Version 2.77

Term Description

Human Genome Variation Society (HGVS) nomenclature for conveying an alteration to the associated reference sequences used to define the genome as a basis for comparison with actual results.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Reference sequence alteration
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
Ref sequence alteration
Display Name
Reference sequence alteration Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Reference sequence alteration, 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

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
48015-2 Individual allele panel
51975-1 Individual allele results panel

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Alteración de la secuencia de referencia:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Séquence de référence altération:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Sequenza di riferimento, alterazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Alterazione di sequenza di riferimento Genetica molecolare Presenza o Identità Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) referentie sequentie wijziging:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pt-BR Portuguese (Brazil) Referência alteração da seqüência:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; Ref sequence alteration; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Референсная последовательность альтерация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Referans sekans değişmesi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) 参考序列改变:存在与否或特征标识: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 参考序列变更;参考序列变化;参考序列改动;参考序列更改 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=53045-1