NHS North West Genomics
0.0.8 - ci-build United Kingdom flag

NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

ValueSet: Genomic Finding Detected

Official URL: https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicFindingDetected Version: 0.0.8
Draft as of 2025-10-31 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.ontoserver.csiro.au based on SNOMED CT United Kingdom edition 02-Jul 2025

This value set contains 26 concepts

SystemCodeDisplay (en)JSONXML
http://snomed.info/sct  204871000237101Apolipoprotein B gene mutation positive
http://snomed.info/sct  204901000237101Apolipoprotein E gene mutation positive
http://snomed.info/sct  412734009BRCA1 gene mutation detected
http://snomed.info/sct  412738007BRCA2 gene mutation detected
http://snomed.info/sct  445333001Breast cancer genetic marker of susceptibility detected
http://snomed.info/sct  912201000000104FBN1 gene mutation positive
http://snomed.info/sct  412731001Genetic finding detected
http://snomed.info/sct  1141749000Genetic susceptibility to malignant hyperthermia due to calcium voltage-gated channel subunit alpha1 S gene mutation
http://snomed.info/sct  1010400009Genetic susceptibility to malignant hyperthermia due to ryanodine receptor 1 gene mutation
http://snomed.info/sct  1296783008Hereditary alpha-tryptasaemia trait detected
http://snomed.info/sct  1099611000119109Hereditary non-polyposis colon cancer gene mutation detected
http://snomed.info/sct  1279971008Heterozygous NFKBIA gene mutation detected
http://snomed.info/sct  702783007Heterozygous protocadherin 19 gene mutation detected
http://snomed.info/sct  738783002HLA-A*31:01 detected
http://snomed.info/sct  738785009HLA-B*15:02 detected
http://snomed.info/sct  738288005HLA-B*57:01 detected
http://snomed.info/sct  739072007HLA-B*58:01 positive
http://snomed.info/sct  1162602001Human epidermal growth factor receptor 2 gene amplification detected
http://snomed.info/sct  248211000000106Human epidermal growth factor receptor 2 gene positive
http://snomed.info/sct  1003641004Human leucocyte antigen DQB1*02:02 positive
http://snomed.info/sct  713597002Human leukocyte antigen B5701 detected
http://snomed.info/sct  204891000237102Low density lipoprotein receptor gene mutation positive
http://snomed.info/sct  702782002Mitochondrial 1555 A to G mutation detected
http://snomed.info/sct  204881000237104Proprotein convertase subtilisin/kexin type 9 gene mutation positive
http://snomed.info/sct  1357792009PTEN (phosphatase and tensin homolog) gene mutation detected
http://snomed.info/sct  719007008Tumour protein p53 detected

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