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 |
<CodeSystem xmlns="http://hl7.org/fhir">
<id value="NWGMSA"/>
<language value="en"/>
<text>
<status value="generated"/>
<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>
</text>
<url value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/>
<version value="2.2.0"/>
<name value="NWGMSA"/>
<title value="NW GMSA Codes"/>
<status value="active"/>
<experimental value="false"/>
<date value="2025-05-06"/>
<publisher value="NHS North West Genomics"/>
<contact>
<telecom>
<system value="url"/>
<value value="https://www.nwgenomics.nhs.uk/contact-us"/>
</telecom>
</contact>
<description value="Bucket for local codes"/>
<jurisdiction>
<coding>
<system value="urn:iso:std:iso:3166"/>
<code value="GB"/>
<display value="United Kingdom of Great Britain and Northern Ireland"/>
</coding>
</jurisdiction>
<caseSensitive value="true"/>
<content value="complete"/>
<count value="163"/>
<concept>
<code value="SouthEastAsian"/>
<display value="South East Asian"/>
</concept>
<concept>
<code value="NorthernEuropean"/>
<display value="Northern European"/>
</concept>
<concept>
<code value="JewishNOS"/>
<display value="Jewish NOS"/>
</concept>
<concept>
<code value="IrishTraveller"/>
<display value="Gypsy/Traveller/ Irish Traveller"/>
</concept>
<concept>
<code value="Traveller"/>
<display value="Gypsy/Traveller"/>
</concept>
<concept>
<code value="Roma"/>
<display value="Roma"/>
</concept>
<concept>
<code value="AshkenaziJew"/>
<display value="Ashkenazi Jew, follower of religion (person)"/>
</concept>
<concept>
<code value="RareAndInheritedDiseasesGeneticTesting"/>
<display value="Rare and inherited diseases Genetic Testing (procedure)"/>
</concept>
<concept>
<code value="PreNatalGeneticTesting"/>
<display value="Pre Natal Genetic Testing (procedure)"/>
</concept>
<concept>
<code value="HaemoglobinopathyGeneticTesting"/>
<display value="Haemoglobinopathy Genetic Testing (procedure)"/>
</concept>
<concept>
<code value="CancerGeneticTesting"/>
<display value="Cancer Genetic Testing (procedure)"/>
</concept>
<concept>
<code value="GeneticistEmail"/>
<display value="Clinical Geneticist email"/>
</concept>
<concept>
<code value="GeneticistDepartmentEmail"/>
<display value="Clinical Geneticist department email"/>
</concept>
<concept>
<code value="RODToFollow"/>
<display value="ROD attached or to follow"/>
</concept>
<concept>
<code value="InfectionRiskDetails"/>
<display value="High infection Risk Details"/>
</concept>
<concept>
<code value="VariantReinterpretationReason"/>
<display value="Reason For Variant Re-Interpretation Request"/>
</concept>
<concept>
<code value="SampleSent"/>
<display value="Date and time sample sent"/>
</concept>
<concept>
<code value="TransportUsed"/>
<display value="Transport used"/>
</concept>
<concept>
<code value="SampleSentTo"/>
<display value="Sample sent to"/>
</concept>
<concept>
<code value="SampleSentToName"/>
<display value="Name of person who sent sample"/>
</concept>
<concept>
<code value="TESTOUTCOME"/>
<display value="NHS England Genomics Test Outcome"/>
</concept>
<concept>
<code value="FamilyStructure"/>
<display value="Family Structure"/>
</concept>
<concept>
<code value="ParticipantType"/>
<display value="Participant Type"/>
</concept>
<concept>
<code value="RelatedIndividualRole"/>
<display value="Related Individual Role"/>
</concept>
<concept>
<code value="RoleConsultand"/>
<display value="Consultand"/>
</concept>
<concept>
<code value="RoleProband"/>
<display value="Proband"/>
</concept>
<concept>
<code value="230056"/>
<display value="What Type of Referral Do You Require?"/>
</concept>
<concept>
<code value="230016"/>
<display value="Test Type"/>
</concept>
<concept>
<code value="231284"/>
<display value="Please Select R240 Test(s):"/>
</concept>
<concept>
<code value="231285"/>
<display value="Please Select R242 Test(s):"/>
</concept>
<concept>
<code value="230027"/>
<display
value="Email Addresses of Non-MFT Clinicians for Result Reports"/>
</concept>
<concept>
<code value="230037"/>
<display
value="Please Acknowledge That a DNA Sample Will be Stored in the Laboratory on Completion of Testing"/>
</concept>
<concept>
<code value="230039"/>
<display value="Is the Person Ordering the Test the Referring Clinician"/>
</concept>
<concept>
<code value="GENEAP"/>
<display value="GENETICS TEST PERFORMABLE"/>
</concept>
<concept>
<code value="unknown"/>
<display value="Unknown"/>
</concept>
<concept>
<code value="ZCID"/>
<display value="Container Identifier"/>
</concept>
<concept>
<code value="Patient"/>
<display value="Patient"/>
</concept>
<concept>
<code value="Donor"/>
<display value="Donor"/>
</concept>
<concept>
<code value="StemCell"/>
<display value="Stem cell"/>
</concept>
<concept>
<code value="Renal"/>
<display value="Renal"/>
</concept>
<concept>
<code value="Thoracic"/>
<display value="Thoracic"/>
</concept>
<concept>
<code value="Kidney"/>
<display value="Kidney"/>
</concept>
<concept>
<code value="Pancreas"/>
<display value="Pancreas"/>
</concept>
<concept>
<code value="Islets"/>
<display value="Islets"/>
</concept>
<concept>
<code value="SimultaneousPancreasKidney"/>
<display value="Simultaneous Pancreas/Kidney"/>
</concept>
<concept>
<code value="SimultaneousIsletKidney"/>
<display value="Simultaneous Islet/Kidney"/>
</concept>
<concept>
<code value="HLATypingAntibodyScreening"/>
<display value="HLA Typing + Antibody Screening"/>
</concept>
<concept>
<code value="HLAAntibodyScreening"/>
<display value="HLA Antibody Screening"/>
</concept>
<concept>
<code value="HLATypeRecipient"/>
<display value="HLA Type Recipient"/>
</concept>
<concept>
<code value="DSA"/>
<display value="DSA"/>
</concept>
<concept>
<code value="HLAAutoXM"/>
<display value="HLA Auto XM"/>
</concept>
<concept>
<code value="HistoBlood"/>
<display value="Blood"/>
</concept>
<concept>
<code value="HistoBuccal"/>
<display value="Buccal"/>
</concept>
<concept>
<code value="HistoOther"/>
<display value="Other"/>
</concept>
<concept>
<code value="ChimerismBloodPB"/>
<display value="Blood (PB)"/>
</concept>
<concept>
<code value="ChimerismBoneMarrowBM"/>
<display value="Bone Marrow (BM)"/>
</concept>
<concept>
<code value="ChimerismPeripheralBlood"/>
<display value="Chimerism Peripheral Blood"/>
</concept>
<concept>
<code value="ChimerismCD3"/>
<display value="Chimerism CD3"/>
</concept>
<concept>
<code value="ChimerismCD15"/>
<display value="Chimerism CD15"/>
</concept>
<concept>
<code value="ChimerismCD19"/>
<display value="Chimerism CD19"/>
</concept>
<concept>
<code value="ChimerismLineageOther"/>
<display value="Chimerism Lineage Other"/>
</concept>
<concept>
<code value="HRDPathwayNewlyDiagnosed"/>
<display value="HRD/tumour BRCA pathway - newly diagnosed"/>
</concept>
<concept>
<code value="HRDPathwayRelapsed"/>
<display value="HRD/tumour BRCA pathway - relapsed"/>
</concept>
<concept>
<code value="NewlyDiagnosedAdvancedDiseaseConfirmation"/>
<display
value="Confirmation of newly diagnosed, advanced high-grade epithelial ovarian, fallopian tube or primary peritoneal cancer"/>
</concept>
<concept>
<code value="RelapsedDiseaseConfirmation"/>
<display
value="Confirmation of relapsed high-grade disease, second line of treatment or beyond"/>
</concept>
<concept>
<code value="NeoplasticCellContent"/>
<display value="Neoplastic cell content (%)"/>
</concept>
<concept>
<code value="PathologistName"/>
<display value="Pathologist name"/>
</concept>
<concept>
<code value="PathologyHospital"/>
<display value="Pathology hospital"/>
</concept>
<concept>
<code value="MyriadInternationalTransferConsent"/>
<display
value="Consent for tissue, pathology report and personal details to be sent to Myriad Genetics Inc. (United States) for analysis"/>
</concept>
<concept>
<code value="HaemOncPanelRequested"/>
<display value="Haemato-Oncology test panel requested"/>
</concept>
<concept>
<code value="DifferentialDiagnosis"/>
<display value="Differential diagnosis/clinical question"/>
</concept>
<concept>
<code value="ClinicalUtilityPatientManagement"/>
<display
value="Patient management (determining therapeutic decisions and/or clinical investigations and/or surveillance programme)"/>
</concept>
<concept>
<code value="ClinicalUtilityReproductiveDecision"/>
<display
value="Patient, parents, or adult relative reproductive decision making"/>
</concept>
<concept>
<code value="ClinicalUtilityPredictiveTesting"/>
<display value="Unaffected relatives are seeking predictive testing"/>
</concept>
<concept>
<code value="TargetedFamilialVariant"/>
<display
value="Known familial variant and affected relative details (targeted familial testing)"/>
</concept>
<concept>
<code value="RelativeOrPartnerStatus"/>
<display value="Status of relative/partner (affected or carrier)"/>
</concept>
<concept>
<code value="RelativeOrPartnerVariant"/>
<display value="Details of the relative/partner's variant, if known"/>
</concept>
<concept>
<code value="GeneticStatusAffected"/>
<display value="Affected"/>
</concept>
<concept>
<code value="GeneticStatusCarrier"/>
<display value="Carrier"/>
</concept>
<concept>
<code value="HbA2Percent"/>
<display value="Hb A2 (%)"/>
</concept>
<concept>
<code value="HbFPercent"/>
<display value="Hb F (%)"/>
</concept>
<concept>
<code value="OtherHbPercent"/>
<display value="Other Hb (%)"/>
</concept>
<concept>
<code value="CFReferralScenario"/>
<display value="CF carrier testing referral scenario"/>
</concept>
<concept>
<code value="CFReferralFamilyHistory"/>
<display value="Family history of CF"/>
</concept>
<concept>
<code value="CFReferralPartner"/>
<display value="Partner of a patient affected with, or a carrier of, CF"/>
</concept>
<concept>
<code value="WGSPathwayRareDiseaseProband"/>
<display value="WGS pathway - Rare Disease, Proband"/>
</concept>
<concept>
<code value="WGSPathwayRareDiseaseFamilyMember"/>
<display value="WGS pathway - Rare Disease, Family Member"/>
</concept>
<concept>
<code value="WGSPathwayCancerTumour"/>
<display value="WGS pathway - Cancer, Tumour Sample"/>
</concept>
<concept>
<code value="WGSPathwayCancerGermline"/>
<display value="WGS pathway - Cancer, Germline Sample"/>
</concept>
<concept>
<code value="VariantReviewReasonNewInformation"/>
<display
value="New information (e.g. segregation data, change in phenotype, publication)"/>
</concept>
<concept>
<code value="VariantReviewReasonTimeElapsed"/>
<display
value="Sufficient time having passed since the initial review (>2 years)"/>
</concept>
<concept>
<code value="VariantReviewReasonUrgent"/>
<display value="Urgent clinical scenario, e.g. prenatal diagnosis"/>
</concept>
<concept>
<code value="VariantReviewReasonFormalClassification"/>
<display
value="Variant requiring formal classification, using ACGS guidelines, where none exists"/>
</concept>
<concept>
<code value="ReportReference"/>
<display value="Prior report reference"/>
</concept>
<concept>
<code value="DeafnessSyndromePendred"/>
<display value="Pendred syndrome"/>
</concept>
<concept>
<code value="DeafnessSyndromeUsher"/>
<display value="Usher syndrome"/>
</concept>
<concept>
<code value="DeafnessSyndromeJervellLangeNielsen"/>
<display value="Jervell-Lange Nielsen syndrome"/>
</concept>
<concept>
<code value="DeafnessSyndromeWaardenburg"/>
<display value="Waardenburg syndrome"/>
</concept>
<concept>
<code value="DeafnessSyndromeBranchioOtoRenal"/>
<display value="Branchio-oto-renal syndrome"/>
</concept>
<concept>
<code value="DeafnessSyndromeWolfram"/>
<display value="Wolfram syndrome"/>
</concept>
<concept>
<code value="DeafnessRiskFactorPrematurity"/>
<display value="Prematurity"/>
</concept>
<concept>
<code value="DeafnessRiskFactorHyperbilirubinemia"/>
<display value="Hyperbilirubinemia"/>
</concept>
<concept>
<code value="DeafnessRiskFactorProlongedNNUStay"/>
<display value="Prolonged neonatal care unit stay"/>
</concept>
<concept>
<code value="DeafnessRiskFactorOtotoxicMedication"/>
<display value="Ototoxic medication"/>
</concept>
<concept>
<code value="AudiogramSeverityRight"/>
<display value="Audiogram severity - right ear"/>
</concept>
<concept>
<code value="AudiogramSeverityLeft"/>
<display value="Audiogram severity - left ear"/>
</concept>
<concept>
<code value="AudiogramProgression"/>
<display value="Audiogram progression"/>
</concept>
<concept>
<code value="NHSPatient"/>
<display value="NHS patient"/>
</concept>
<concept>
<code value="PrivatePatient"/>
<display value="Private patient"/>
</concept>
<concept>
<code value="ReportMethodEmail"/>
<display value="Email"/>
</concept>
<concept>
<code value="ReportMethodFax"/>
<display value="Fax"/>
</concept>
<concept>
<code value="ReasonNHSNumberNotAvailable"/>
<display value="Reason NHS Number not available"/>
</concept>
<concept>
<code value="FamilyTestType"/>
<display value="Family test type (Singleton/Trio/Other)"/>
</concept>
<concept>
<code value="FamilyTestSingleton"/>
<display value="Singleton"/>
</concept>
<concept>
<code value="FamilyTestTrio"/>
<display value="Trio"/>
</concept>
<concept>
<code value="FamilyTestOther"/>
<display value="Other"/>
</concept>
<concept>
<code value="FamilyMemberStatus"/>
<display value="Family member status (form field purpose unconfirmed)"/>
</concept>
<concept>
<code value="UrgencyReason"/>
<display value="Reason for urgency (Clinical Priority)"/>
</concept>
<concept>
<code value="AdditionalPanels"/>
<display
value="Additional gene panel(s) (Genomics England PanelApp, GMS Rare Disease Virtual)"/>
</concept>
<concept>
<code value="ProbandAgeAtOnset"/>
<display value="Proband's age at onset of clinical features"/>
</concept>
<concept>
<code value="SpecificRareDiseaseSuspected"/>
<display value="Specific rare disease suspected or confirmed"/>
</concept>
<concept>
<code value="HPOTerm"/>
<display value="HPO (Human Phenotype Ontology) term"/>
</concept>
<concept>
<code value="MainContact"/>
<display
value="Main contact (if different from responsible clinician/consultant)"/>
</concept>
<concept>
<code value="PresentationStatus"/>
<display
value="Presentation status (First diagnosis/Recurrence/Relapse/Unknown)"/>
</concept>
<concept>
<code value="PresentationFirstDiagnosis"/>
<display value="First diagnosis"/>
</concept>
<concept>
<code value="PresentationRecurrenceRelapse"/>
<display value="Recurrence/Relapse"/>
</concept>
<concept>
<code value="TumourPresentationType"/>
<display
value="Tumour presentation type (Primary/Metastatic/Unknown/Lymphoma)"/>
</concept>
<concept>
<code value="TumourPresentationPrimary"/>
<display value="Primary"/>
</concept>
<concept>
<code value="TumourPresentationMetastatic"/>
<display value="Metastatic"/>
</concept>
<concept>
<code value="TumourPresentationLymphoma"/>
<display value="Lymphoma"/>
</concept>
<concept>
<code value="HistopathologyLabID"/>
<display value="Histopathology Lab ID"/>
</concept>
<concept>
<code value="SIHMDSLabID"/>
<display value="SIHMDS Lab ID"/>
</concept>
<concept>
<code value="HaematoOncologyLiquidTumourType"/>
<display value="Haemato-oncology liquid tumour type (AML/ALL/Other)"/>
</concept>
<concept>
<code value="NucleatedCellCount"/>
<display
value="Nucleated cell count (bone marrow/peripheral blood sample)"/>
</concept>
<concept>
<code value="FamilyMemberPotentialDonor"/>
<display value="Family Member / Potential Donor"/>
</concept>
<concept>
<code value="CMVPositive"/>
<display value="Positive"/>
</concept>
<concept>
<code value="CMVNegative"/>
<display value="Negative"/>
</concept>
<concept>
<code value="CMVDontKnow"/>
<display value="Don't know"/>
</concept>
<concept>
<code value="HLAClassITyping"/>
<display value="HLA Class I type"/>
</concept>
<concept>
<code value="HLAClassIAndIITyping"/>
<display value="HLA Class I and Class II type"/>
</concept>
<concept>
<code value="ChimerismTotalWholeBlood"/>
<display value="Total / Whole Blood"/>
</concept>
<concept>
<code value="ChimerismLineageSpecificHSCT"/>
<display value="Lineage specific"/>
</concept>
<concept>
<code value="CategoryPatientRenal"/>
<display value="Patient - Renal"/>
</concept>
<concept>
<code value="CategoryPatientNonRenal"/>
<display value="Patient - Non-Renal"/>
</concept>
<concept>
<code value="CategoryDonor"/>
<display value="Donor"/>
</concept>
<concept>
<code value="RenalPreDialysis"/>
<display value="Pre-dialysis"/>
</concept>
<concept>
<code value="RenalCAPD"/>
<display value="CAPD"/>
</concept>
<concept>
<code value="RenalHaemodialysis"/>
<display value="Haemodialysis"/>
</concept>
<concept>
<code value="RenalPostTransplant"/>
<display value="Post transplant"/>
</concept>
<concept>
<code value="NonRenalCardiothoracic"/>
<display value="Cardiothoracic"/>
</concept>
<concept>
<code value="NonRenalLiverSmallBowel"/>
<display value="Liver/small bowel"/>
</concept>
<concept>
<code value="NonRenalCornea"/>
<display value="Cornea"/>
</concept>
<concept>
<code value="NonRenalOther"/>
<display value="Other"/>
</concept>
<concept>
<code value="DonorPreTransplant"/>
<display value="Pre transplant"/>
</concept>
<concept>
<code value="DonorPostTransplant"/>
<display value="Post transplant"/>
</concept>
<concept>
<code value="DonorLiveDonor"/>
<display value="Live donor"/>
</concept>
<concept>
<code value="DonorAltruisticDonor"/>
<display value="Altruistic donor"/>
</concept>
<concept>
<code value="OrganHLAType"/>
<display value="HLA type"/>
</concept>
<concept>
<code value="OrganHLASpecificAntibodies"/>
<display value="HLA specific antibodies"/>
</concept>
<concept>
<code value="OrganLiveDonorCrossmatch"/>
<display value="Live donor crossmatch"/>
</concept>
<concept>
<code value="OrganAutoCrossmatch"/>
<display value="Auto crossmatch"/>
</concept>
<concept>
<code value="WGSParticipantTypeProband"/>
<display value="Proband"/>
</concept>
<concept>
<code value="WGSParticipantTypeFamilyMember"/>
<display value="Family Member"/>
</concept>
</CodeSystem>