Version 2.77

Term Description

This term is used to report the specific CDH1 deletion/duplication found, or that no deletions/duplications were found. The LOINC term that represents the overall report for CDH1 deletion/duplication and full mutation analysis is [LOINC: 94240-9].
Source: Regenstrief LOINC

Part Description

LP19682-1   CDH1 gene
The CDH1 gene (cadherin 1, type 1, E-cadherin (epithelial)) [HGNC Gene ID:1748] is located on chromosome 16q22.1. This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:999] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
CDH1 gene deletion+duplication
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CDH1 gene Del+Dup Bld/T
Display Name
CDH1 gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CDH1 gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-MX Spanish (Mexico) Deleción + duplicación del gen CDH1:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
es-ES Spanish (Spain) Gen CDH1 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FR French (France) CDH1 gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CDH1, gene Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene CDH1 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CDH1-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CDH1 gen molgen
ru-RU Russian (Russian Federation) CDH1 ген делеция+дупликация: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) CDH1 geni delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: çiftleme
zh-CN Chinese (China) CDH1 基因 缺失+重复: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: CDHE;E-cadherin 基因;E-钙依赖性粘附蛋白基因;E-钙依赖性黏附蛋白基因;E-钙粘素基因;E-钙粘蛋白基因;E-钙粘连蛋白基因;E-钙粘附素基因;E-钙黏蛋白基因;UVO;Uvomorulin;上皮型钙粘蛋白;上皮型钙黏蛋白;上皮细胞型钙依赖性粘附蛋白;上皮细胞型钙依赖性粘附蛋白基因;桑椹胚粘着蛋白;桑椹胚黏着蛋白;钙依赖性粘附蛋白 1;钙粘素 1;钙粘连蛋白 1;钙粘附素 1 全血或组织;血液/组织;血液或组织 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 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 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=96973-3