Basic Properties

OID
1.3.6.1.4.1.12009.10.1.2243
Name
Example PSEN2 gene variants
Description
Answers: 5; Scale: Nom; Code: -; Score: -
LOINCs using this list
1

Answer List

Link to External List
http://www.omim.org/allelicVariant/600759
AnswerCodeScoreAnswer ID
p.Asn141IleLA23943-6
p.Met239ValLA23944-4
p.Asp439AlaLA23945-1
p.Thr430MetLA23946-9
p.Thr122ProLA23947-7

LOINC terms using this Answer List

77628-6PSEN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL3605-4
ValueSet definition
https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL3605-4
ValueSet expansion
https://fhir.loinc.org/ValueSet/$expand?url=http://loinc.org/vs/LL3605-4