LOINC
Version 2.67

77170-9PDGFRA gene p.Asp842Val [Presence] in Blood or Tissue by Molecular genetics methodActive

Part Description

LP189731-5   PDGFRA gene.p.Asp842Val
The D842V (Asp842Val) mutation is located in exon 18 of the PDGFRA gene. The mutation has been found in a subset of patient's with gastrointestinal stromal tumors (GISTs). D842V is known to cause resistance to imatinib, a tyrosine kinase inhibitor. [PMID: 15928335] Source: Regenstrief LOINC, P

Fully-Specified Name

Component
PDGFRA gene.p.Asp842Val
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
PDGFRA p.D842V Bld/T Ql
Display Name
PDGFRA gene p.Asp842Val Molgen Ql (Bld/Tiss)

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.56
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; 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

Example Answer List LL360-9

Source: Regenstrief Institute

Answer Code Score Answer ID
Positive Copyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
Negative Copyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6

Language Variants Get Info

zh-CNChinese (CHINA)
PDGFRA 基因.p.D842V: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
nl-NLDutch (NETHERLANDS)
PDGFRA-gen.p.D842V:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
fr-FRFrench (FRANCE)
PDGFRA gène p.Asp842Val:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (ITALY)
PDGFRA, gene.p.Asp842Val:PrThr:Pt:Sangue/Tess:Ord:Molgen
es-ESSpanish (SPAIN)
Gen PDGFRA p.D842V:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
tr-TRTurkish (TURKEY)
PDGFRA geni.p.D842V:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=77170-9