Version 2.77

Term Description

Codified type for associated DNA Marker. DNA Marker's use the HGVS notation which implies the DNA 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
DNA change type
Property
Type
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
DNA Change Type
Display Name
DNA change type Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
DNA change type, Blood or tissue specimen

Preferred Answer List: LL379-9

Source: Regenstrief LOINC
Answer Code Score Answer ID
Wild type LA9658-1
Deletion LA6692-3
Duplication LA6686-5
Insertion LA6687-3
Insertion/Deletion LA6688-1
Inversion LA6689-9
Substitution LA6690-7

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.21
Last Updated
Version 2.64
Change Reason
Updated LCN per CJM for HL7 CG IG; Changed Component from "DNA sequence variation type" to conform with balloted HL7 v2 IG
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name Answer List Answer List Type Answers
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 LL4033-8 Preferred 17
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 del ADN:Tipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Tipo de cambio de ADN:Tipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-CA French (Canada) Type de variation de l'ADN:Type:Temps ponctuel:Sang/Tissu:Nominal:Molgen
fr-FR French (France) ADN type de variation:Type:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) DNA, cambio tipo:Tipo:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Cambio di DNA Cambio tipo di DNA Genetica molecolare Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
pt-BR Portuguese (Brazil) Tipo de variação de sequência de DNA:Tipo:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ; DNA seq var type; DNA change type; Deoxyribonucleic acid; Typ; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
zh-CN Chinese (China) DNA 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: DNA 改变 DNA 改变类型 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 去氧核糖核酸;脱氧核糖核酸;脱氧核糖核酸(Deoxyribonucleic acid,DNA) 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

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=48019-4