Version 2.77

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: HL7
Answer 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:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Evaluación de variantes genéticas:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Variant génétique étudié:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Variante genetica, valutazione:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci Valutazione di variante genetica
nl-NL Dutch (Netherlands) genetische variant evaluatie:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Variante genética avaliação:Achado:Pt:Sg/Tecido:Nom:Genética molecular
ru-RU Russian (Russian Federation) Генетического варианта исследование:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Генетического варианта определение Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Genetik varyant değerlendirme:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 遗传变异评估:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: HL7 遗传学 全血或组织;血液/组织;血液或组织 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 评价;估计;估价;评论;估定;估算 遗传变异（遗传性变异、基因变异、传性变型、遗传变异体、基因变异体）评估（评价、估计、估价、评论、估定、估算）;遗传变异体评估

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=69548-6