NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics
2.2.0 - ci-build
NHS North West Genomics - Local Development build (v2.2.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
| Active as of 2025-05-06 |
{
"resourceType" : "CodeSystem",
"id" : "NWGMSA",
"language" : "en",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: CodeSystem NWGMSA</b></p><a name=\"NWGMSA\"> </a><a name=\"hcNWGMSA\"> </a><p>This case-sensitive code system <code>https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA</code> defines the following codes:</p><table class=\"codes\"><tr><td style=\"white-space:nowrap\"><b>Code</b></td><td><b>Display</b></td></tr><tr><td style=\"white-space:nowrap\">SouthEastAsian<a name=\"NWGMSA-SouthEastAsian\"> </a></td><td>South East Asian</td></tr><tr><td style=\"white-space:nowrap\">NorthernEuropean<a name=\"NWGMSA-NorthernEuropean\"> </a></td><td>Northern European</td></tr><tr><td style=\"white-space:nowrap\">JewishNOS<a name=\"NWGMSA-JewishNOS\"> </a></td><td>Jewish NOS</td></tr><tr><td style=\"white-space:nowrap\">IrishTraveller<a name=\"NWGMSA-IrishTraveller\"> </a></td><td>Gypsy/Traveller/ Irish Traveller</td></tr><tr><td style=\"white-space:nowrap\">Traveller<a name=\"NWGMSA-Traveller\"> </a></td><td>Gypsy/Traveller</td></tr><tr><td style=\"white-space:nowrap\">Roma<a name=\"NWGMSA-Roma\"> </a></td><td>Roma</td></tr><tr><td style=\"white-space:nowrap\">AshkenaziJew<a name=\"NWGMSA-AshkenaziJew\"> </a></td><td>Ashkenazi Jew, follower of religion (person)</td></tr><tr><td style=\"white-space:nowrap\">RareAndInheritedDiseasesGeneticTesting<a name=\"NWGMSA-RareAndInheritedDiseasesGeneticTesting\"> </a></td><td>Rare and inherited diseases Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">PreNatalGeneticTesting<a name=\"NWGMSA-PreNatalGeneticTesting\"> </a></td><td>Pre Natal Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">HaemoglobinopathyGeneticTesting<a name=\"NWGMSA-HaemoglobinopathyGeneticTesting\"> </a></td><td>Haemoglobinopathy Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">CancerGeneticTesting<a name=\"NWGMSA-CancerGeneticTesting\"> </a></td><td>Cancer Genetic Testing (procedure)</td></tr><tr><td style=\"white-space:nowrap\">GeneticistEmail<a name=\"NWGMSA-GeneticistEmail\"> </a></td><td>Clinical Geneticist email</td></tr><tr><td style=\"white-space:nowrap\">GeneticistDepartmentEmail<a name=\"NWGMSA-GeneticistDepartmentEmail\"> </a></td><td>Clinical Geneticist department email</td></tr><tr><td style=\"white-space:nowrap\">RODToFollow<a name=\"NWGMSA-RODToFollow\"> </a></td><td>ROD attached or to follow</td></tr><tr><td style=\"white-space:nowrap\">InfectionRiskDetails<a name=\"NWGMSA-InfectionRiskDetails\"> </a></td><td>High infection Risk Details</td></tr><tr><td style=\"white-space:nowrap\">VariantReinterpretationReason<a name=\"NWGMSA-VariantReinterpretationReason\"> </a></td><td>Reason For Variant Re-Interpretation Request</td></tr><tr><td style=\"white-space:nowrap\">SampleSent<a name=\"NWGMSA-SampleSent\"> </a></td><td>Date and time sample sent</td></tr><tr><td style=\"white-space:nowrap\">TransportUsed<a name=\"NWGMSA-TransportUsed\"> </a></td><td>Transport used</td></tr><tr><td style=\"white-space:nowrap\">SampleSentTo<a name=\"NWGMSA-SampleSentTo\"> </a></td><td>Sample sent to</td></tr><tr><td style=\"white-space:nowrap\">SampleSentToName<a name=\"NWGMSA-SampleSentToName\"> </a></td><td>Name of person who sent sample</td></tr><tr><td style=\"white-space:nowrap\">TESTOUTCOME<a name=\"NWGMSA-TESTOUTCOME\"> </a></td><td>NHS England Genomics Test Outcome</td></tr><tr><td style=\"white-space:nowrap\">FamilyStructure<a name=\"NWGMSA-FamilyStructure\"> </a></td><td>Family Structure</td></tr><tr><td style=\"white-space:nowrap\">ParticipantType<a name=\"NWGMSA-ParticipantType\"> </a></td><td>Participant Type</td></tr><tr><td style=\"white-space:nowrap\">RelatedIndividualRole<a name=\"NWGMSA-RelatedIndividualRole\"> </a></td><td>Related Individual Role</td></tr><tr><td style=\"white-space:nowrap\">RoleConsultand<a name=\"NWGMSA-RoleConsultand\"> </a></td><td>Consultand</td></tr><tr><td style=\"white-space:nowrap\">RoleProband<a name=\"NWGMSA-RoleProband\"> </a></td><td>Proband</td></tr><tr><td style=\"white-space:nowrap\">230056<a name=\"NWGMSA-230056\"> </a></td><td>What Type of Referral Do You Require?</td></tr><tr><td style=\"white-space:nowrap\">230016<a name=\"NWGMSA-230016\"> </a></td><td>Test Type</td></tr><tr><td style=\"white-space:nowrap\">231284<a name=\"NWGMSA-231284\"> </a></td><td>Please Select R240 Test(s):</td></tr><tr><td style=\"white-space:nowrap\">231285<a name=\"NWGMSA-231285\"> </a></td><td>Please Select R242 Test(s):</td></tr><tr><td style=\"white-space:nowrap\">230027<a name=\"NWGMSA-230027\"> </a></td><td>Email Addresses of Non-MFT Clinicians for Result Reports</td></tr><tr><td style=\"white-space:nowrap\">230037<a name=\"NWGMSA-230037\"> </a></td><td>Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing</td></tr><tr><td style=\"white-space:nowrap\">230039<a name=\"NWGMSA-230039\"> </a></td><td>Is the Person Ordering the Test the Referring Clinician</td></tr><tr><td style=\"white-space:nowrap\">GENEAP<a name=\"NWGMSA-GENEAP\"> </a></td><td>GENETICS TEST PERFORMABLE</td></tr><tr><td style=\"white-space:nowrap\">unknown<a name=\"NWGMSA-unknown\"> </a></td><td>Unknown</td></tr><tr><td style=\"white-space:nowrap\">ZCID<a name=\"NWGMSA-ZCID\"> </a></td><td>Container Identifier</td></tr><tr><td style=\"white-space:nowrap\">Patient<a name=\"NWGMSA-Patient\"> </a></td><td>Patient</td></tr><tr><td style=\"white-space:nowrap\">Donor<a name=\"NWGMSA-Donor\"> </a></td><td>Donor</td></tr><tr><td style=\"white-space:nowrap\">StemCell<a name=\"NWGMSA-StemCell\"> </a></td><td>Stem cell</td></tr><tr><td style=\"white-space:nowrap\">Renal<a name=\"NWGMSA-Renal\"> </a></td><td>Renal</td></tr><tr><td style=\"white-space:nowrap\">Thoracic<a name=\"NWGMSA-Thoracic\"> </a></td><td>Thoracic</td></tr><tr><td style=\"white-space:nowrap\">Kidney<a name=\"NWGMSA-Kidney\"> </a></td><td>Kidney</td></tr><tr><td style=\"white-space:nowrap\">Pancreas<a name=\"NWGMSA-Pancreas\"> </a></td><td>Pancreas</td></tr><tr><td style=\"white-space:nowrap\">Islets<a name=\"NWGMSA-Islets\"> </a></td><td>Islets</td></tr><tr><td style=\"white-space:nowrap\">SimultaneousPancreasKidney<a name=\"NWGMSA-SimultaneousPancreasKidney\"> </a></td><td>Simultaneous Pancreas/Kidney</td></tr><tr><td style=\"white-space:nowrap\">SimultaneousIsletKidney<a name=\"NWGMSA-SimultaneousIsletKidney\"> </a></td><td>Simultaneous Islet/Kidney</td></tr><tr><td style=\"white-space:nowrap\">HLATypingAntibodyScreening<a name=\"NWGMSA-HLATypingAntibodyScreening\"> </a></td><td>HLA Typing + Antibody Screening</td></tr><tr><td style=\"white-space:nowrap\">HLAAntibodyScreening<a name=\"NWGMSA-HLAAntibodyScreening\"> </a></td><td>HLA Antibody Screening</td></tr><tr><td style=\"white-space:nowrap\">HLATypeRecipient<a name=\"NWGMSA-HLATypeRecipient\"> </a></td><td>HLA Type Recipient</td></tr><tr><td style=\"white-space:nowrap\">DSA<a name=\"NWGMSA-DSA\"> </a></td><td>DSA</td></tr><tr><td style=\"white-space:nowrap\">HLAAutoXM<a name=\"NWGMSA-HLAAutoXM\"> </a></td><td>HLA Auto XM</td></tr><tr><td style=\"white-space:nowrap\">HistoBlood<a name=\"NWGMSA-HistoBlood\"> </a></td><td>Blood</td></tr><tr><td style=\"white-space:nowrap\">HistoBuccal<a name=\"NWGMSA-HistoBuccal\"> </a></td><td>Buccal</td></tr><tr><td style=\"white-space:nowrap\">HistoOther<a name=\"NWGMSA-HistoOther\"> </a></td><td>Other</td></tr><tr><td style=\"white-space:nowrap\">ChimerismBloodPB<a name=\"NWGMSA-ChimerismBloodPB\"> </a></td><td>Blood (PB)</td></tr><tr><td style=\"white-space:nowrap\">ChimerismBoneMarrowBM<a name=\"NWGMSA-ChimerismBoneMarrowBM\"> </a></td><td>Bone Marrow (BM)</td></tr><tr><td style=\"white-space:nowrap\">ChimerismPeripheralBlood<a name=\"NWGMSA-ChimerismPeripheralBlood\"> </a></td><td>Chimerism Peripheral Blood</td></tr><tr><td style=\"white-space:nowrap\">ChimerismCD3<a name=\"NWGMSA-ChimerismCD3\"> </a></td><td>Chimerism CD3</td></tr><tr><td style=\"white-space:nowrap\">ChimerismCD15<a name=\"NWGMSA-ChimerismCD15\"> </a></td><td>Chimerism CD15</td></tr><tr><td style=\"white-space:nowrap\">ChimerismCD19<a name=\"NWGMSA-ChimerismCD19\"> </a></td><td>Chimerism CD19</td></tr><tr><td style=\"white-space:nowrap\">ChimerismLineageOther<a name=\"NWGMSA-ChimerismLineageOther\"> </a></td><td>Chimerism Lineage Other</td></tr><tr><td style=\"white-space:nowrap\">HRDPathwayNewlyDiagnosed<a name=\"NWGMSA-HRDPathwayNewlyDiagnosed\"> </a></td><td>HRD/tumour BRCA pathway - newly diagnosed</td></tr><tr><td style=\"white-space:nowrap\">HRDPathwayRelapsed<a name=\"NWGMSA-HRDPathwayRelapsed\"> </a></td><td>HRD/tumour BRCA pathway - relapsed</td></tr><tr><td style=\"white-space:nowrap\">NewlyDiagnosedAdvancedDiseaseConfirmation<a name=\"NWGMSA-NewlyDiagnosedAdvancedDiseaseConfirmation\"> </a></td><td>Confirmation of newly diagnosed, advanced high-grade epithelial ovarian, fallopian tube or primary peritoneal cancer</td></tr><tr><td style=\"white-space:nowrap\">RelapsedDiseaseConfirmation<a name=\"NWGMSA-RelapsedDiseaseConfirmation\"> </a></td><td>Confirmation of relapsed high-grade disease, second line of treatment or beyond</td></tr><tr><td style=\"white-space:nowrap\">NeoplasticCellContent<a name=\"NWGMSA-NeoplasticCellContent\"> </a></td><td>Neoplastic cell content (%)</td></tr><tr><td style=\"white-space:nowrap\">PathologistName<a name=\"NWGMSA-PathologistName\"> </a></td><td>Pathologist name</td></tr><tr><td style=\"white-space:nowrap\">PathologyHospital<a name=\"NWGMSA-PathologyHospital\"> </a></td><td>Pathology hospital</td></tr><tr><td style=\"white-space:nowrap\">MyriadInternationalTransferConsent<a name=\"NWGMSA-MyriadInternationalTransferConsent\"> </a></td><td>Consent for tissue, pathology report and personal details to be sent to Myriad Genetics Inc. (United States) for analysis</td></tr><tr><td style=\"white-space:nowrap\">HaemOncPanelRequested<a name=\"NWGMSA-HaemOncPanelRequested\"> </a></td><td>Haemato-Oncology test panel requested</td></tr><tr><td style=\"white-space:nowrap\">DifferentialDiagnosis<a name=\"NWGMSA-DifferentialDiagnosis\"> </a></td><td>Differential diagnosis/clinical question</td></tr><tr><td style=\"white-space:nowrap\">ClinicalUtilityPatientManagement<a name=\"NWGMSA-ClinicalUtilityPatientManagement\"> </a></td><td>Patient management (determining therapeutic decisions and/or clinical investigations and/or surveillance programme)</td></tr><tr><td style=\"white-space:nowrap\">ClinicalUtilityReproductiveDecision<a name=\"NWGMSA-ClinicalUtilityReproductiveDecision\"> </a></td><td>Patient, parents, or adult relative reproductive decision making</td></tr><tr><td style=\"white-space:nowrap\">ClinicalUtilityPredictiveTesting<a name=\"NWGMSA-ClinicalUtilityPredictiveTesting\"> </a></td><td>Unaffected relatives are seeking predictive testing</td></tr><tr><td style=\"white-space:nowrap\">TargetedFamilialVariant<a name=\"NWGMSA-TargetedFamilialVariant\"> </a></td><td>Known familial variant and affected relative details (targeted familial testing)</td></tr><tr><td style=\"white-space:nowrap\">RelativeOrPartnerStatus<a name=\"NWGMSA-RelativeOrPartnerStatus\"> </a></td><td>Status of relative/partner (affected or carrier)</td></tr><tr><td style=\"white-space:nowrap\">RelativeOrPartnerVariant<a name=\"NWGMSA-RelativeOrPartnerVariant\"> </a></td><td>Details of the relative/partner's variant, if known</td></tr><tr><td style=\"white-space:nowrap\">GeneticStatusAffected<a name=\"NWGMSA-GeneticStatusAffected\"> </a></td><td>Affected</td></tr><tr><td style=\"white-space:nowrap\">GeneticStatusCarrier<a name=\"NWGMSA-GeneticStatusCarrier\"> </a></td><td>Carrier</td></tr><tr><td style=\"white-space:nowrap\">HbA2Percent<a name=\"NWGMSA-HbA2Percent\"> </a></td><td>Hb A2 (%)</td></tr><tr><td style=\"white-space:nowrap\">HbFPercent<a name=\"NWGMSA-HbFPercent\"> </a></td><td>Hb F (%)</td></tr><tr><td style=\"white-space:nowrap\">OtherHbPercent<a name=\"NWGMSA-OtherHbPercent\"> </a></td><td>Other Hb (%)</td></tr><tr><td style=\"white-space:nowrap\">CFReferralScenario<a name=\"NWGMSA-CFReferralScenario\"> </a></td><td>CF carrier testing referral scenario</td></tr><tr><td style=\"white-space:nowrap\">CFReferralFamilyHistory<a name=\"NWGMSA-CFReferralFamilyHistory\"> </a></td><td>Family history of CF</td></tr><tr><td style=\"white-space:nowrap\">CFReferralPartner<a name=\"NWGMSA-CFReferralPartner\"> </a></td><td>Partner of a patient affected with, or a carrier of, CF</td></tr><tr><td style=\"white-space:nowrap\">WGSPathwayRareDiseaseProband<a name=\"NWGMSA-WGSPathwayRareDiseaseProband\"> </a></td><td>WGS pathway - Rare Disease, Proband</td></tr><tr><td style=\"white-space:nowrap\">WGSPathwayRareDiseaseFamilyMember<a name=\"NWGMSA-WGSPathwayRareDiseaseFamilyMember\"> </a></td><td>WGS pathway - Rare Disease, Family Member</td></tr><tr><td style=\"white-space:nowrap\">WGSPathwayCancerTumour<a name=\"NWGMSA-WGSPathwayCancerTumour\"> </a></td><td>WGS pathway - Cancer, Tumour Sample</td></tr><tr><td style=\"white-space:nowrap\">WGSPathwayCancerGermline<a name=\"NWGMSA-WGSPathwayCancerGermline\"> </a></td><td>WGS pathway - Cancer, Germline Sample</td></tr><tr><td style=\"white-space:nowrap\">VariantReviewReasonNewInformation<a name=\"NWGMSA-VariantReviewReasonNewInformation\"> </a></td><td>New information (e.g. segregation data, change in phenotype, publication)</td></tr><tr><td style=\"white-space:nowrap\">VariantReviewReasonTimeElapsed<a name=\"NWGMSA-VariantReviewReasonTimeElapsed\"> </a></td><td>Sufficient time having passed since the initial review (>2 years)</td></tr><tr><td style=\"white-space:nowrap\">VariantReviewReasonUrgent<a name=\"NWGMSA-VariantReviewReasonUrgent\"> </a></td><td>Urgent clinical scenario, e.g. prenatal diagnosis</td></tr><tr><td style=\"white-space:nowrap\">VariantReviewReasonFormalClassification<a name=\"NWGMSA-VariantReviewReasonFormalClassification\"> </a></td><td>Variant requiring formal classification, using ACGS guidelines, where none exists</td></tr><tr><td style=\"white-space:nowrap\">ReportReference<a name=\"NWGMSA-ReportReference\"> </a></td><td>Prior report reference</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromePendred<a name=\"NWGMSA-DeafnessSyndromePendred\"> </a></td><td>Pendred syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromeUsher<a name=\"NWGMSA-DeafnessSyndromeUsher\"> </a></td><td>Usher syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromeJervellLangeNielsen<a name=\"NWGMSA-DeafnessSyndromeJervellLangeNielsen\"> </a></td><td>Jervell-Lange Nielsen syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromeWaardenburg<a name=\"NWGMSA-DeafnessSyndromeWaardenburg\"> </a></td><td>Waardenburg syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromeBranchioOtoRenal<a name=\"NWGMSA-DeafnessSyndromeBranchioOtoRenal\"> </a></td><td>Branchio-oto-renal syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessSyndromeWolfram<a name=\"NWGMSA-DeafnessSyndromeWolfram\"> </a></td><td>Wolfram syndrome</td></tr><tr><td style=\"white-space:nowrap\">DeafnessRiskFactorPrematurity<a name=\"NWGMSA-DeafnessRiskFactorPrematurity\"> </a></td><td>Prematurity</td></tr><tr><td style=\"white-space:nowrap\">DeafnessRiskFactorHyperbilirubinemia<a name=\"NWGMSA-DeafnessRiskFactorHyperbilirubinemia\"> </a></td><td>Hyperbilirubinemia</td></tr><tr><td style=\"white-space:nowrap\">DeafnessRiskFactorProlongedNNUStay<a name=\"NWGMSA-DeafnessRiskFactorProlongedNNUStay\"> </a></td><td>Prolonged neonatal care unit stay</td></tr><tr><td style=\"white-space:nowrap\">DeafnessRiskFactorOtotoxicMedication<a name=\"NWGMSA-DeafnessRiskFactorOtotoxicMedication\"> </a></td><td>Ototoxic medication</td></tr><tr><td style=\"white-space:nowrap\">AudiogramSeverityRight<a name=\"NWGMSA-AudiogramSeverityRight\"> </a></td><td>Audiogram severity - right ear</td></tr><tr><td style=\"white-space:nowrap\">AudiogramSeverityLeft<a name=\"NWGMSA-AudiogramSeverityLeft\"> </a></td><td>Audiogram severity - left ear</td></tr><tr><td style=\"white-space:nowrap\">AudiogramProgression<a name=\"NWGMSA-AudiogramProgression\"> </a></td><td>Audiogram progression</td></tr><tr><td style=\"white-space:nowrap\">NHSPatient<a name=\"NWGMSA-NHSPatient\"> </a></td><td>NHS patient</td></tr><tr><td style=\"white-space:nowrap\">PrivatePatient<a name=\"NWGMSA-PrivatePatient\"> </a></td><td>Private patient</td></tr><tr><td style=\"white-space:nowrap\">ReportMethodEmail<a name=\"NWGMSA-ReportMethodEmail\"> </a></td><td>Email</td></tr><tr><td style=\"white-space:nowrap\">ReportMethodFax<a name=\"NWGMSA-ReportMethodFax\"> </a></td><td>Fax</td></tr><tr><td style=\"white-space:nowrap\">ReasonNHSNumberNotAvailable<a name=\"NWGMSA-ReasonNHSNumberNotAvailable\"> </a></td><td>Reason NHS Number not available</td></tr><tr><td style=\"white-space:nowrap\">FamilyTestType<a name=\"NWGMSA-FamilyTestType\"> </a></td><td>Family test type (Singleton/Trio/Other)</td></tr><tr><td style=\"white-space:nowrap\">FamilyTestSingleton<a name=\"NWGMSA-FamilyTestSingleton\"> </a></td><td>Singleton</td></tr><tr><td style=\"white-space:nowrap\">FamilyTestTrio<a name=\"NWGMSA-FamilyTestTrio\"> </a></td><td>Trio</td></tr><tr><td style=\"white-space:nowrap\">FamilyTestOther<a name=\"NWGMSA-FamilyTestOther\"> </a></td><td>Other</td></tr><tr><td style=\"white-space:nowrap\">FamilyMemberStatus<a name=\"NWGMSA-FamilyMemberStatus\"> </a></td><td>Family member status (form field purpose unconfirmed)</td></tr><tr><td style=\"white-space:nowrap\">UrgencyReason<a name=\"NWGMSA-UrgencyReason\"> </a></td><td>Reason for urgency (Clinical Priority)</td></tr><tr><td style=\"white-space:nowrap\">AdditionalPanels<a name=\"NWGMSA-AdditionalPanels\"> </a></td><td>Additional gene panel(s) (Genomics England PanelApp, GMS Rare Disease Virtual)</td></tr><tr><td style=\"white-space:nowrap\">ProbandAgeAtOnset<a name=\"NWGMSA-ProbandAgeAtOnset\"> </a></td><td>Proband's age at onset of clinical features</td></tr><tr><td style=\"white-space:nowrap\">SpecificRareDiseaseSuspected<a name=\"NWGMSA-SpecificRareDiseaseSuspected\"> </a></td><td>Specific rare disease suspected or confirmed</td></tr><tr><td style=\"white-space:nowrap\">HPOTerm<a name=\"NWGMSA-HPOTerm\"> </a></td><td>HPO (Human Phenotype Ontology) term</td></tr><tr><td style=\"white-space:nowrap\">MainContact<a name=\"NWGMSA-MainContact\"> </a></td><td>Main contact (if different from responsible clinician/consultant)</td></tr><tr><td style=\"white-space:nowrap\">PresentationStatus<a name=\"NWGMSA-PresentationStatus\"> </a></td><td>Presentation status (First diagnosis/Recurrence/Relapse/Unknown)</td></tr><tr><td style=\"white-space:nowrap\">PresentationFirstDiagnosis<a name=\"NWGMSA-PresentationFirstDiagnosis\"> </a></td><td>First diagnosis</td></tr><tr><td style=\"white-space:nowrap\">PresentationRecurrenceRelapse<a name=\"NWGMSA-PresentationRecurrenceRelapse\"> </a></td><td>Recurrence/Relapse</td></tr><tr><td style=\"white-space:nowrap\">TumourPresentationType<a name=\"NWGMSA-TumourPresentationType\"> </a></td><td>Tumour presentation type (Primary/Metastatic/Unknown/Lymphoma)</td></tr><tr><td style=\"white-space:nowrap\">TumourPresentationPrimary<a name=\"NWGMSA-TumourPresentationPrimary\"> </a></td><td>Primary</td></tr><tr><td style=\"white-space:nowrap\">TumourPresentationMetastatic<a name=\"NWGMSA-TumourPresentationMetastatic\"> </a></td><td>Metastatic</td></tr><tr><td style=\"white-space:nowrap\">TumourPresentationLymphoma<a name=\"NWGMSA-TumourPresentationLymphoma\"> </a></td><td>Lymphoma</td></tr><tr><td style=\"white-space:nowrap\">HistopathologyLabID<a name=\"NWGMSA-HistopathologyLabID\"> </a></td><td>Histopathology Lab ID</td></tr><tr><td style=\"white-space:nowrap\">SIHMDSLabID<a name=\"NWGMSA-SIHMDSLabID\"> </a></td><td>SIHMDS Lab ID</td></tr><tr><td style=\"white-space:nowrap\">HaematoOncologyLiquidTumourType<a name=\"NWGMSA-HaematoOncologyLiquidTumourType\"> </a></td><td>Haemato-oncology liquid tumour type (AML/ALL/Other)</td></tr><tr><td style=\"white-space:nowrap\">NucleatedCellCount<a name=\"NWGMSA-NucleatedCellCount\"> </a></td><td>Nucleated cell count (bone marrow/peripheral blood sample)</td></tr><tr><td style=\"white-space:nowrap\">FamilyMemberPotentialDonor<a name=\"NWGMSA-FamilyMemberPotentialDonor\"> </a></td><td>Family Member / Potential Donor</td></tr><tr><td style=\"white-space:nowrap\">CMVPositive<a name=\"NWGMSA-CMVPositive\"> </a></td><td>Positive</td></tr><tr><td style=\"white-space:nowrap\">CMVNegative<a name=\"NWGMSA-CMVNegative\"> </a></td><td>Negative</td></tr><tr><td style=\"white-space:nowrap\">CMVDontKnow<a name=\"NWGMSA-CMVDontKnow\"> </a></td><td>Don't know</td></tr><tr><td style=\"white-space:nowrap\">HLAClassITyping<a name=\"NWGMSA-HLAClassITyping\"> </a></td><td>HLA Class I type</td></tr><tr><td style=\"white-space:nowrap\">HLAClassIAndIITyping<a name=\"NWGMSA-HLAClassIAndIITyping\"> </a></td><td>HLA Class I and Class II type</td></tr><tr><td style=\"white-space:nowrap\">ChimerismTotalWholeBlood<a name=\"NWGMSA-ChimerismTotalWholeBlood\"> </a></td><td>Total / Whole Blood</td></tr><tr><td style=\"white-space:nowrap\">ChimerismLineageSpecificHSCT<a name=\"NWGMSA-ChimerismLineageSpecificHSCT\"> </a></td><td>Lineage specific</td></tr><tr><td style=\"white-space:nowrap\">CategoryPatientRenal<a name=\"NWGMSA-CategoryPatientRenal\"> </a></td><td>Patient - Renal</td></tr><tr><td style=\"white-space:nowrap\">CategoryPatientNonRenal<a name=\"NWGMSA-CategoryPatientNonRenal\"> </a></td><td>Patient - Non-Renal</td></tr><tr><td style=\"white-space:nowrap\">CategoryDonor<a name=\"NWGMSA-CategoryDonor\"> </a></td><td>Donor</td></tr><tr><td style=\"white-space:nowrap\">RenalPreDialysis<a name=\"NWGMSA-RenalPreDialysis\"> </a></td><td>Pre-dialysis</td></tr><tr><td style=\"white-space:nowrap\">RenalCAPD<a name=\"NWGMSA-RenalCAPD\"> </a></td><td>CAPD</td></tr><tr><td style=\"white-space:nowrap\">RenalHaemodialysis<a name=\"NWGMSA-RenalHaemodialysis\"> </a></td><td>Haemodialysis</td></tr><tr><td style=\"white-space:nowrap\">RenalPostTransplant<a name=\"NWGMSA-RenalPostTransplant\"> </a></td><td>Post transplant</td></tr><tr><td style=\"white-space:nowrap\">NonRenalCardiothoracic<a name=\"NWGMSA-NonRenalCardiothoracic\"> </a></td><td>Cardiothoracic</td></tr><tr><td style=\"white-space:nowrap\">NonRenalLiverSmallBowel<a name=\"NWGMSA-NonRenalLiverSmallBowel\"> </a></td><td>Liver/small bowel</td></tr><tr><td style=\"white-space:nowrap\">NonRenalCornea<a name=\"NWGMSA-NonRenalCornea\"> </a></td><td>Cornea</td></tr><tr><td style=\"white-space:nowrap\">NonRenalOther<a name=\"NWGMSA-NonRenalOther\"> </a></td><td>Other</td></tr><tr><td style=\"white-space:nowrap\">DonorPreTransplant<a name=\"NWGMSA-DonorPreTransplant\"> </a></td><td>Pre transplant</td></tr><tr><td style=\"white-space:nowrap\">DonorPostTransplant<a name=\"NWGMSA-DonorPostTransplant\"> </a></td><td>Post transplant</td></tr><tr><td style=\"white-space:nowrap\">DonorLiveDonor<a name=\"NWGMSA-DonorLiveDonor\"> </a></td><td>Live donor</td></tr><tr><td style=\"white-space:nowrap\">DonorAltruisticDonor<a name=\"NWGMSA-DonorAltruisticDonor\"> </a></td><td>Altruistic donor</td></tr><tr><td style=\"white-space:nowrap\">OrganHLAType<a name=\"NWGMSA-OrganHLAType\"> </a></td><td>HLA type</td></tr><tr><td style=\"white-space:nowrap\">OrganHLASpecificAntibodies<a name=\"NWGMSA-OrganHLASpecificAntibodies\"> </a></td><td>HLA specific antibodies</td></tr><tr><td style=\"white-space:nowrap\">OrganLiveDonorCrossmatch<a name=\"NWGMSA-OrganLiveDonorCrossmatch\"> </a></td><td>Live donor crossmatch</td></tr><tr><td style=\"white-space:nowrap\">OrganAutoCrossmatch<a name=\"NWGMSA-OrganAutoCrossmatch\"> </a></td><td>Auto crossmatch</td></tr><tr><td style=\"white-space:nowrap\">WGSParticipantTypeProband<a name=\"NWGMSA-WGSParticipantTypeProband\"> </a></td><td>Proband</td></tr><tr><td style=\"white-space:nowrap\">WGSParticipantTypeFamilyMember<a name=\"NWGMSA-WGSParticipantTypeFamilyMember\"> </a></td><td>Family Member</td></tr></table></div>"
},
"url" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"version" : "2.2.0",
"name" : "NWGMSA",
"title" : "NW GMSA Codes",
"status" : "active",
"experimental" : false,
"date" : "2025-05-06",
"publisher" : "NHS North West Genomics",
"contact" : [
{
"telecom" : [
{
"system" : "url",
"value" : "https://www.nwgenomics.nhs.uk/contact-us"
}
]
}
],
"description" : "Bucket for local codes",
"jurisdiction" : [
{
"coding" : [
{
"system" : "urn:iso:std:iso:3166",
"code" : "GB",
"display" : "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"caseSensitive" : true,
"content" : "complete",
"count" : 163,
"concept" : [
{
"code" : "SouthEastAsian",
"display" : "South East Asian"
},
{
"code" : "NorthernEuropean",
"display" : "Northern European"
},
{
"code" : "JewishNOS",
"display" : "Jewish NOS"
},
{
"code" : "IrishTraveller",
"display" : "Gypsy/Traveller/ Irish Traveller"
},
{
"code" : "Traveller",
"display" : "Gypsy/Traveller"
},
{
"code" : "Roma",
"display" : "Roma"
},
{
"code" : "AshkenaziJew",
"display" : "Ashkenazi Jew, follower of religion (person)"
},
{
"code" : "RareAndInheritedDiseasesGeneticTesting",
"display" : "Rare and inherited diseases Genetic Testing (procedure)"
},
{
"code" : "PreNatalGeneticTesting",
"display" : "Pre Natal Genetic Testing (procedure)"
},
{
"code" : "HaemoglobinopathyGeneticTesting",
"display" : "Haemoglobinopathy Genetic Testing (procedure)"
},
{
"code" : "CancerGeneticTesting",
"display" : "Cancer Genetic Testing (procedure)"
},
{
"code" : "GeneticistEmail",
"display" : "Clinical Geneticist email"
},
{
"code" : "GeneticistDepartmentEmail",
"display" : "Clinical Geneticist department email"
},
{
"code" : "RODToFollow",
"display" : "ROD attached or to follow"
},
{
"code" : "InfectionRiskDetails",
"display" : "High infection Risk Details"
},
{
"code" : "VariantReinterpretationReason",
"display" : "Reason For Variant Re-Interpretation Request"
},
{
"code" : "SampleSent",
"display" : "Date and time sample sent"
},
{
"code" : "TransportUsed",
"display" : "Transport used"
},
{
"code" : "SampleSentTo",
"display" : "Sample sent to"
},
{
"code" : "SampleSentToName",
"display" : "Name of person who sent sample"
},
{
"code" : "TESTOUTCOME",
"display" : "NHS England Genomics Test Outcome"
},
{
"code" : "FamilyStructure",
"display" : "Family Structure"
},
{
"code" : "ParticipantType",
"display" : "Participant Type"
},
{
"code" : "RelatedIndividualRole",
"display" : "Related Individual Role"
},
{
"code" : "RoleConsultand",
"display" : "Consultand"
},
{
"code" : "RoleProband",
"display" : "Proband"
},
{
"code" : "230056",
"display" : "What Type of Referral Do You Require?"
},
{
"code" : "230016",
"display" : "Test Type"
},
{
"code" : "231284",
"display" : "Please Select R240 Test(s):"
},
{
"code" : "231285",
"display" : "Please Select R242 Test(s):"
},
{
"code" : "230027",
"display" : "Email Addresses of Non-MFT Clinicians for Result Reports"
},
{
"code" : "230037",
"display" : "Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing"
},
{
"code" : "230039",
"display" : "Is the Person Ordering the Test the Referring Clinician"
},
{
"code" : "GENEAP",
"display" : "GENETICS TEST PERFORMABLE"
},
{
"code" : "unknown",
"display" : "Unknown"
},
{
"code" : "ZCID",
"display" : "Container Identifier"
},
{
"code" : "Patient",
"display" : "Patient"
},
{
"code" : "Donor",
"display" : "Donor"
},
{
"code" : "StemCell",
"display" : "Stem cell"
},
{
"code" : "Renal",
"display" : "Renal"
},
{
"code" : "Thoracic",
"display" : "Thoracic"
},
{
"code" : "Kidney",
"display" : "Kidney"
},
{
"code" : "Pancreas",
"display" : "Pancreas"
},
{
"code" : "Islets",
"display" : "Islets"
},
{
"code" : "SimultaneousPancreasKidney",
"display" : "Simultaneous Pancreas/Kidney"
},
{
"code" : "SimultaneousIsletKidney",
"display" : "Simultaneous Islet/Kidney"
},
{
"code" : "HLATypingAntibodyScreening",
"display" : "HLA Typing + Antibody Screening"
},
{
"code" : "HLAAntibodyScreening",
"display" : "HLA Antibody Screening"
},
{
"code" : "HLATypeRecipient",
"display" : "HLA Type Recipient"
},
{
"code" : "DSA",
"display" : "DSA"
},
{
"code" : "HLAAutoXM",
"display" : "HLA Auto XM"
},
{
"code" : "HistoBlood",
"display" : "Blood"
},
{
"code" : "HistoBuccal",
"display" : "Buccal"
},
{
"code" : "HistoOther",
"display" : "Other"
},
{
"code" : "ChimerismBloodPB",
"display" : "Blood (PB)"
},
{
"code" : "ChimerismBoneMarrowBM",
"display" : "Bone Marrow (BM)"
},
{
"code" : "ChimerismPeripheralBlood",
"display" : "Chimerism Peripheral Blood"
},
{
"code" : "ChimerismCD3",
"display" : "Chimerism CD3"
},
{
"code" : "ChimerismCD15",
"display" : "Chimerism CD15"
},
{
"code" : "ChimerismCD19",
"display" : "Chimerism CD19"
},
{
"code" : "ChimerismLineageOther",
"display" : "Chimerism Lineage Other"
},
{
"code" : "HRDPathwayNewlyDiagnosed",
"display" : "HRD/tumour BRCA pathway - newly diagnosed"
},
{
"code" : "HRDPathwayRelapsed",
"display" : "HRD/tumour BRCA pathway - relapsed"
},
{
"code" : "NewlyDiagnosedAdvancedDiseaseConfirmation",
"display" : "Confirmation of newly diagnosed, advanced high-grade epithelial ovarian, fallopian tube or primary peritoneal cancer"
},
{
"code" : "RelapsedDiseaseConfirmation",
"display" : "Confirmation of relapsed high-grade disease, second line of treatment or beyond"
},
{
"code" : "NeoplasticCellContent",
"display" : "Neoplastic cell content (%)"
},
{
"code" : "PathologistName",
"display" : "Pathologist name"
},
{
"code" : "PathologyHospital",
"display" : "Pathology hospital"
},
{
"code" : "MyriadInternationalTransferConsent",
"display" : "Consent for tissue, pathology report and personal details to be sent to Myriad Genetics Inc. (United States) for analysis"
},
{
"code" : "HaemOncPanelRequested",
"display" : "Haemato-Oncology test panel requested"
},
{
"code" : "DifferentialDiagnosis",
"display" : "Differential diagnosis/clinical question"
},
{
"code" : "ClinicalUtilityPatientManagement",
"display" : "Patient management (determining therapeutic decisions and/or clinical investigations and/or surveillance programme)"
},
{
"code" : "ClinicalUtilityReproductiveDecision",
"display" : "Patient, parents, or adult relative reproductive decision making"
},
{
"code" : "ClinicalUtilityPredictiveTesting",
"display" : "Unaffected relatives are seeking predictive testing"
},
{
"code" : "TargetedFamilialVariant",
"display" : "Known familial variant and affected relative details (targeted familial testing)"
},
{
"code" : "RelativeOrPartnerStatus",
"display" : "Status of relative/partner (affected or carrier)"
},
{
"code" : "RelativeOrPartnerVariant",
"display" : "Details of the relative/partner's variant, if known"
},
{
"code" : "GeneticStatusAffected",
"display" : "Affected"
},
{
"code" : "GeneticStatusCarrier",
"display" : "Carrier"
},
{
"code" : "HbA2Percent",
"display" : "Hb A2 (%)"
},
{
"code" : "HbFPercent",
"display" : "Hb F (%)"
},
{
"code" : "OtherHbPercent",
"display" : "Other Hb (%)"
},
{
"code" : "CFReferralScenario",
"display" : "CF carrier testing referral scenario"
},
{
"code" : "CFReferralFamilyHistory",
"display" : "Family history of CF"
},
{
"code" : "CFReferralPartner",
"display" : "Partner of a patient affected with, or a carrier of, CF"
},
{
"code" : "WGSPathwayRareDiseaseProband",
"display" : "WGS pathway - Rare Disease, Proband"
},
{
"code" : "WGSPathwayRareDiseaseFamilyMember",
"display" : "WGS pathway - Rare Disease, Family Member"
},
{
"code" : "WGSPathwayCancerTumour",
"display" : "WGS pathway - Cancer, Tumour Sample"
},
{
"code" : "WGSPathwayCancerGermline",
"display" : "WGS pathway - Cancer, Germline Sample"
},
{
"code" : "VariantReviewReasonNewInformation",
"display" : "New information (e.g. segregation data, change in phenotype, publication)"
},
{
"code" : "VariantReviewReasonTimeElapsed",
"display" : "Sufficient time having passed since the initial review (>2 years)"
},
{
"code" : "VariantReviewReasonUrgent",
"display" : "Urgent clinical scenario, e.g. prenatal diagnosis"
},
{
"code" : "VariantReviewReasonFormalClassification",
"display" : "Variant requiring formal classification, using ACGS guidelines, where none exists"
},
{
"code" : "ReportReference",
"display" : "Prior report reference"
},
{
"code" : "DeafnessSyndromePendred",
"display" : "Pendred syndrome"
},
{
"code" : "DeafnessSyndromeUsher",
"display" : "Usher syndrome"
},
{
"code" : "DeafnessSyndromeJervellLangeNielsen",
"display" : "Jervell-Lange Nielsen syndrome"
},
{
"code" : "DeafnessSyndromeWaardenburg",
"display" : "Waardenburg syndrome"
},
{
"code" : "DeafnessSyndromeBranchioOtoRenal",
"display" : "Branchio-oto-renal syndrome"
},
{
"code" : "DeafnessSyndromeWolfram",
"display" : "Wolfram syndrome"
},
{
"code" : "DeafnessRiskFactorPrematurity",
"display" : "Prematurity"
},
{
"code" : "DeafnessRiskFactorHyperbilirubinemia",
"display" : "Hyperbilirubinemia"
},
{
"code" : "DeafnessRiskFactorProlongedNNUStay",
"display" : "Prolonged neonatal care unit stay"
},
{
"code" : "DeafnessRiskFactorOtotoxicMedication",
"display" : "Ototoxic medication"
},
{
"code" : "AudiogramSeverityRight",
"display" : "Audiogram severity - right ear"
},
{
"code" : "AudiogramSeverityLeft",
"display" : "Audiogram severity - left ear"
},
{
"code" : "AudiogramProgression",
"display" : "Audiogram progression"
},
{
"code" : "NHSPatient",
"display" : "NHS patient"
},
{
"code" : "PrivatePatient",
"display" : "Private patient"
},
{
"code" : "ReportMethodEmail",
"display" : "Email"
},
{
"code" : "ReportMethodFax",
"display" : "Fax"
},
{
"code" : "ReasonNHSNumberNotAvailable",
"display" : "Reason NHS Number not available"
},
{
"code" : "FamilyTestType",
"display" : "Family test type (Singleton/Trio/Other)"
},
{
"code" : "FamilyTestSingleton",
"display" : "Singleton"
},
{
"code" : "FamilyTestTrio",
"display" : "Trio"
},
{
"code" : "FamilyTestOther",
"display" : "Other"
},
{
"code" : "FamilyMemberStatus",
"display" : "Family member status (form field purpose unconfirmed)"
},
{
"code" : "UrgencyReason",
"display" : "Reason for urgency (Clinical Priority)"
},
{
"code" : "AdditionalPanels",
"display" : "Additional gene panel(s) (Genomics England PanelApp, GMS Rare Disease Virtual)"
},
{
"code" : "ProbandAgeAtOnset",
"display" : "Proband's age at onset of clinical features"
},
{
"code" : "SpecificRareDiseaseSuspected",
"display" : "Specific rare disease suspected or confirmed"
},
{
"code" : "HPOTerm",
"display" : "HPO (Human Phenotype Ontology) term"
},
{
"code" : "MainContact",
"display" : "Main contact (if different from responsible clinician/consultant)"
},
{
"code" : "PresentationStatus",
"display" : "Presentation status (First diagnosis/Recurrence/Relapse/Unknown)"
},
{
"code" : "PresentationFirstDiagnosis",
"display" : "First diagnosis"
},
{
"code" : "PresentationRecurrenceRelapse",
"display" : "Recurrence/Relapse"
},
{
"code" : "TumourPresentationType",
"display" : "Tumour presentation type (Primary/Metastatic/Unknown/Lymphoma)"
},
{
"code" : "TumourPresentationPrimary",
"display" : "Primary"
},
{
"code" : "TumourPresentationMetastatic",
"display" : "Metastatic"
},
{
"code" : "TumourPresentationLymphoma",
"display" : "Lymphoma"
},
{
"code" : "HistopathologyLabID",
"display" : "Histopathology Lab ID"
},
{
"code" : "SIHMDSLabID",
"display" : "SIHMDS Lab ID"
},
{
"code" : "HaematoOncologyLiquidTumourType",
"display" : "Haemato-oncology liquid tumour type (AML/ALL/Other)"
},
{
"code" : "NucleatedCellCount",
"display" : "Nucleated cell count (bone marrow/peripheral blood sample)"
},
{
"code" : "FamilyMemberPotentialDonor",
"display" : "Family Member / Potential Donor"
},
{
"code" : "CMVPositive",
"display" : "Positive"
},
{
"code" : "CMVNegative",
"display" : "Negative"
},
{
"code" : "CMVDontKnow",
"display" : "Don't know"
},
{
"code" : "HLAClassITyping",
"display" : "HLA Class I type"
},
{
"code" : "HLAClassIAndIITyping",
"display" : "HLA Class I and Class II type"
},
{
"code" : "ChimerismTotalWholeBlood",
"display" : "Total / Whole Blood"
},
{
"code" : "ChimerismLineageSpecificHSCT",
"display" : "Lineage specific"
},
{
"code" : "CategoryPatientRenal",
"display" : "Patient - Renal"
},
{
"code" : "CategoryPatientNonRenal",
"display" : "Patient - Non-Renal"
},
{
"code" : "CategoryDonor",
"display" : "Donor"
},
{
"code" : "RenalPreDialysis",
"display" : "Pre-dialysis"
},
{
"code" : "RenalCAPD",
"display" : "CAPD"
},
{
"code" : "RenalHaemodialysis",
"display" : "Haemodialysis"
},
{
"code" : "RenalPostTransplant",
"display" : "Post transplant"
},
{
"code" : "NonRenalCardiothoracic",
"display" : "Cardiothoracic"
},
{
"code" : "NonRenalLiverSmallBowel",
"display" : "Liver/small bowel"
},
{
"code" : "NonRenalCornea",
"display" : "Cornea"
},
{
"code" : "NonRenalOther",
"display" : "Other"
},
{
"code" : "DonorPreTransplant",
"display" : "Pre transplant"
},
{
"code" : "DonorPostTransplant",
"display" : "Post transplant"
},
{
"code" : "DonorLiveDonor",
"display" : "Live donor"
},
{
"code" : "DonorAltruisticDonor",
"display" : "Altruistic donor"
},
{
"code" : "OrganHLAType",
"display" : "HLA type"
},
{
"code" : "OrganHLASpecificAntibodies",
"display" : "HLA specific antibodies"
},
{
"code" : "OrganLiveDonorCrossmatch",
"display" : "Live donor crossmatch"
},
{
"code" : "OrganAutoCrossmatch",
"display" : "Auto crossmatch"
},
{
"code" : "WGSParticipantTypeProband",
"display" : "Proband"
},
{
"code" : "WGSParticipantTypeFamilyMember",
"display" : "Family Member"
}
]
}