allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Basis allelic phase
- Display Name
- Basis for allelic phase Nom
- Consumer Name Alpha Get Info
- Basis for allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4050-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Directly measured | LA26426-9 | ||
| Family DNA | LA26427-7 | ||
| Family history | LA26428-5 | ||
| Inferred from population data | LA26429-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Base para la fase alélica: |
| es-ES | Spanish (Spain) | Bases para la fase alélica: |
| fr-FR | French (France) | Bases de la phase allélique: |
| it-IT | Italian (Italy) | Fondamenti di fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | basis voor allelische fase: |
| zh-CN | Chinese (China) | 等位基因相的依据: Synonyms: 分子病理学; |
82118-1 Pharmacogenomics result panel
Fully-Specified Name
- Component
- Pharmacogenomics result panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Pharmg result pnl
- Display Name
- Pharmacogenomics result panel
- Consumer Name Alpha Get Info
- Pharmacogenomics result panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.73
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 7029
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de resultados de farmacogenómica: |
| es-ES | Spanish (Spain) | Panel de resultados farmacogenómicos: |
| fr-FR | French (France) | Phamacogénomiques résultats panel: |
| it-IT | Italian (Italy) | Risultati farmacogenomici, panel: Synonyms: Panel risultati farmacogenomici Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| nl-NL | Dutch (Netherlands) | farmacogenomisch resultaat panel: |
| zh-CN | Chinese (China) | 药物基因组学结果组套: Synonyms: 分子病理学; |
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
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
84413-4 Genotype display name
Fully-Specified Name
- Component
- Genotype display name
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genotype name Patient
- Display Name
- Genotype display name Nom
- Consumer Name Alpha Get Info
- Genotype display name
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.72
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre para mostrar del genotipo: |
| es-ES | Spanish (Spain) | Nombrepara mostrar el genotipo: |
| fr-FR | French (France) | Génotype nom: |
| it-IT | Italian (Italy) | Gentotipo, nome di visualizzazione: Synonyms: Nome di visualizzazione del genotipo Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 基因型显示名称: Synonyms: 分子病理学; |
53040-2 Genetic variation's effect on drug metabolism
Term Description
Predicted phenotype for drug efficacy. A single marker interpretation value known to allow (responsive) or prevent (resistant) the drug to perform.
Prior to the LOINC release 2.56 (June 2016), the answer list was updated per the recommendations of the Clinical Pharmacogenetics Implementation Consortium (CPIC). The previous answer list number was LL609-9, and three of the answer strings and LA codes are the same in the new list (ultrarapid metabolizer, intermediate metabolizer, and poor metabolizer). In the new answer list, the extensive metabolizer answer (LA10316-0) from LL609-9 has been replaced with two new answers (rapid metabolizer, normal metabolizer). LA10316-0 is still a valid LA code for the "extensive metabolizer" answer string.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Drug metabolism sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- Drug metab seq var interp-Imp
- Display Name
- Drug metabolism sequence variation interpretation Molgen Ql (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Drug metabolism sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated Long Common Name based on the HL7 Clinical Genomics Implementation guide; Corrected Scale from "Nom" to "Ord" since results are ordinal.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11135
Preferred Answer List LL3856-3
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Ultrarapid metabolizer | LA10315-2 | ||
| Rapid metabolizer | LA25390-8 | ||
| Normal metabolizer | LA25391-6 | ||
| Intermediate metabolizer | LA10317-8 | ||
| Poor metabolizer | LA9657-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia del metabolismo de los fármacos: |
| 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
- 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; |
83009-1 Genetic variation's effect on high-risk allele
Fully-Specified Name
- Component
- Genetic variation effect on high-risk allele
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Ord
- Method
Additional Names
- Short Name
- Genetic var eff high-risk allele
- Display Name
- Genetic variation effect on high-risk allele Ql [Interp]
- Consumer Name Alpha Get Info
- Genetic variation effect on high-risk allele
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11172
Example Answer List LL2353-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Low risk | LA19542-2 | ||
| High risk | LA19541-4 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Efecto de la variación genética sobre el alelo de alto riesgo: |
| es-ES | Spanish (Spain) | Efecto de la variación genética en alelo de alto riesgo: |
| fr-FR | French (France) | Effet du polymorphisme génétique sur l'allèle à haut risque: |
| it-IT | Italian (Italy) | Variante genetica, effetto sull'allele ad alto rischio: Synonyms: Effetto della variante genetica sull''allele ad al Farmacogenomica Impressione/interpretazione di studio Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 遗传性变异对高风险等位基因的影响: Synonyms: 依次型; |
82117-3 Medication usage implications panel
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Medication usage implications panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Med usage impl pnl
- Display Name
- Medication usage implications panel
- Consumer Name Alpha Get Info
- Medication usage implications panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.63
- Order vs. Observation
- Subset
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de implicaciones del uso de medicamentos: |
| es-ES | Spanish (Spain) | Panel de implicaciones del uso de medicamnetos: |
| fr-FR | French (France) | Conseil d'utilisation du médicament panel: |
| it-IT | Italian (Italy) | Implicazioni dell'uso di medicazioni, panel: Synonyms: Panel Implicazioni dell''uso di medicazioni Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 药物使用可能影响组套: Synonyms: 分子病理学; |
51963-7 Medication assessed [ID]
Term Description
A coded medication assessed in a pharmacogenic test (recommend RxNorm)
Source: Regenstrief LOINC
Observation Required in Panel
Required
Fully-Specified Name
- Component
- Medication assessed
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Medication assessed
- Display Name
- Medication assessed Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Medication assessed, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 51962-9 | Pharmacogenetic DNA analysis panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Medicación evaluada: |
| 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; |
82116-5 Medication usage suggestion [Type]
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Medication usage suggestion
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Med usage sugg
- Display Name
- Medication usage suggestion Nom
- Consumer Name Alpha Get Info
- Medication usage suggestion
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.56
- Order vs. Observation
- Observation
Example Answer List LL4049-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Consider alternative medication | LA26421-0 | ||
| Decrease dose | LA26422-8 | ||
| Increase dose | LA26423-6 | ||
| Use caution | LA26424-4 | ||
| Normal response expected | LA26425-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Sugerencia de uso de medicamentos: |
| es-ES | Spanish (Spain) | Sugerencia de uso de medicamentos: |
| fr-FR | French (France) | Conseil d'utilisation du médicament: |
| it-IT | Italian (Italy) | Suggerimento sull'uso di medicazioni: Synonyms: Farmacogenomica Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 药物使用建议: Synonyms: 分子病理学; |
83010-9 Medication usage suggestion [Narrative]
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Medication usage suggestion
- Property
- Imp
- Time
- Pt
- System
- ^Patient
- Scale
- Nar
- Method
Additional Names
- Short Name
- Med usage sugg Patient-Imp
- Display Name
- Medication usage suggestion Nar [Interp]
- Consumer Name Alpha Get Info
- Interpretation of Medication usage suggestion test result
Basic Attributes
- Class
- MOLPATH.PHARMG
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.71
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Sugerencia de uso de medicamentos: |
| es-ES | Spanish (Spain) | Sugerencia de uso de medicamentos: |
| fr-FR | French (France) | Conseil d'utilisation du médicament: |
| it-IT | Italian (Italy) | Suggerimento sull'uso di medicazioni: Synonyms: Farmacogenomica Impressione/interpretazione di studio Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 药物使用建议: Synonyms: 分子病理学; |
83011-7 Haplotype definition panel
Fully-Specified Name
- Component
- Haplotype definition panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Haplotype definition Pnl
- Display Name
- Haplotype definition panel
- Consumer Name Alpha Get Info
- Haplotype definition panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de definición de haplotipos: |
| es-ES | Spanish (Spain) | Panel de haplotipos: |
| fr-FR | French (France) | Haplotype définition panel: |
| it-IT | Italian (Italy) | Definizione dell'aplotipo, panel: Synonyms: Panel di definizione dell''aplotipo Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 单体型定义组套: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
84414-2 Haplotype name
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Haplotype name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Haplotype name Bld/T
- Display Name
- Haplotype name Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Haplotype name, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre del haplotipo: |
| es-ES | Spanish (Spain) | Nombre Haplotipo: |
| fr-FR | French (France) | Nom haplotype: |
| it-IT | Italian (Italy) | Aplotipo, nome: Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | 单体型名称: Synonyms: 全血或组织; |
81250-3 Discrete genetic variant panel
Term Description
This panel is used to report the information associated with a simple genetic variant, such as a single nucleotide change. It should not be used to report information related to structural variants.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Simple variant panel
- Property
- -
- Time
- Pt
- System
- ^Patient
- Scale
- -
- Method
Additional Names
- Short Name
- Simple var pnl
- Display Name
- Simple variant panel
- Consumer Name Alpha Get Info
- Simple variant panel
Basic Attributes
- Class
- PANEL.MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Order
- Panel Type
- Panel
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Panel de variante simple: |
| es-ES | Spanish (Spain) | Panel de variante simple: |
| fr-FR | French (France) | Variant simple panel: |
| it-IT | Italian (Italy) | Variante semplice panel: Synonyms: Panel variante semplice Patologia molecolare paziente Punto nel tempo (episodio) Set di prescrizione patologia molecolare |
| zh-CN | Chinese (China) | 简单变异组套: Synonyms: 分子病理学; |
83005-9 Variant category
Fully-Specified Name
- Component
- Variant category
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Variant category
- Display Name
- Variant category Nom
- Consumer Name Alpha Get Info
- Variant category
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4165-8
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Simple variant | LA26801-3 | ||
| Structural variant | LA26802-1 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Categoría de variante: |
| es-ES | Spanish (Spain) | Categoría variante: |
| fr-FR | French (France) | Catégorie de variant: |
| it-IT | Italian (Italy) | Categoria variante: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 变异类别: Synonyms: 分子病理学; |
81252-9 Discrete genetic variant
Term Description
This term is used to report the unique identifier of the simple variant found in this study. The identifier may come from various sources, including NCBI's ClinVar and Ensembl. For example, the variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) has the ClinVar ID 30880 and would be reported in OBX-5 as 30880^NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys)^ClinVar. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Simple variant
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Simple var ID
- Display Name
- Simple variant Nom [ID]
- Consumer Name Alpha Get Info
- Simple variant
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante simple: |
| es-ES | Spanish (Spain) | Variante simple: |
| fr-FR | French (France) | Variant simple: |
| it-IT | Italian (Italy) | Variante semplice: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 简单变异: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Gene identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gene studied ID
- Display Name
- Gene studied Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Gene studied, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 9796
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 102118-7 | Rhabdomyolysis and Metabolic myopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
| 102119-5 | Skeletal muscle channelopathy multigene panel - Blood or Tissue by Molecular genetics method |
| 74028-2 | Virtual Medical Record for Clinical Decision Support panel HL7.VMR-CDS |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de gen estudiado: |
| 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; |
51958-7 Transcript reference sequence [ID]
Term Description
This field carries the ID for the transcribed reference sequence, which is the part of the genomic reference sequence that is converted to messenger RNA (i.e., after the introns are removed). The transcript reference sequence ID may be reporting using various coding systems including NCBI's RefSeq ("NM_..."), Ensembl ("ENST..."), and LRG ("LRG..." plus "t1" to indicate transcript).
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Transcript reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Transcript ref sequence ID
- Display Name
- Transcript reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Transcript reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 14335
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia de la transcripción: |
| 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; |
48004-6 DNA change (c.HGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for a single DNA marker. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- DNA change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA change
- Display Name
- DNA change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation" to conform with the balloted HL7 v2 IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8938
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Cambio del ADN: |
| 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; |
48005-3 Amino acid change (pHGVS)
Term Description
Human Genome Variation Society (HGVS) nomenclature for an amino acid sequence. This value is derivable from the DNA Marker value if available. It is provided for convenience. The use of the nomenclature must be extended to describe non-variations (aka. wild types) see samples for wild type examples.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Amino acid change
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change
- Display Name
- Amino acid change Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4958
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de aminoácidos: |
| 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; |
48019-4 DNA change type
Term Description
Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- DNA change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- DNA Change Type
- Display Name
- DNA change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- DNA change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.64
- Change Reason
- Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
- Order vs. Observation
- Observation
Preferred Answer List LL4033-8
| 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 | ||
| Copy number gain | LA14033-7 | ||
| Copy number loss | LA14034-5 | ||
| Mobile element insertion | LA26324-6 | ||
| Novel sequence insertion | LA26325-3 | ||
| Tandem duplication | LA26326-1 | ||
| Intrachromosomal breakpoint | LA26327-9 | ||
| Interchromosomal breakpoint | LA26328-7 | ||
| Translocation | LA26331-1 | ||
| Complex | LA26330-3 | ||
| Sequence alteration | LA26329-5 |
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; |
48006-1 Amino acid change [Type]
Term Description
Codified type for associated Amino Acid Marker. Amino Acid Marker's use the HGVS notation which implies the Amino Acid Marker Type, but the concurrent use of this code will allow a standard and explicit type for technical and display convenience.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Amino acid change type
- Property
- Type
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Amino acid change type
- Display Name
- Amino acid change type Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Amino acid change type, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Preferred Answer List LL380-7
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Wild type | LA9658-1 | ||
| Deletion | LA6692-3 | ||
| Duplication | LA6686-5 | ||
| Frameshift | LA6694-9 | ||
| Initiating Methionine | LA6695-6 | ||
| Insertion | LA6687-3 | ||
| Insertion and Deletion | LA9659-9 | ||
| Missense | LA6698-0 | ||
| Nonsense | LA6699-8 | ||
| Silent | LA6700-4 | ||
| Stop Codon Mutation | LA6701-2 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 48014-5 | Sequence variation panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Tipo de cambio de aminoácidos: |
| 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; |
48013-7 Genomic reference sequence [ID]
Term Description
This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008).
The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic reference sequence identifier
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Genomic reference sequence ID
- Display Name
- Genomic reference sequence Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Genomic reference sequence, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.21
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 77313-5 | DNA analysis discrete sequence variation basic associated observations panel - Blood or Tissue by Molecular genetics method |
| 53042-8 | DNA marker assessed panel |
| 53044-4 | DNA marker identified panel |
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 48015-2 | Individual allele panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
| 78046-0 | Pharmacogenomic analysis basic associated observations panel - Blood or Tissue |
| 48017-8 | Sequencing methodology panel - Blood or Tissue by Molecular genetics method |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Identificador de secuencia de referencia genómica: |
| 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; |
81290-9 Genomic DNA change (gHGVS)
Term Description
The name of a structural variant reported using HGVS nomenclature.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Genomic DNA change
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Struct var HGVS name
- Display Name
- Genomic DNA change (g.HGVS) Nom
- Consumer Name Alpha Get Info
- Genomic DNA Change (g.HGVS)
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Cambio de ADN genómico: |
| es-ES | Spanish (Spain) | Nombre de la variante estructural HGVS: |
| fr-FR | French (France) | Variation ADN génomique: |
| it-IT | Italian (Italy) | Variante strutturale nome HGVS: Synonyms: Cambio di DNA Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 基因组 DNA 变化: Synonyms: DNA 改变 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Reference nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Ref nucleotide
- Display Name
- Reference nucleotide Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Reference nucleotide, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nucleótido de referencia: |
| 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; |
81254-5 Genomic allele start-end
Term Description
The variant start-end location is the first genomic position in the reference allele that contains a change from the reference allele. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the variant exact start-end location is Chr3: 128906220 on Assembly GRCh38. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Fully-Specified Name
- Component
- Variant exact start-end
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Gen allele loc ID
- Display Name
- Genomic allele start-end
- Consumer Name Alpha Get Info
- Variant exact start-end
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.68
- Change Reason
- Release 2.68: COMPONENT: Updated to make the reporting of variant location more generalizable (per the HL7 Clinical Genomics Working Group).
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Variante de inicio-fin exacto: |
| es-ES | Spanish (Spain) | Localización del alelo genómico: |
| fr-FR | French (France) | Variant exact (Début-fin): |
| it-IT | Italian (Italy) | Posizione genomica dell'allele: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异确切起止位置: Synonyms: 分子病理学; |
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
Conditional
Fully-Specified Name
- Component
- Variable nucleotide
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Alt allele
- Display Name
- Genomic alternate allele Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genomic alternate allele, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.58
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Alelo alternativo genómico: |
| 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; |
84414-2 Haplotype name
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Haplotype name
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
Additional Names
- Short Name
- Haplotype name Bld/T
- Display Name
- Haplotype name Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Haplotype name, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Nombre del haplotipo: |
| es-ES | Spanish (Spain) | Nombre Haplotipo: |
| fr-FR | French (France) | Nom haplotype: |
| it-IT | Italian (Italy) | Aplotipo, nome: Synonyms: Identificatore Nome dell''aplotipo Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| zh-CN | Chinese (China) | 单体型名称: Synonyms: 全血或组织; |
81255-2 dbSNP [ID]
Term Description
The unique identifier for the variant represented as a small nucleotide polymorphism (SNP). The dbSNP ID is used routinely as the base identifier in pharmacogenomics as well as arrCGH studies. For example, for the simple variant NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys), the dbSNP ID is 368949613. [http://www.ncbi.nlm.nih.gov/clinvar/variation/30880/]
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- dbSNP
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- dbSNP ID
- Display Name
- dbSNP Nom [ID]
- Consumer Name Alpha Get Info
- dbSNP
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | dbSNP: |
| es-ES | Spanish (Spain) | dbSNP: |
| fr-FR | French (France) | dbSNP: |
| it-IT | Italian (Italy) | dbSNP: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | dbSNP: Synonyms: 分子病理学; |
81257-8 CIGAR [ID]
Term Description
This term is used to report the unique ID from CIGAR, a syntax for describing variation that is use most frequently during alignment in sequencing studies.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- CIGAR
- Property
- ID
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- CIGAR var ID
- Display Name
- CIGAR Nom [ID]
- Consumer Name Alpha Get Info
- CIGAR
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | CIGARRO: |
| es-ES | Spanish (Spain) | CIGAR: |
| fr-FR | French (France) | CIGAR: |
| it-IT | Italian (Italy) | CIGAR: Synonyms: Identificatore Patologia molecolare paziente Punto nel tempo (episodio) |
| pl-PL | Polish (Poland) | CIGAR: Synonyms: CIGAR |
| zh-CN | Chinese (China) | CIGAR: Synonyms: 分子病理学; |
48001-2 Cytogenetic (chromosome) location
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Chromosome region
- Property
- ID
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Cyto loc ID
- Display Name
- Cytogenetic location Molgen Nom (Bld/Tiss) [ID]
- Consumer Name Alpha Get Info
- Cytogenetic location, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MISC
- Type
- Laboratory
- First Released
- Version 2.21
- 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 |
|---|---|
| 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) | Región cromosómica: |
| es-MX | Spanish (Mexico) | Región cromosómica: |
| fr-FR | French (France) | Chromosome région: |
| it-IT | Italian (Italy) | Regione cromosomica: Synonyms: Genetica molecolare Identificatore Miscellanea Miscellanea geni Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | 염색체 부위: |
| nl-NL | Dutch (Netherlands) | chromosoomgebied: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Região do cromossomo: Synonyms: Chromosomes; |
| ru-RU | Russian (Russian Federation) | Хромосома участок: Synonyms: Идентификатор Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Kromozom bölgesi: |
| zh-CN | Chinese (China) | 染色体区域: Synonyms: 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
- 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; |
81304-8 Variant analysis method [Type]
Term Description
The method used for analyzing chromosome structural variation, such as FISH, arrCGH, sequencing, and MLPA.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Structural variant analysis method
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Struct var analysis method
- Display Name
- Structural variant analysis method Nom
- Consumer Name Alpha Get Info
- Structural variant analysis method
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4048-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Sequencing | LA26398-0 | ||
| Oligo aCGH | LA26399-8 | ||
| SNP array | LA26400-4 | ||
| BAC aCGH | LA26401-2 | ||
| Curated | LA26402-0 | ||
| Digital array | LA26403-8 | ||
| FISH | LA26404-6 | ||
| Gene expression array | LA26405-3 | ||
| Karyotyping | LA26406-1 | ||
| MAPH | LA26407-9 | ||
| MALDI-TOF | LA26408-7 | ||
| Merging | LA26808-8 | ||
| Multiple complete digestion | LA26414-5 | ||
| MLPA | LA26415-2 | ||
| Optical mapping | LA26417-8 | ||
| PCR | LA26418-6 | ||
| qPCR (real-time PCR) | LA26419-4 | ||
| ROMA | LA26420-2 | ||
| Denaturing high-pressure liquid chromatography (DHPLC) | LA26809-6 | ||
| DNA hybridization | LA26810-4 | ||
| Computational analysis | LA26811-2 | ||
| Single-stranded conformational polymorphism (SSCP) | LA26812-0 | ||
| Restriction fragment length polymorphism (RFLP) | LA26813-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Método de análisis de variantes estructurales: |
| es-ES | Spanish (Spain) | Métodos de análisis de la variante estrucutral: |
| fr-FR | French (France) | Variant structurel méthode d'analyse: |
| it-IT | Italian (Italy) | Metodo di analisi della variante strutturale: Synonyms: Metodo di analisi Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 结构变异分析方法: Synonyms: 分子病理学; |
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
Optional
Fully-Specified Name
- Component
- Genetic disease sequence variation interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis seq var interp-Imp
- Display Name
- Genetic disease sequence variation interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease sequence variation interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Change Reason
- Updated LCN per CJM for HL7 CG IG
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 11949
Preferred Answer List LL4034-6
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Pathogenic | LA6668-3 | ||
| Likely pathogenic | LA26332-9 | ||
| Uncertain significance | LA26333-7 | ||
| Likely benign | LA26334-5 | ||
| Benign | LA6675-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 51975-1 | Individual allele results panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación de la variación de la secuencia de la enfermedad genética: |
| 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; |
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
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genetic var assess
- Display Name
- Genetic variant assessment Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic variant assessment, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.38
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 13238
Preferred Answer List LL1971-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Present Copyright http://snomed.info/sct ID:52101004 Present (qualifier value) | LA9633-4 | ||
| Absent Copyright http://snomed.info/sct ID:2667000 Absent (qualifier value) | LA9634-2 | ||
| No call | LA18198-4 | ||
| Indeterminate Copyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
| 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
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.
81259-4 Associated phenotype
Term Description
The possible phenotype associated with the genetic variant found in this study.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Associated phenotype
- Property
- Find
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Prob assoc phenotype
- Display Name
- Associated phenotype
- Consumer Name Alpha Get Info
- Associated phenotype
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.71
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fenotipo asociado: |
| es-ES | Spanish (Spain) | Fenotipo asociado probable: |
| fr-FR | French (France) | Phénotype associé: |
| it-IT | Italian (Italy) | Probabile fenotipo associato: Synonyms: Osservazione Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 关联表型: Synonyms: 关联（相关、 |
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
Conditional
Fully-Specified Name
- Component
- Allelic state
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Allelic state
- Display Name
- Allelic state Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Allelic state, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.68
- Order vs. Observation
- Observation
Preferred Answer List LL381-5
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Heteroplasmic | LA6703-8 | ||
| Homoplasmic | LA6704-6 | ||
| Homozygous | LA6705-3 | ||
| Heterozygous | LA6706-1 | ||
| Hemizygous | LA6707-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 51960-3 | DNA marker results panel |
| 55233-1 | Genetic analysis master panel |
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Estado alélico: |
| 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; |
81258-6 Sample variant allelic frequency [NFr]
Term Description
The fraction of all reads in a study sample at a given genomic locus that identify the allele (variant) in question. For homozygotes it will be close to 1.0; for heterozygotes it will be close to 0.5. It can be less than 0.5 in the case of mosaics or multiple chromosome, or mixtures of tumor cells and normal cells. This measure is an attribute of the variant and applies when the method is a Next Generation Sequencing (NGS) or similar. Such methods provide many reads from the sample for each locus. To report population allelic frequency, see [LOINC: 92821-8].
Allelic frequency is usually reported as a decimal fraction for both Sample Variant Allelic Frequency and Population Allelic Frequency, although it is occasionally reported as a percent. Special care/caution should be taken when reporting and converting to a decimal fraction.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Sample variant allelic frequency
- Property
- NFr
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Sample VAF
- Display Name
- Sample variant allelic frequency
- Consumer Name Alpha Get Info
- Sample variant allelic frequency
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.73
- Change Reason
- Updated Component from "Allelic frequency" to clarify that this term represents the allelic frequency within a study sample, and corrected Term description to describe sample-level allelic frequency rather than population allelic frequency.
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 8648
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Frecuencia alélica variante de muestra: |
| es-ES | Spanish (Spain) | Frecuencia alélica variante de muestra: Synonyms: Cuantitativo |
| fr-FR | French (France) | Example de fréquence de variant allélique: |
| it-IT | Italian (Italy) | Frequenza allelica della variante campione: Synonyms: Frazione numerica Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 样品等位基因频率: Synonyms: 分子病理学; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
82121-5 Allelic read depth
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic read depth
- Property
- Num
- Time
- Pt
- System
- ^Patient
- Scale
- Qn
- Method
Additional Names
- Short Name
- Allelic read depth
- Display Name
- Allelic read depth [#]
- Consumer Name Alpha Get Info
- Allelic read depth
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Profundidad de lectura alélica: |
| es-ES | Spanish (Spain) | Profundidad de lectura alélica: Synonyms: Cuantitativo |
| fr-FR | French (France) | Profondeur allélique: |
| it-IT | Italian (Italy) | profondità di lettura allelica: Synonyms: genomico, SNPs, polimorfismi Numero (conta) Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因读取深度: Synonyms: 个数; |
Example Units
| Unit | Source |
|---|---|
| {#} | Example UCUM Units |
82120-7 Allelic phase
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
Additional Names
- Short Name
- Allelic phase
- Display Name
- Allelic phase Nom
- Consumer Name Alpha Get Info
- Allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.56
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4025-4
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| 1st set of variants in cis relation to each other | LA26814-6 | ||
| 2nd set of variants in cis relation to each other | LA26815-3 | ||
| 3rd set of variants in cis relation to each other | LA26816-1 | ||
| 4th set of variants in cis relation to each other | LA26817-9 | ||
| 5th set of variants in cis relation to each other | LA26818-7 | ||
| Maternal | LA26320-4 | ||
| Paternal | LA26321-2 | ||
| Unknown Copyright http://snomed.info/sct ID:261665006 Unknown (qualifier value) | LA4489-6 | ||
| Other, Please specify: | LA46-8 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Fase alélica: |
| es-ES | Spanish (Spain) | Fase alélica: |
| fr-FR | French (France) | Phase allélique: |
| it-IT | Italian (Italy) | Fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| zh-CN | Chinese (China) | 等位基因类型: Synonyms: 分子病理学; |
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.
82309-6 Basis for allelic phase [Type]
Part Descriptions
LP220487-5 Basis for allelic phase
The evidential basis on which the allelic phase and/or the allelic state was concluded.
Choices include:
1) Directly measured;
2) Family DNA;
3) Family history;
4) Inferred from population data
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Fully-Specified Name
- Component
- Basis for allelic phase
- Property
- Type
- Time
- Pt
- System
- ^Patient
- Scale
- Nom
- Method
- *
Additional Names
- Short Name
- Basis allelic phase
- Display Name
- Basis for allelic phase Nom
- Consumer Name Alpha Get Info
- Basis for allelic phase
Basic Attributes
- Class
- MOLPATH
- Type
- Laboratory
- First Released
- Version 2.58
- Last Updated
- Version 2.58
- Order vs. Observation
- Observation
Example Answer List LL4050-2
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Directly measured | LA26426-9 | ||
| Family DNA | LA26427-7 | ||
| Family history | LA26428-5 | ||
| Inferred from population data | LA26429-3 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 81247-9 | Master HL7 genetic variant reporting panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Base para la fase alélica: |
| es-ES | Spanish (Spain) | Bases para la fase alélica: |
| fr-FR | French (France) | Bases de la phase allélique: |
| it-IT | Italian (Italy) | Fondamenti di fase allelica: Synonyms: Patologia molecolare paziente Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | basis voor allelische fase: |
| zh-CN | Chinese (China) | 等位基因相的依据: Synonyms: 分子病理学; |