69548-6
Genetic variant assessment
Active
Term Description
Where testing scenarios are intended to assess the prescence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- Genetic variant assessment
- Property
- Find
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- Genetic var assess
- Display Name
- Genetic variant assessment Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- Genetic variant assessment, Blood or tissue specimen
Preferred Answer List: LL1971-2
Source: HL7Answer | Code | Score | Answer ID |
---|---|---|---|
PresentCopyright http://snomed.info/sct ID:52101004 Present (qualifier value) | LA9633-4 | ||
AbsentCopyright http://snomed.info/sct ID:2667000 Absent (qualifier value) | LA9634-2 | ||
No call | LA18198-4 | ||
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) | LA11884-6 |
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
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-ES | Spanish (Spain) | Valoración de la variabilidad genética: |
es-MX | Spanish (Mexico) | Evaluación de variantes genéticas: |
fr-FR | French (France) | Variant génétique étudié: |
it-IT | Italian (Italy) | Variante genetica, valutazione: Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | genetische variant evaluatie: Synonyms: molgen |
pt-BR | Portuguese (Brazil) | Variante genética avaliação: |
ru-RU | Russian (Russian Federation) | Генетического варианта исследование: Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | Genetik varyant değerlendirme: |
zh-CN | Chinese (China) | 遗传变异评估: Synonyms: HL7 遗传学 全血或组织; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=69548-6
Third Party Copyright
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LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright