51966-0
Genetic disease DNA analysis panel
Active
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
Type of Entry
Question expects user entry - requires response [Q]
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; |
48002-0 Genomic source class [Type]
Term Description
The genomic class of the specimen being analyzed: Germline for inherited genome, somatic for cancer genome, and prenatal for fetal genome.
Source: Regenstrief LOINC
Observation Required in Panel
Required
Type of Entry
Question expects user entry - requires response [Q]
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; |
51968-6 Discrete variation analysis overall interpretation
Term Description
Interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall. This is used for Symptomatic or Asymptomatic testing other than Carrier testing.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
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-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| es-MX | Spanish (Mexico) | Interpretación general del análisis de enfermedades genéticas: |
| fr-FR | French (France) | Maladie génétique interprétation globale: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione generale analisi: Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione generale di analisi di malattia ge Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Doenças genéticas análise total interpretação: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетические заболевания анализ общая интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık analizi tüm yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病分析总体解释: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
53039-4 Genetic disease analysis overall carrier interpretation
Term Description
Carrier Identification interpretation of all identified DNA Markers and/or Individual Alleles along with any known clinical information for the benefit of aiding clinicians in understanding the results overall.
Source: Regenstrief LOINC
Observation Required in Panel
Conditional
Type of Entry
Question expects user entry - requires response [Q]
Fully-Specified Name
- Component
- Genetic disease analysis overall carrier interpretation
- Property
- Imp
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Gene dis anl carrier interp-Imp
- Display Name
- Genetic disease analysis overall carrier interpretation Molgen (Bld/Tiss) [Interp]
- Consumer Name Alpha Get Info
- Genetic disease analysis overall carrier interpretation, Blood or tissue specimen
Basic Attributes
- Class
- HL7.GENETICS
- Type
- Laboratory
- First Released
- Version 2.24
- Last Updated
- Version 2.73
- Order vs. Observation
- Observation
- Common Test Rank Get Info
- 4608
Preferred Answer List LL604-0
| Answer | Code | Score | Answer ID |
|---|---|---|---|
| Carrier | LA10314-5 | ||
| Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) | LA6577-6 | ||
| Inconclusive Copyright http://snomed.info/sct ID:419984006 Inconclusive (qualifier value) | LA9663-1 | ||
| Failure | LA9664-9 |
Member of these Panels
| LOINC | Long Common Name |
|---|---|
| 55233-1 | Genetic analysis master panel |
| 51966-0 | Genetic disease DNA analysis panel |
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-MX | Spanish (Mexico) | Interpretación general del portador del análisis de enfermedades genéticas: |
| es-ES | Spanish (Spain) | Interpretación general del análisis en la enfermedad genética: |
| fr-FR | French (France) | Maladie génétique transmise interprétation globale: |
| it-IT | Italian (Italy) | Malattia genetica, interpretazione analisi portatore generale: Synonyms: Genetica molecolare Impressione/interpretazione di studio Interpretazione di analisi di malattia genetica su Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
| pt-BR | Portuguese (Brazil) | Análise genética da doença interpretação transportadora global: Synonyms: Interp; |
| ru-RU | Russian (Russian Federation) | Генетическое заболевание анализ общий носитель интерпретация: Synonyms: Впечатление/интерпретация исследования Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | Genetik hastalık analizi tüm taşıyıcı yorumu: |
| zh-CN | Chinese (China) | 遗传性疾病分析总体携带者解释: Synonyms: HL7 遗传学 全血或组织; |
Third Party Copyright
This material includes SNOMED Clinical Terms® (SNOMED CT®) which is used by permission of the International Health Terminology Standards Development Organisation (IHTSDO) under license. All rights reserved. SNOMED CT® was originally created by The College of American Pathologists. "SNOMED" and "SNOMED CT" are registered trademarks of the IHTSDO.
This material includes content from the US Edition to SNOMED CT, which is developed and maintained by the U.S. National Library of Medicine and is available to authorized UMLS Metathesaurus Licensees from the UTS Downloads site at https://uts.nlm.nih.gov.
Use of SNOMED CT content is subject to the terms and conditions set forth in the SNOMED CT Affiliate License Agreement. It is the responsibility of those implementing this product to ensure they are appropriately licensed and for more information on the license, including how to register as an Affiliate Licensee, please refer to http://www.snomed.org/snomed-ct/get-snomed-ct or info@snomed.org<mailto:info@snomed.org>. This may incur a fee in SNOMED International non-Member countries.
51969-4 Genetic analysis report
Term Description
Narative report in disease diagnostic-based format.
Source: Regenstrief LOINC
Observation Required in Panel
Optional
Type of Entry
Question expects user entry - requires response [Q]
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-ES | Spanish (Spain) | Informe de enfemedades genéticas: |
| es-MX | Spanish (Mexico) | Informe resumido del análisis genético: |
| fr-FR | French (France) | Compte rendu de génétique: |
| it-IT | Italian (Italy) | Analisi genetica, referto generale: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto Referto clinico di test genetico Referto generale di analisi genetica Sangue Sangue o Tessuto Tessuto & |
| nl-NL | Dutch (Netherlands) | genetische analyse beknopt report: Synonyms: molgen |
| pt-BR | Portuguese (Brazil) | Relatório sumário de análise genética: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | Генетический анализ краткие сведения отчёт: Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | Genetik analizi summary report: |
| zh-CN | Chinese (China) | 遗传分析摘要报告: Synonyms: HL7 遗传学 临床文档型; |