{ "resourceType" : "Questionnaire", "id" : "GMSWGSRareDisease", "meta" : { "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"] }, "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: Questionnaire GMSWGSRareDisease

Profile: Questionnaire

Structure\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n\r\n
LinkIDTextCardinalityTypeDescription & Constraints\"doco\"
\".\"\".\" **For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the **NHS Genomic Medicine Service\n(GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the\nnational GMS-branded form, not NW GLH-specific), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform has no Whole Genome Sequencing Test Category in the common core's Test\nCode branches, so its own Test Directory Clinical Indication item fills\nthat gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on\nthis form** - WGS analysis cannot start without at least one - see\n[Genomic Test Order - Common Fields We May Have\nMissed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed).Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease#2.2.0
\".\"\".\"\".\" PatientPatient0..1groupDefinition: Patient
\".\"\".\"\".\"\".\" LN/45392-8Proband's first name1..1stringDefinition: Patient.name.given
\".\"\".\"\".\"\".\" LN/45394-4Proband's last name1..1stringDefinition: Patient.name.family
\".\"\".\"\".\"\".\" LN/21112-8Date of birth (dd/mm/yyyy)1..1dateDefinition: Patient.birthDate
\".\"\".\"\".\"\".\" LN/76435-7Hospital number0..1stringDefinition: Patient.identifier:MedicalRecordNumber
\".\"\".\"\".\"\".\" LN/46098-0Sex assigned at birth0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
\".\"\".\"\".\"\".\" LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
\".\"\".\"\".\"\".\" LN/89061-6NHS number0..1stringDefinition: Patient.identifier:nhsNumber
\".\"\".\"\".\"\".\"\".\" LN/89061-6-designNoteSee NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available.0..1display
\".\"\".\"\".\"\".\" LN/32624-9Ethnicity0..1choiceDefinition: Patient.extension:ethnicCategory
Value Set: Ethnicity
\".\"\".\"\".\" HealthcareProfessionalResponsible clinician / consultant0..1groupDefinition: PractitionerRole
\".\"\".\"\".\"\".\" LN/18705-4Name0..1stringDefinition: PractitionerRole.practitioner.display
\".\"\".\"\".\"\".\" NOS/DepartmentAddressDepartment address0..1stringDefinition: PractitionerRole.organization.display
\".\"\".\"\".\"\".\" LN/81230-5Phone0..1stringDefinition: PractitionerRole.telecom.value
\".\"\".\"\".\"\".\" LN/89058-2Email0..1stringDefinition: PractitionerRole.telecom.value
\".\"\".\"\".\" AskAtOrderEntryAsk At Order Entry Questions0..1group
\".\"\".\"\".\"\".\" HL7/ORC-21-requestingRequesting organisation0..1stringDefinition: PractitionerRole.organization.identifier.value
\".\"\".\"\".\"\".\"\".\" HL7/ORC-21-requesting-designNoteSame concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below.0..1display
\".\"\".\"\".\"\".\" NOS/GMSLaboratoryGMS laboratory (to receive sample)0..1stringDefinition: ServiceRequest.performer
\".\"\".\"\".\"\".\" NOS/FamilyTestTypeFamily test1..1choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
\".\"\".\"\".\"\".\"\".\" NOS/FamilyTestType-designNoteThe form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'.0..1display
\".\"\".\"\".\"\".\"\".\" NOS/FamilyTestOtherNumberNumber of family members being tested (if 'Other')0..1integerEnable When: NOS/FamilyTestType = Other (NW GMSA Codes#FamilyTestOther)
\".\"\".\"\".\"\".\" NOS/ReasonNHSNumberNotAvailableReason NHS Number not available (e.g. patient not eligible, foreign national)0..1stringDefinition: Patient.identifier:nhsNumber.extension
\".\"\".\"\".\"\".\" NOS/UrgencyReasonReason for urgency, if requesting priority over the standard non-urgent pathway0..1stringDefinition: ServiceRequest.note
\".\"\".\"\".\"\".\"\".\" NOS/UrgencyReason-designNoteThe Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here.0..1display
\".\"\".\"\".\"\".\" NOS/ReasonForDiagnosticTestReason for diagnostic test1..*choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
\".\"\".\"\".\"\".\"\".\" NOS/ReasonForDiagnosticTest-designNoteIdentical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined.0..1display
\".\"\".\"\".\"\".\" NOS/RODToFollow-gms-rdRecord of Discussion (ROD) attached, or to follow0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
\".\"\".\"\".\"\".\" NOS/TestDirectoryClinicalIndication-rdTest Directory Clinical Indication & code (reason for testing)1..1choiceDefinition: ServiceRequest.code
Value Set: GMS WGS Rare Disease Form - Guide Test Codes
\".\"\".\"\".\"\".\"\".\" NOS/TestDirectoryClinicalIndication-rd-designNoteThe common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition.0..1display
\".\"\".\"\".\"\".\" NOS/AdditionalPanelsAdditional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp0..1string
\".\"\".\"\".\"\".\"\".\" NOS/AdditionalPanels-designNoteNo FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG.0..1display
\".\"\".\"\".\"\".\" NOS/ProbandAgeAtOnsetProband's age at onset of clinical features0..1decimalDefinition: Condition.onsetAge
\".\"\".\"\".\"\".\"\".\" NOS/ProbandAgeAtOnset-designNoteDistinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared.0..1display
\".\"\".\"\".\"\".\" NOS/SpecificRareDiseaseSuspectedState if specific rare disease is suspected or confirmed0..1string
\".\"\".\"\".\"\".\"\".\" NOS/SpecificRareDiseaseSuspected-designNoteFree-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it.0..1display
\".\"\".\"\".\"\".\" NOS/LifeStatusLife status0..1choiceDefinition: Patient.deceasedBoolean
Options: 2 options
\".\"\".\"\".\"\".\" FamilyMembersFamily member(s) to be tested0..*groupDefinition: ServiceRequest.supportingInfo
\".\"\".\"\".\"\".\"\".\" FamilyMembers-designNoteThe source PDF hard-codes exactly two family-member slots (form\nfields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS\nnumber/gender/deceased/status/ethnicity/relationship_to_proband\nfields, plus a matching FM1_*/FM2_* sample block further down the\nform) - modelled here as a proper repeating group instead, so it\nisn't artificially capped at two. Each repetition carries the same\nServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic\nClinical Referral - Consultand (RelatedPerson), but inline on this\nQuestionnaire rather than via a separate derivedFrom/extends\nQuestionnaire per relative. Not required for proband-only referrals.0..1display
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberReferenceFamily member0..1referenceDefinition: ServiceRequest.supportingInfo
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberForenameForename0..1stringDefinition: RelatedPerson.name.given
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSurnameSurname0..1stringDefinition: RelatedPerson.name.family
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberDOBDate of birth0..1dateDefinition: RelatedPerson.birthDate
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberNHSNumberNHS number (or postcode, if not known)0..1stringDefinition: RelatedPerson.identifier
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberGenderSex0..1choiceDefinition: RelatedPerson.gender
Value Set: AdministrativeGender
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberLifeStatusLife status0..1choiceOptions: 2 options
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberStatusStatus0..1string
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberStatus-designNoteThe source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation.0..1display
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberEthnicityEthnicity0..1choiceValue Set: Ethnicity
\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberRelationshipRelationship to proband0..1choiceDefinition: RelatedPerson.relationship
Value Set: UK Core Person Relationship Type
\".\"\".\"\".\"\".\"\".\" FamilyMembers/SpecimenSample (this family member) - only if also using this form for sample collection0..1group
\".\"\".\"\".\"\".\"\".\"\".\" FamilyMembers/Specimen-designNoteNested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group.0..1display
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSpecimenLocalIdLocal ID / barcode0..1stringDefinition: Specimen.identifier
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSpecimenCollectionDateTimeCollection date / time0..1dateTimeDefinition: Specimen.collection.collectedDateTime
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSpecimenSampleTypeSample type0..1choiceDefinition: Specimen.type
Value Set: Specimen Type
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSpecimenVolumeSample volume0..1decimalDefinition: Specimen.collection.quantity
\".\"\".\"\".\"\".\"\".\"\".\" NOS/FamilyMemberSpecimenCommentsComments0..1string
\".\"\".\"\".\"\".\" GMSSpecimenSamples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)0..1group
\".\"\".\"\".\"\".\"\".\" GMSSpecimen-designNoteSample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat.0..1display
\".\"\".\"\".\"\".\" HPOTermsHPO (Human Phenotype Ontology) Terms1..1group
\".\"\".\"\".\"\".\"\".\" HPOTerms-designNoteMandatory - at least one HPO term is required, and WGS analysis and\ninterpretation cannot commence without them.\n\nThe form's own page 2 offers a "guide, not exhaustive" list of 38\nexample terms grouped by specialty (Cardiology, Immunology,\nOphthalmology, Renal, Developmental, Neurology) - rendered as an\nimage on the form itself, not selectable text or coded values.\nGMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO\ncodes (http://purl.obolibrary.org/obo/hp.owl, release 20191108),\nconfirmed term-by-term against the Genomics England terminology\nserver (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup\nrather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT\nmapping built from that same verification pass. Bound below as\n#open-choice, so those 38 terms are offered as quick picks without\npreventing entry of any other HPO term/code not in this guide list.0..1display
\".\"\".\"\".\"\".\"\".\" NOS/HPOTermHPO Term1..*open-choiceDefinition: Condition.code
Value Set: GMS WGS Rare Disease Form - Guide HPO Terms
\".\"\".\"\".\"\".\"\".\" NOS/HPOTermStatusPresent / Absent / Unknown1..*choiceDefinition: Condition.verificationStatus
Options: 3 options
\".\"\".\"\".\"\".\" MainContactMain contact (if different from responsible clinician/consultant)0..1group
\".\"\".\"\".\"\".\"\".\" MainContact-designNoteResponsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms.0..1display
\".\"\".\"\".\"\".\"\".\" NOS/MainContactNameName0..1string
\".\"\".\"\".\"\".\"\".\" NOS/MainContactDepartmentAddressDepartment address0..1string
\".\"\".\"\".\"\".\"\".\" NOS/MainContactPhonePhone0..1string
\".\"\".\"\".\"\".\"\".\" NOS/MainContactEmailEmail0..1string

\"doco\" Documentation for this format

Options Sets

Answer options for NOS/FamilyTestType

Answer options for NOS/ReasonForDiagnosticTest

Answer options for NOS/RODToFollow-gms-rd

Answer options for NOS/LifeStatus

Answer options for NOS/FamilyMemberLifeStatus

Answer options for NOS/HPOTermStatus

" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/artifact-versionAlgorithm", "valueCoding" : { "system" : "http://hl7.org/fhir/version-algorithm", "code" : "semver" } }], "url" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/GMSWGSRareDisease", "version" : "2.2.0", "title" : "GMS WGS Rare Disease", "status" : "unknown", "date" : "2026-09-20T05:53:36+00:00", "publisher" : "NHS North West Genomics", "contact" : [{ "telecom" : [{ "system" : "url", "value" : "https://www.nwgenomics.nhs.uk/contact-us" }] }], "description" : "**For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the **NHS Genomic Medicine Service\n(GMS) Whole Genome Sequencing (WGS) Test Request - Rare Disease** form (the\nnational GMS-branded form, not NW GLH-specific), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform has no Whole Genome Sequencing Test Category in the common core's Test\nCode branches, so its own Test Directory Clinical Indication item fills\nthat gap directly. **HPO (Human Phenotype Ontology) terms are mandatory on\nthis form** - WGS analysis cannot start without at least one - see\n[Genomic Test Order - Common Fields We May Have\nMissed](Questionnaire-GenomicTestOrder.html#common-fields-we-may-have-missed).", "jurisdiction" : [{ "coding" : [{ "system" : "urn:iso:std:iso:3166", "code" : "GB", "display" : "United Kingdom of Great Britain and Northern Ireland" }] }], "item" : [{ "linkId" : "Patient", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient", "text" : "Patient", "type" : "group", "item" : [{ "linkId" : "LN/45392-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given", "code" : [{ "system" : "http://loinc.org", "code" : "45392-8" }], "text" : "Proband's first name", "type" : "string", "required" : true }, { "linkId" : "LN/45394-4", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family", "code" : [{ "system" : "http://loinc.org", "code" : "45394-4" }], "text" : "Proband's last name", "type" : "string", "required" : true }, { "linkId" : "LN/21112-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate", "code" : [{ "system" : "http://loinc.org", "code" : "21112-8" }], "text" : "Date of birth (dd/mm/yyyy)", "type" : "date", "required" : true }, { "linkId" : "LN/76435-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber", "code" : [{ "system" : "http://loinc.org", "code" : "76435-7" }], "text" : "Hospital number", "type" : "string" }, { "linkId" : "LN/46098-0", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender", "code" : [{ "system" : "http://loinc.org", "code" : "46098-0" }], "text" : "Sex assigned at birth", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "linkId" : "LN/45401-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.postalCode", "code" : [{ "system" : "http://loinc.org", "code" : "45401-7" }], "text" : "Postcode", "type" : "string" }, { "linkId" : "LN/89061-6", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber", "code" : [{ "system" : "http://loinc.org", "code" : "89061-6" }], "text" : "NHS number", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "LN/89061-6-designNote", "text" : "See NOS/ReasonNHSNumberNotAvailable in Ask At Order Entry Questions below if not available.", "type" : "display" }] }, { "linkId" : "LN/32624-9", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory", "code" : [{ "system" : "http://loinc.org", "code" : "32624-9" }], "text" : "Ethnicity", "type" : "choice", "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity" }] }, { "linkId" : "HealthcareProfessional", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole", "text" : "Responsible clinician / consultant", "type" : "group", "item" : [{ "linkId" : "LN/18705-4", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.display", "code" : [{ "system" : "http://loinc.org", "code" : "18705-4" }], "text" : "Name", "type" : "string" }, { "linkId" : "NOS/DepartmentAddress", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.display", "text" : "Department address", "type" : "string" }, { "linkId" : "LN/81230-5", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value", "code" : [{ "system" : "http://loinc.org", "code" : "81230-5" }], "text" : "Phone", "type" : "string" }, { "linkId" : "LN/89058-2", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value", "code" : [{ "system" : "http://loinc.org", "code" : "89058-2", "display" : "Contact email address" }], "text" : "Email", "type" : "string" }] }, { "linkId" : "AskAtOrderEntry", "text" : "Ask At Order Entry Questions", "type" : "group", "item" : [{ "linkId" : "HL7/ORC-21-requesting", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value", "text" : "Requesting organisation", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "HL7/ORC-21-requesting-designNote", "text" : "Same concept as the common core's own Referring Organisation ODS Code / Ordering Facility (HL7/ORC-21) - kept as its own item here to sit alongside GMS laboratory below.", "type" : "display" }] }, { "linkId" : "NOS/GMSLaboratory", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.performer", "text" : "GMS laboratory (to receive sample)", "type" : "string" }, { "linkId" : "NOS/FamilyTestType", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyTestType" }], "text" : "Family test", "type" : "choice", "required" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyTestSingleton" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyTestTrio" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyTestOther" } }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/FamilyTestType-designNote", "text" : "The form's own PDF radio buttons offer Singleton/Trio/Other (with a number), not Duo, since a Duo is presumably covered by 'Other'.", "type" : "display" }, { "linkId" : "NOS/FamilyTestOtherNumber", "text" : "Number of family members being tested (if 'Other')", "type" : "integer", "enableWhen" : [{ "question" : "NOS/FamilyTestType", "operator" : "=", "answerCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyTestOther" } }] }] }, { "linkId" : "NOS/ReasonNHSNumberNotAvailable", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber.extension", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ReasonNHSNumberNotAvailable" }], "text" : "Reason NHS Number not available (e.g. patient not eligible, foreign national)", "type" : "string" }, { "linkId" : "NOS/UrgencyReason", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.note", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "UrgencyReason" }], "text" : "Reason for urgency, if requesting priority over the standard non-urgent pathway", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/UrgencyReason-designNote", "text" : "The Clinical Priority selection itself is the same concept as the common core's own Priority item (LN/82768-3) - only the free-text urgency justification is new here.", "type" : "display" }] }, { "linkId" : "NOS/ReasonForDiagnosticTest", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "text" : "Reason for diagnostic test", "type" : "choice", "required" : true, "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityPatientManagement" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityReproductiveDecision" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ClinicalUtilityPredictiveTesting" } }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/ReasonForDiagnosticTest-designNote", "text" : "Identical wording and options to Clinical utility on Rare Disease Genomic Testing Ask At Order Entry (NOS/ClinicalUtility, for the NW GLH DOC4900 paper form) - the same three options, reused here rather than re-defined.", "type" : "display" }] }, { "linkId" : "NOS/RODToFollow-gms-rd", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RODToFollow" }], "text" : "Record of Discussion (ROD) attached, or to follow", "type" : "choice", "answerOption" : [{ "valueCoding" : { "system" : "http://loinc.org", "code" : "LA33-6", "display" : "Attached" } }, { "valueCoding" : { "system" : "http://loinc.org", "code" : "LA32-8", "display" : "To follow" } }] }, { "linkId" : "NOS/TestDirectoryClinicalIndication-rd", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.code", "text" : "Test Directory Clinical Indication & code (reason for testing)", "type" : "choice", "required" : true, "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideTestCodesVS", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/TestDirectoryClinicalIndication-rd-designNote", "text" : "The common core's own Test Code item only fires for Rare and Inherited Disease/Haemoglobinopathy/Cancer Test Categories, none of which cover Whole Genome Sequencing. Bound below against GMSWGSGuideTestCodesVS (the 37 $GTD R* codes whose display text names WGS) rather than the full GenomicTestCodes ValueSet, since every test ordered on this form is a WGS test by definition.", "type" : "display" }] }, { "linkId" : "NOS/AdditionalPanels", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "AdditionalPanels" }], "text" : "Additional panel(s) (mandatory for R89) - GMS Rare Disease Virtual panels, Genomics England PanelApp", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/AdditionalPanels-designNote", "text" : "No FHIR mapping or coding system confirmed yet - Genomics England PanelApp panel names/versions are not currently represented anywhere in this IG.", "type" : "display" }] }, { "linkId" : "NOS/ProbandAgeAtOnset", "definition" : "http://hl7.org/fhir/StructureDefinition/Condition#Condition.onsetAge", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "ProbandAgeAtOnset" }], "text" : "Proband's age at onset of clinical features", "type" : "decimal", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/ProbandAgeAtOnset-designNote", "text" : "Distinct from the common core's Age at collection (ageAtCollection) item, which is the patient's age when the specimen was taken, not when clinical features first appeared.", "type" : "display" }] }, { "linkId" : "NOS/SpecificRareDiseaseSuspected", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "SpecificRareDiseaseSuspected" }], "text" : "State if specific rare disease is suspected or confirmed", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/SpecificRareDiseaseSuspected-designNote", "text" : "Free-text complement to the common core's own coded CITT code (Specific disease suspected/reason for testing, LN/51967-8, ServiceRequest.reasonCode) - not a replacement for it.", "type" : "display" }] }, { "linkId" : "NOS/LifeStatus", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.deceasedBoolean", "text" : "Life status", "type" : "choice", "answerOption" : [{ "valueCoding" : { "system" : "http://snomed.info/sct", "code" : "438949009", "display" : "Alive" } }, { "valueCoding" : { "system" : "http://snomed.info/sct", "code" : "419099009", "display" : "Deceased" } }] }, { "linkId" : "FamilyMembers", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo", "text" : "Family member(s) to be tested", "type" : "group", "repeats" : true, "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "FamilyMembers-designNote", "text" : "The source PDF hard-codes exactly two family-member slots (form\nfields FM1_* and FM2_*, each with their own forename/surname/DOB/NHS\nnumber/gender/deceased/status/ethnicity/relationship_to_proband\nfields, plus a matching FM1_*/FM2_* sample block further down the\nform) - modelled here as a proper repeating group instead, so it\nisn't artificially capped at two. Each repetition carries the same\nServiceRequest.supportingInfo -> RelatedPerson pattern as Genetic\nClinical Referral - Consultand (RelatedPerson), but inline on this\nQuestionnaire rather than via a separate derivedFrom/extends\nQuestionnaire per relative. Not required for proband-only referrals.", "type" : "display" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile", "valueCanonical" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson" }], "linkId" : "NOS/FamilyMemberReference", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo", "text" : "Family member", "type" : "reference" }, { "linkId" : "NOS/FamilyMemberForename", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.given", "text" : "Forename", "type" : "string" }, { "linkId" : "NOS/FamilyMemberSurname", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name.family", "text" : "Surname", "type" : "string" }, { "linkId" : "NOS/FamilyMemberDOB", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate", "text" : "Date of birth", "type" : "date" }, { "linkId" : "NOS/FamilyMemberNHSNumber", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier", "text" : "NHS number (or postcode, if not known)", "type" : "string" }, { "linkId" : "NOS/FamilyMemberGender", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender", "text" : "Sex", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "linkId" : "NOS/FamilyMemberLifeStatus", "text" : "Life status", "type" : "choice", "answerOption" : [{ "valueCoding" : { "system" : "http://snomed.info/sct", "code" : "438949009", "display" : "Alive" } }, { "valueCoding" : { "system" : "http://snomed.info/sct", "code" : "419099009", "display" : "Deceased" } }] }, { "linkId" : "NOS/FamilyMemberStatus", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "FamilyMemberStatus" }], "text" : "Status", "type" : "string", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/FamilyMemberStatus-designNote", "text" : "The source PDF has a separate 'status' dropdown alongside 'deceased' for each family member (FM1_status/FM2_status), distinct from life status - its intended meaning (e.g. affected/unaffected/carrier) isn't stated on the form's own visible labels, so it is modelled here as free text pending confirmation.", "type" : "display" }] }, { "linkId" : "NOS/FamilyMemberEthnicity", "text" : "Ethnicity", "type" : "choice", "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity" }, { "linkId" : "NOS/FamilyMemberRelationship", "definition" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship", "text" : "Relationship to proband", "type" : "choice", "answerValueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType" }, { "linkId" : "FamilyMembers/Specimen", "text" : "Sample (this family member) - only if also using this form for sample collection", "type" : "group", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "FamilyMembers/Specimen-designNote", "text" : "Nested within each Family member repetition, mirroring the source PDF's own parallel FM1_*/FM2_* sample fields alongside its FM1_*/FM2_* demographic fields. Sample type, Sample volume and Comments follow the same shape as Genomic Test Order's own Specimen group.", "type" : "display" }, { "linkId" : "NOS/FamilyMemberSpecimenLocalId", "definition" : "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.identifier", "text" : "Local ID / barcode", "type" : "string" }, { "linkId" : "NOS/FamilyMemberSpecimenCollectionDateTime", "definition" : "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.collectedDateTime", "text" : "Collection date / time", "type" : "dateTime" }, { "linkId" : "NOS/FamilyMemberSpecimenSampleType", "definition" : "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.type", "text" : "Sample type", "type" : "choice", "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/specimen-type" }, { "linkId" : "NOS/FamilyMemberSpecimenVolume", "definition" : "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.quantity", "text" : "Sample volume", "type" : "decimal" }, { "linkId" : "NOS/FamilyMemberSpecimenComments", "text" : "Comments", "type" : "string" }] }] }, { "linkId" : "GMSSpecimen", "text" : "Samples being sent to GMS DNA extraction lab (proband - only if also using this form for sample collection)", "type" : "group", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "GMSSpecimen-designNote", "text" : "Sample ID, Collection date/time, Sample volume and Comments here map directly onto the common core's own Specimen group (Specimen ID Number, Specimen Collection Date, Specimen Volume) - not re-declared as new items. Not repeating, since there is exactly one proband - see the nested Sample group under Family Members above for the equivalent per-family-member sample fields, which do repeat.", "type" : "display" }] }, { "linkId" : "HPOTerms", "text" : "HPO (Human Phenotype Ontology) Terms", "type" : "group", "required" : true, "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "HPOTerms-designNote", "text" : "Mandatory - at least one HPO term is required, and WGS analysis and\ninterpretation cannot commence without them.\n\nThe form's own page 2 offers a \"guide, not exhaustive\" list of 38\nexample terms grouped by specialty (Cardiology, Immunology,\nOphthalmology, Renal, Developmental, Neurology) - rendered as an\nimage on the form itself, not selectable text or coded values.\nGMSWGSGuideHPOTermsVS reproduces that same list, but as real HPO\ncodes (http://purl.obolibrary.org/obo/hp.owl, release 20191108),\nconfirmed term-by-term against the Genomics England terminology\nserver (https://ontoserver.aws.gel.ac/fhir) via CodeSystem/$lookup\nrather than guessed - see GMSWGSGuideHPOTermsToSCT for the SNOMED CT\nmapping built from that same verification pass. Bound below as\n#open-choice, so those 38 terms are offered as quick picks without\npreventing entry of any other HPO term/code not in this guide list.", "type" : "display" }, { "linkId" : "NOS/HPOTerm", "definition" : "http://hl7.org/fhir/StructureDefinition/Condition#Condition.code", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "HPOTerm" }], "text" : "HPO Term", "type" : "open-choice", "required" : true, "repeats" : true, "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/GMSWGSGuideHPOTermsVS" }, { "linkId" : "NOS/HPOTermStatus", "definition" : "http://hl7.org/fhir/StructureDefinition/Condition#Condition.verificationStatus", "text" : "Present / Absent / Unknown", "type" : "choice", "required" : true, "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "http://loinc.org", "code" : "LA33-6", "display" : "Present" } }, { "valueCoding" : { "system" : "http://loinc.org", "code" : "LA32-8", "display" : "Absent" } }, { "valueCoding" : { "system" : "http://loinc.org", "code" : "LA4489-6", "display" : "Unknown" } }] }] }, { "linkId" : "MainContact", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "MainContact" }], "text" : "Main contact (if different from responsible clinician/consultant)", "type" : "group", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "MainContact-designNote", "text" : "Responsible clinician/consultant maps directly onto the common core's own Healthcare Professional group and is not re-declared here. Main Contact is a genuinely additional, distinct person (used when the requester of a report copy isn't the responsible clinician) - see Genomic Test Order - Common Fields We May Have Missed (Copy Report To) for the same gap identified independently from the NW GLH paper forms.", "type" : "display" }, { "linkId" : "NOS/MainContactName", "text" : "Name", "type" : "string" }, { "linkId" : "NOS/MainContactDepartmentAddress", "text" : "Department address", "type" : "string" }, { "linkId" : "NOS/MainContactPhone", "text" : "Phone", "type" : "string" }, { "linkId" : "NOS/MainContactEmail", "text" : "Email", "type" : "string" }] }] }] }