NHS North West Genomics
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NHS North West Genomics - Local Development build (v0.1.0) 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: 0.1.0
Draft as of 2025-12-19 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 expansion contains 21 concepts.

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  412731001Positive genetic finding (finding)
http://snomed.info/sct  412734009BRCA1 gene mutation positive (finding)
http://snomed.info/sct  412738007BRCA2 gene mutation positive (finding)
http://snomed.info/sct  445333001Breast cancer genetic marker of susceptibility positive (finding)
http://snomed.info/sct  702782002Mitochondrial 1555 A to G mutation positive
http://snomed.info/sct  702783007Heterozygous protocadherin 19 gene mutation positive (finding)
http://snomed.info/sct  719007008Mutation of p53 gene
http://snomed.info/sct  738288005HLA-B*57:01 positive
http://snomed.info/sct  738783002Human leukocyte antigen A*31:01 positive (finding)
http://snomed.info/sct  738785009Human leukocyte antigen B*15:02 positive
http://snomed.info/sct  739072007Human leukocyte antigen B*58:01 positive (finding)
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 (finding)
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 (finding)
http://snomed.info/sct  248211000000106Human epidermal growth factor receptor 2 gene positive (finding)
http://snomed.info/sct  912201000000104Fibrillin 1 gene mutation positive (finding)
http://snomed.info/sct  1099611000119109Hereditary non-polyposis colon cancer gene mutation positive (finding)

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code