Version 2.77

Part Description

LP422604-1   CARD11 gene
The CARD11 gene, located on chromosome 7, encodes the caspase recruitment domain family member 11 protein, which is involved in the development and function of T and B cells. CARD11 mutations are associated with a variety of disorders, including atopic dermatitis and other allergic conditions including asthma and environmental allergies, other immune disorders, and Omenn syndrome. Immune disorders associated with CARD11 include specific types of severe combined immunodeficiency (SCID) and B-cell expansion with NF-κB and T-cell anergy (BENTA). CARD11 mutations are also associated with diffuse large B-cell lymphoma and adult T-cell leukemias and lymphomas. [MedlinePlus Gene: CARD11] Source: Regenstrief LOINC

Fully-Specified Name

Component
CARD11 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CARD11 Mut Anl Bld/T
Display Name
CARD11 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CARD11 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen CARD11 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CARD11:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FR French (France) CARD11 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CARD11, gene Gene CARD11 analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CARD11-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) CARD11 基因 突变分析: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: Caspase Recruitment Domain Family Member 11 gene;Caspase 募集结构域家族成员 11 基因;Caspase 募集域家族成员 11 基因 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 基因突变分析 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 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=96965-9