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Term Description

The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.

LOINC Names Get Info

Fully-Specified Name
Allelic state:Find:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
Allelic state
Short Name
Allelic state
Display Name
Allelic state Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
Allelic state, Blood or tissue specimen

Part Model Get Info

  • Component
    Allelic state
    LP69969-1
    • Analyte
      Allelic state
      LP69969-1
      • Component Numerator
        Allelic state
        LP69969-1
        • Component Numerator Core
          Allelic state
          LP69969-1
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Preferred Answer List: LL381-5

Source: Regenstrief LOINC
AnswerCodeScoreAnswer ID
HeteroplasmicLA6703-8
HomoplasmicLA6704-6
HomozygousLA6705-3
HeterozygousLA6706-1
HemizygousLA6707-9

Basic Attributes

Class
HL7.GENETICS
Type
Laboratory
First Released
Version 2.24
Last Updated
Version 2.68 (MIN)
Order vs. Observation
Observation

Member of these Panels

LOINCLong Common Name
51960-3DNA marker results panel
55233-1Genetic analysis master panel
81247-9Master HL7 genetic variant reporting panel

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Alelický stav:Nález:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Κατάσταση αλληλομόρφων:Εύρεση:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: HL7.GENETICS Nom Pt Αίμα Αίμα/Ιστός Εύρεση Ιστός Κατάσταση Κατάσταση αλληλομόρφων Μοριακή γενετική
es-ESSpanish (Spain)Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Estado alélico:Hallazgo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)Statut allélique:Recherche:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)Stato allelico:Osservazione:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Osservazione Punto nel tempo (episodio) Referto clinico di test genetico Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)allelstatus:bevinding:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen
pl-PLPolish (Poland)Status alleliczny:stwierdzenie:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna wynik kategorialny
pt-BRPortuguese (Brazil)Estado alélicas:Achado:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Finding; Findings; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; MOLPATH.GENERAL
ru-RURussian (Russian Federation)Аллельное состояние:Находка:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)Allelik durum:Bulgu:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)等位状态:发现:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 州;邦;政府;国家;状况;情况 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 等位基因状态 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=53034-5