Version 2.78

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

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

Preferred Answer List: LL380-7

Source: Regenstrief LOINC
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

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
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-ES Spanish (Spain) Tipo de cambio aminoacídico:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Tipo de cambio de aminoácidos:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) Acides aminés type de substitution:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) Aminoacido, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di aminoacido Cambio tipo di aminoacido Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) aminozuurwijzigingstype:type:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen soort
pt-BR Portuguese (Brazil) Tipo de mudança de amino ácido:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Exchange; Replace; Acd; Acids; MOLPATH.GENERAL
ru-RU Russian (Russian Federation) Аминокислота изменение тип:Тип:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) Amino asit değişimi tipi:Tip:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: Tür
zh-CN Chinese (China) 氨基酸变化类型:类型: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 型 时刻;随机;随意;瞬间 替换 未作说明的组织;组织;组织 & 涂片 置换 血;血液 酸

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48006-1