Version 2.78

Basic Properties

OID
1.3.6.1.4.1.12009.10.1.1460
Name
Triplet repeat genetic results
Description
not expanded, intermediate, reduced penetrance or expanded
LOINCs using this list
5

Answer List

Answer Code Score Answer ID
Not Expanded LA19353-4
Intermediate LA16550-8
Reduced penetrance LA19354-2
Expanded LA19352-6

LOINC terms using this Answer List

35375-5 DMPK gene allele 1 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method
35374-8 DMPK gene allele 2 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method
21757-0 DMPK gene CTG repeats [Presence] in Blood or Tissue by Molecular genetics method
75393-9 HTT gene CAG repeats [Presence] in Amniotic fluid or Chorionic villus sample by Molecular genetics method
21763-8 HTT gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LL2303-7
ValueSet definition
https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL2303-7
ValueSet expansion
https://fhir.loinc.org/ValueSet/$expand?url=http://loinc.org/vs/LL2303-7