Version 2.80

Part Description

LP33051-1   Dysferlin
Dysferlin also known as dystrophy-associated fer-1-like protein is a protein that in humans is encoded by the DYSF gene. Dysferlin is linked with skeletal muscle repair. A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B). A reduction or absence of dysferlin usually becomes apparent in the third or forth decade of life and is characterised by weakness and wasting of various voluntary skeletal muscles. Copyright Text is available under the Creative Commons Attribution/Share-Alike License. See http://creativecommons.org/licenses/by-sa/3.0/ for details. Source: Wikipedia , Wikipedia

Fully-Specified Name

Component
Dysferlin
Property
PrThr
Time
Pt
System
WBC
Scale
Ord
Method

Additional Names

Long Common Name
Dysferlin [Presence] in Leukocytes
Short Name
Dysferlin WBC Ql
Display Name
Dysferlin Ql (WBC)
Consumer Name Alpha Get Info
Dysferlin, White blood cells

Basic Attributes

Class
CHEM
Type
Laboratory
First Released
Version 2.11
Last Updated
Version 2.56 (MIN)
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
Both

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Δυσφερλίνη:PrThr:Pt:Αριθμός λευκών αιμοσφαιρίων:Ord:
Synonyms: PrThr Δυσφερλίνη
es-AR Spanish (Argentina) disferlina:concentración arbitraria:punto en el tiempo:leucocito:ordinal:
es-ES Spanish (Spain) Disferlina:PrThr:Punto temporal:Células sanguineas blancas:Ord:
es-MX Spanish (Mexico) Dysferlin:Presencia o umbral:Punto temporal:células blancas de la sangre:Ordinal:
et-EE Estonian (Estonia) Düsferliin:PrThr:Pt:WBC:Ord:
Synonyms: Järgarvuline Juhuslik Leukotsüüdid
fr-CA French (Canada) Dysferline:Présence-Seuil:Temps ponctuel:Leucocytes:Ordinal:
fr-FR French (France) Dysferline:Présence/Seuil:Ponctuel:Leucocytes:Qualitatif:
fr-BE French (Belgium) Dysferline:PrThr:Temps ponctuel:Leucocytes:Ordinal:
it-IT Italian (Italy) Disferlina:PrThr:Pt:WBC:Ord:
Synonyms: Chimica Globuli bianchi Presenza o Soglia Punto nel tempo (episodio)
ko-KR Korean (Korea, Republic Of) 디스펠린:임의농도:검사시점:백혈구:순위척도:
nl-NL Dutch (Netherlands) dysferline:aanwezigheid:moment:leukocyten:ordinaal:
Synonyms: witte bloedcellen
pt-BR Portuguese (Brazil) Disferlina:ACnc:Pt:Leucoc:Ord:
Synonyms: Arbitrary concentration; Point in time; Random; Leukocytes; White blood cells; Leucocs; Ql; Ordinal; QL; Qualitative; Qual; Screen; Chemistry
ru-RU Russian (Russian Federation) Дисферлин:PrThr:ТчкВрм:Лейкоциты:Пор:
Synonyms: Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) Disferlin:MevcEşik:Zmlı:Lökosit:Srl:
Synonyms: Mevcut WBC
zh-CN Chinese (China) 肌养蛋白:存在情况或阈值:时间点:白细胞:序数型:
Synonyms: Dysferlin;迪斯弗林蛋白;肌养素;肌养因子;与浆膜内环境有关的一种跨膜蛋白，可能与肌膜的修复有关。基因符号为DYSF，有55个外显子，包含150 kb的DNA基因组，在骨骼肌、心肌、肾、胎盘、肺和脑均有表达，但主要在骨骼肌和心肌表达。;Dysferlin 蛋白 WBC;WBCs;白血球;白血细胞 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 化学;化学检验项目;化学检验项目类;化学类;化学试验;非刺激耐受型化学检验项目;非刺激耐受型化学检验项目类;非刺激耐受型化学试验;非刺激耐受型化学试验类 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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=35124-7