Generated Narrative: Questionnaire RareDiseaseGenomicAskAtOrderEntry

Profile: Questionnaire

Structure
LinkIDTextCardinalityTypeDescription & Constraintsdoco
.. **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Genomic Testing Request Form - Rare Disease** (DOC4900), the generic Rare Disease paper order form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/RareDiseaseGenomicAskAtOrderEntry#2.2.0
... PatientPatient Details0..1groupDefinition: Patient
.... LN/45394-4Surname0..1stringDefinition: Patient.name.family
.... LN/45392-8Forename0..1stringDefinition: Patient.name.given
.... LN/21112-8D.O.B.0..1dateDefinition: Patient.birthDate
.... LN/46098-0Biological Sex0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... NOS/GenderIdentityGender Identity0..1string
..... NOS/GenderIdentity-designNoteNo clean FHIR field identified - distinct from Biological Sex on this form's own layout.0..1display
.... LN/56799-0Address0..*stringDefinition: Patient.address.line
.... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
.... LN/32624-9Ethnicity0..1choiceDefinition: Patient.extension:ethnicCategory
Value Set: Ethnicity
.... LN/89061-6NHS No0..1stringDefinition: Patient.identifier:nhsNumber
.... LN/76435-7Hospital No0..1stringDefinition: Patient.identifier:MedicalRecordNumber
... HealthcareProfessionalReferring Clinician/Healthcare Professional0..1groupDefinition: PractitionerRole
.... LN/18705-4Consultant/Clinician (in full)0..1stringDefinition: PractitionerRole.practitioner.display
.... HL7/ORC-21Hospital/Surgery (in full)0..1stringDefinition: PractitionerRole.organization.identifier.value
.... LN/18707-0Clinical Specialty/Department0..1choiceDefinition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... LN/89058-2E-mail/Tel0..1stringDefinition: PractitionerRole.telecom.value
.... NOS/RequestedByCcReportToRequested by/Cc. Report to0..1string
..... NOS/RequestedByCcReportTo-designNoteSame genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields.0..1display
... AskAtOrderEntryAsk At Order Entry Questions0..1group
.... NOS/ClinicalUtilityClinical utility1..*choiceDefinition: Observation.valueCodeableConcept
Options: 3 options
.... NOS/TargetedFamilialTestingTargeted familial testing?0..1booleanDefinition: Observation.valueBoolean
.... NOS/TargetedFamilialVariantKnown familial variant and affected relative0..1stringDefinition: Observation.valueString
Enable When: NOS/TargetedFamilialTesting = true

doco Documentation for this format

Options Sets

Answer options for NOS/ClinicalUtility

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPatientManagement
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityReproductiveDecision
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#ClinicalUtilityPredictiveTesting
 <status value="unknown"/> <date value="2026-09-20T05:53:36+00:00"/> <publisher value="NHS North West Genomics"/> <contact> <telecom> <system value="url"/> <value value="https://www.nwgenomics.nhs.uk/contact-us"/> </telecom> </contact> <description value="**For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Genomic Testing Request Form - Rare Disease** (DOC4900), the generic Rare Disease paper order form, used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form's own Test Request Details section (R code, clinical details) already maps directly onto the common core's Test Request group, so this Questionnaire only carries the additional Clinical Utility and targeted familial testing detail the paper form asks for."/> <jurisdiction> <coding> <system value="urn:iso:std:iso:3166"/> <code value="GB"/> <display value="United Kingdom of Great Britain and Northern Ireland"/> </coding> </jurisdiction> <item> <linkId value="Patient"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient"/> <text value="Patient Details"/> <type value="group"/> <item> <linkId value="LN/45394-4"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family"/> <code> <system value="http://loinc.org"/> <code value="45394-4"/> </code> <text value="Surname"/> <type value="string"/> </item> <item> <linkId value="LN/45392-8"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given"/> <code> <system value="http://loinc.org"/> <code value="45392-8"/> </code> <text value="Forename"/> <type value="string"/> </item> <item> <linkId value="LN/21112-8"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate"/> <code> <system value="http://loinc.org"/> <code value="21112-8"/> </code> <text value="D.O.B."/> <type value="date"/> </item> <item> <linkId value="LN/46098-0"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.gender"/> <code> <system value="http://loinc.org"/> <code value="46098-0"/> </code> <text value="Biological Sex"/> <type value="choice"/> <answerValueSet value="http://hl7.org/fhir/ValueSet/administrative-gender"/> </item> <item> <linkId value="NOS/GenderIdentity"/> <text value="Gender Identity"/> <type value="string"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl"> <valueCodeableConcept> <coding> <system value="http://hl7.org/fhir/questionnaire-item-control"/> <code value="help"/> </coding> </valueCodeableConcept> </extension> <linkId value="NOS/GenderIdentity-designNote"/> <text value="No clean FHIR field identified - distinct from Biological Sex on this form's own layout."/> <type value="display"/> </item> </item> <item> <linkId value="LN/56799-0"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.line"/> <code> <system value="http://loinc.org"/> <code value="56799-0"/> </code> <text value="Address"/> <type value="string"/> <repeats value="true"/> </item> <item> <linkId value="LN/45401-7"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.postalCode"/> <code> <system value="http://loinc.org"/> <code value="45401-7"/> </code> <text value="Postcode"/> <type value="string"/> </item> <item> <linkId value="LN/32624-9"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory"/> <code> <system value="http://loinc.org"/> <code value="32624-9"/> </code> <text value="Ethnicity"/> <type value="choice"/> <answerValueSet value="https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity"/> </item> <item> <linkId value="LN/89061-6"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber"/> <code> <system value="http://loinc.org"/> <code value="89061-6"/> </code> <text value="NHS No"/> <type value="string"/> </item> <item> <linkId value="LN/76435-7"/> <definition value="http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber"/> <code> <system value="http://loinc.org"/> <code value="76435-7"/> </code> <text value="Hospital No"/> <type value="string"/> </item> </item> <item> <linkId value="HealthcareProfessional"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole"/> <text value="Referring Clinician/Healthcare Professional"/> <type value="group"/> <item> <linkId value="LN/18705-4"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.practitioner.display"/> <code> <system value="http://loinc.org"/> <code value="18705-4"/> </code> <text value="Consultant/Clinician (in full)"/> <type value="string"/> </item> <item> <linkId value="HL7/ORC-21"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value"/> <text value="Hospital/Surgery (in full)"/> <type value="string"/> </item> <item> <linkId value="LN/18707-0"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code"/> <code> <system value="http://loinc.org"/> <code value="18707-0"/> </code> <text value="Clinical Specialty/Department"/> <type value="choice"/> <answerValueSet value="https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode"/> </item> <item> <linkId value="LN/89058-2"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value"/> <code> <system value="http://loinc.org"/> <code value="89058-2"/> <display value="Contact email address"/> </code> <text value="E-mail/Tel"/> <type value="string"/> </item> <item> <linkId value="NOS/RequestedByCcReportTo"/> <text value="Requested by/Cc. Report to"/> <type value="string"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl"> <valueCodeableConcept> <coding> <system value="http://hl7.org/fhir/questionnaire-item-control"/> <code value="help"/> </coding> </valueCodeableConcept> </extension> <linkId value="NOS/RequestedByCcReportTo-designNote"/> <text value="Same genuinely-additional-person gap identified on the GMS WGS national forms' own Main Contact group and Genomic Test Order - Common Fields We May Have Missed (Copy Report To) - modelled here as free text since this form doesn't break it into separate Name/Department/Phone/Email fields."/> <type value="display"/> </item> </item> </item> <item> <linkId value="AskAtOrderEntry"/> <text value="Ask At Order Entry Questions"/> <type value="group"/> <item> <linkId value="NOS/ClinicalUtility"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/> <text value="Clinical utility"/> <type value="choice"/> <required value="true"/> <repeats value="true"/> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="ClinicalUtilityPatientManagement"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="ClinicalUtilityReproductiveDecision"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="ClinicalUtilityPredictiveTesting"/> </valueCoding> </answerOption> </item> <item> <linkId value="NOS/TargetedFamilialTesting"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean"/> <text value="Targeted familial testing?"/> <type value="boolean"/> </item> <item> <linkId value="NOS/TargetedFamilialVariant"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="TargetedFamilialVariant"/> </code> <text value="Known familial variant and affected relative"/> <type value="string"/> <enableWhen> <question value="NOS/TargetedFamilialTesting"/> <operator value="="/> <answerBoolean value="true"/> </enableWhen> </item> </item> </Questionnaire>