Version 2.77

Fully-Specified Name

Component
PMP22 gene allele 1
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
PMP22 allele1 Bld/T Ql
Display Name
PMP22 gene allele 1 Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
PMP22 gene allele 1, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.13
Last Updated
Version 2.56
Change Reason
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
Observation

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) determinación de mutaciones del gen PMP22:concentración arbitraria:punto en el tiempo:tejido, no especificado:ordinal:
es-ES Spanish (Spain) Gen PMP22 alelo 1:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Alelo 1 del gen PMP22:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) PMP22 gène allèle 1:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) PMP22, allele 1 gene:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Allele 1 del gene PMP22 Gene PMP22 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) PMP22 유전자 대립유전자 1:임의농도:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) PMP22-allel 1:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen PMP22 gen
pt-BR Portuguese (Brazil) PMP22 gene alelo 1:ACnc:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; PMP22 allele1; Growth arrest specific gene 3; GAS3; Hereditary neuropathy with liAcility to pressure palsies; Charcot-Marie Tooth disease; CMT; Dejerine-Sottas syndrome; CMT1A; HNPP; Sp110; Peripheral myelin protein 22; PMP-22; Arbitrary concentration; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; I; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) PMP22 ген аллель 1:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) PMP22 geni allel 1:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) PMP22 基因 等位基因 1: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: Ⅰ Charcot-Marie-Tooth 病;CMT;CMT1A;Dejerine-Sottas 综合征;GAS3;HNPP;PMP-22;Sp110;外周髓鞘蛋白 22;易压迫性麻痹之遗传性神经病变;生长停滞特异性基因 3;腓骨肌萎缩症;遗传性压力敏感性周围神经病;遗传性压力易感性神经病变;遗传性压迫易感性神经病 I PMP22 等位基因 1 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.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 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 血;血液 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35324-3