Version 2.78

Term Description

The patient's genotype (e.g. heterozygous) for the 3-bp deletion (c.562_564delTTC) in the SLC25A15 gene.
Source: Regenstrief LOINC

Fully-Specified Name

Component
SLC25A15 gene.c.562_564delTTC
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
SLC25A15 c.562_564delTTC Geno Bld/T
Display Name
SLC25A15 gene c.562_564delTTC genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
SLC25A15 gene c.562_564delTTC genotype, Blood or tissue specimen

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.68
Last Updated
Version 2.68
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen SLC25A15 c.562_564delTTC:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) SLC25A15 gene.c.562_564delTTC:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) SLC25A15 gène mutation c.562_564delTTC:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) SLC25A15, gene.c.562_564delTTC:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene SLC25A15 c.562_564delTTC Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) SLC25A15-gen.c.562_564delTTC:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
zh-CN Chinese (China) SLC25A15 基因.c.562_564delTTC:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94717-6