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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

LOINC Names Get Info

Fully-Specified Name
CARD11 gene mutations:Prid:Pt:Bld/Tiss:Nom:Targeted gene mutation analysis
Long Common Name
CARD11 gene mutations found [Identifier] in Blood or Tissue by Targeted gene mutation analysis Nominal
Short Name
CARD11 Mut Bld/T Mut Anl
Display Name
CARD11 gene mutations found Targeted gene mutation analysis Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CARD11 gene mutations found, Blood or tissue specimen

Part Model Get Info

  • Component
    CARD11 gene mutations
    LP452198-7
    • Analyte
      CARD11 gene mutations
      LP452198-7
      • Component Numerator
        CARD11 gene mutations
        LP452198-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Targeted gene mutation analysis
    LP95475-7

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.83 (NAM)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CARD11 cílená mutační analýza:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CARD11 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CARD11 Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen CARD11:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
es-ESSpanish (Spain)Gen CARD11 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
fr-FRFrench (France)CARD11 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (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-NLDutch (Netherlands)CARD11-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
pl-PLPolish (Poland)CARD11 gen ukierunkowana analiza mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: Analiza mutacji genu CARD11 diagnostyka molekularna Gen CARD11 wynik kategorialny
zh-CNChinese (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