Version 2.78

Fully-Specified Name

Component
FRAXE gene.CGG repeats
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
FRAXE gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method
Short Name
FRAXE gene CGG Rpt Bld/T Ql
Display Name
FRAXE gene CGG repeats Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
FRAXE gene CGG Repeats, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.NUCREPEAT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
Change Reason
Changed Property from Arb (Arbitrary) to 'Threshold' since the results (e.g. positive, intermediate, negative) is based on the number of nucleotide repeats. Moved term from Class MOLPATH.TRINUC to MOLPATH.NUCREPEAT, a Class used to group together observations for nucleotide repeats.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
6707

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen FMR2.repeticiones CGG:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Repeticiones CGG del gen FRAXE:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen FRAXE repeticiones CGG:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) FRAXE gène répétitions CGG:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) FRAXE, gene.CGG ripetizioni:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Genetica molecolare Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Ripetizione nucleotidi Ripetizioni CGG nel gene FRAXE, CGG repeats Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) FRAXE 유전자.CGG 반복:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) FRAXE-gen.CGG repeats:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: FRAXE gen.CGG repeats molgen
pt-BR Portuguese (Brazil) FRAXE gene.CGG repetições:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; FRAXE gene CGG Rpt; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; Repeat; Fragile X; Fragile X mental retardation 2; MRX2; FRAXF; FMR2; MOLPATH.TRINUCLEOTIDE REPEATS; MOLPATH.TRINUCLEOTIDE REPEATS; Molecular pathology
ru-RU Russian (Russian Federation) FRAXE ген.CGG повторы:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) FRAXE geni.CGG tekrarları:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) FRAXE 基因.CGG 重复序列:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: FMR2 Fragile X FRAXF MRX2 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 脆弱 X 智能障碍 2 型 脆性 X 脆性 X 智力低下 2 型 脆性 X 智力低下 2 型（Fragile X mental retardation 2，FMR2） 脆性 X 综合征智力低下 血;血液 遗传基因;遗传因子;吉恩;生物基因 重复

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https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21760-4