Version 2.77

Basic Properties

OID
1.3.6.1.4.1.12009.10.1.1186
Name
Wild type-Hetero-Homo
Description
Wild type, heterzygous, homozygous
LOINCs using this list
21

Answer List

Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

LOINC terms using this Answer List

72506-9 ABCB1 gene c.3435C>T [Presence] in Blood or Tissue by Molecular genetics method
70246-4 CCR2 gene p.Val64Ile [Presence] in Blood or Tissue by Molecular genetics method
70247-2 CCR5 gene c.794_825del [Presence] in Blood or Tissue by Molecular genetics method
70244-9 CFTR gene c.394delTT [Presence] in Blood or Tissue by Molecular genetics method
70243-1 CLN3 gene exon 7+8 deletion [Presence] in Blood or Tissue by Molecular genetics method
72697-6 CYP3A5 gene c.6986A>G(*3) [Presence] in Blood or Tissue by Molecular genetics method
95555-9 F7 gene p.Arg353Gln [Genotype] in Blood or Tissue by Molecular genetics method Nominal
70041-9 FSHB gene c.-211G>T [Presence] in Blood or Tissue by Molecular genetics method
70248-0 GALT gene p.Gln188Arg [Presence] in Blood or Tissue by Molecular genetics method
74692-5 MT-ND6 gene m.14459G>A [Presence] in Blood or Tissue by Molecular genetics method
100665-9 NUDT15 gene c.415C>T [Presence] in Blood by Molecular genetics method
100666-7 NUDT15 gene c.416G>A [Presence] in Blood by Molecular genetics method
100669-1 NUDT15 gene c.50_55del [Presence] in Blood by Molecular genetics method
100668-3 NUDT15 gene c.50_55dup [Presence] in Blood by Molecular genetics method
100664-2 NUDT15 gene c.50_55dup and c.415C>T [Presence] in Blood by Molecular genetics method
100667-5 NUDT15 gene c.52G>A [Presence] in Blood by Molecular genetics method
70245-6 PAH gene.p.Arg408Trp [Presence] in Blood or Tissue by Molecular genetics method
94717-6 SLC25A15 gene c.562_564delTTC [Genotype] in Blood or Tissue by Molecular genetics method Nominal
100663-4 TPMT gene c.460G>A and c.719A>G [Presence] in Blood by Molecular genetics method
72508-5 UGT1A1 gene c.A(TA)7TAA(*28) [Presence] in Blood or Tissue by Molecular genetics method
72507-7 VKORC1 gene c.1173C>T [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/$lookup?system=http://loinc.org&code=LL2014-0
ValueSet definition
https://fhir.loinc.org/ValueSet/?url=http://loinc.org/vs/LL2014-0
ValueSet expansion
https://fhir.loinc.org/ValueSet/$expand?url=http://loinc.org/vs/LL2014-0