NHS North West Genomics
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NHS North West Genomics - Local Development build (v2.1.4) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Genomic Finding Detected

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFindingDetected Version: 2.1.4
Draft as of 2026-07-24 Computable Name: GenomicFindingDetected

Genomic Finding Detected

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include codes fromhttp://snomed.info/sct version Not Stated (use latest from terminology server) where concept is-a 412731001 (Positive genetic finding (finding))

 

Expansion

Expansion from tx.fhir.org based on SNOMED CT United Kingdom edition 12-Apr 2023

This value set contains 21 concepts

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  412731001Positive genetic finding
http://snomed.info/sct  412734009BRCA1 gene mutation positive
http://snomed.info/sct  412738007BRCA2 gene mutation positive
http://snomed.info/sct  445333001Breast cancer genetic marker of susceptibility positive
http://snomed.info/sct  702782002Mitochondrial 1555 A to G mutation positive
http://snomed.info/sct  702783007Heterozygous protocadherin 19 gene mutation positive
http://snomed.info/sct  719007008Mutation of p53 gene
http://snomed.info/sct  738288005HLA-B*57:01 positive
http://snomed.info/sct  738783002HLA-A*31:01 positive
http://snomed.info/sct  738785009Human leukocyte antigen B*15:02 positive
http://snomed.info/sct  739072007Human leukocyte antigen B*58:01 positive
http://snomed.info/sct  1003641004Human leukocyte antigen DQB1*02:02 positive
http://snomed.info/sct  1010400009Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation positive
http://snomed.info/sct  1141749000Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation positive
http://snomed.info/sct  204871000237101Apolipoprotein B gene mutation positive
http://snomed.info/sct  204881000237104Proprotein convertase subtilisin/kexin type 9 gene mutation positive
http://snomed.info/sct  204891000237102Low density lipoprotein receptor gene mutation positive
http://snomed.info/sct  204901000237101Apolipoprotein E gene mutation positive
http://snomed.info/sct  248211000000106Human epidermal growth factor receptor 2 gene positive
http://snomed.info/sct  912201000000104FBN1 gene mutation positive
http://snomed.info/sct  1099611000119109Hereditary non-polyposis colon cancer gene mutation positive

Description of the above table(s).