Generated Narrative: Questionnaire HaemoglobinopathyGeneticAskAtOrderEntry

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 **Request for Genetic Testing for Haemoglobinopathies** form (DOC4544), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Two things are distinctive here: prior full blood count/HPLC laboratory results are submitted *with* the request (used to interpret the genetic result, not produced by it), and a relative/partner's own affected/carrier status can be referenced to give a couple-specific pregnancy risk.Questionnairehttps://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyGeneticAskAtOrderEntry#2.2.0
... PatientPatient Details0..1groupDefinition: Patient
.... LN/45394-4Surname0..1stringDefinition: Patient.name.family
.... LN/45392-8Forename0..1stringDefinition: Patient.name.given
.... LN/21112-8DoB0..1dateDefinition: Patient.birthDate
.... LN/89061-6NHS No0..1stringDefinition: Patient.identifier:nhsNumber
.... LN/46098-0Sex0..1choiceDefinition: Patient.gender
Value Set: AdministrativeGender
.... LN/76435-7Hospital No0..1stringDefinition: Patient.identifier:MedicalRecordNumber
.... LN/56799-0Address0..1stringDefinition: Patient.address.line
.... LN/45401-7Postcode0..1stringDefinition: Patient.address.postalCode
.... LN/32624-9Ethnicity/country of origin0..1choiceDefinition: Patient.extension:ethnicCategory
Value Set: Ethnicity
..... LN/32624-9-designNoteThe paper form's own section 3 uses a local A-H category scheme (Mixed/White/Mediterranean/Asian/South East Asian/Black/Arabic/Don't know, several free-text 'please specify country'), distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here. Same scheme as Prenatal Haemoglobinopathy's own equivalent field.0..1display
... HealthcareProfessionalReferring Clinician0..1groupDefinition: PractitionerRole
.... LN/18705-4Consultant0..1stringDefinition: PractitionerRole.practitioner.display
.... HL7/ORC-21Hospital0..1stringDefinition: PractitionerRole.organization.identifier.value
.... LN/18707-0Department0..1choiceDefinition: PractitionerRole.specialty.coding.code
Value Set: UK Core Practice Setting Code
.... NOS/CopyReportToCopy report to0..1string
..... NOS/CopyReportTo-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).0..1display
.... LN/81230-5Telephone No0..1stringDefinition: PractitionerRole.telecom.value
.... LN/89058-2Email0..1stringDefinition: PractitionerRole.telecom.value
... HL7/OBR-4-h-geneticTest Code (Haemoglobinopathy)1..*choiceDefinition: ServiceRequest.code
Options: 5 options
... NOS/AntenatalPatientAntenatal patient?0..1booleanDefinition: Observation.valueBoolean
.... NOS/AntenatalPatient-designNoteSame underlying question as Neonatal/Prenatal/Neither in NW Genomic General Ask At Order Questions (SNM/118185001), simplified to yes/no here since the paper form does not distinguish a neonatal case.0..1display
... SNM/598151000005105-genetic-haemGestation of pregnancy0..1integerDefinition: Observation.valueQuantity
Enable When: NOS/AntenatalPatient = true
.... SNM/598151000005105-genetic-haem-designNoteSame question (and code) as Patient gestation in NW Genomic General Ask At Order Questions (SNM/598151000005105) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content.0..1display
... LaboratoryResultsLaboratory Results0..1group
.... LN/718-7Hb (g/L)0..1quantityDefinition: Observation.valueQuantity
.... LN/789-8RBC (x10^12/L)0..1quantityDefinition: Observation.valueQuantity
.... LN/787-2MCV (fL)0..1quantityDefinition: Observation.valueQuantity
.... LN/785-6MCH (pg)0..1quantityDefinition: Observation.valueQuantity
.... LN/2276-4Ferritin (µg/L)0..1quantityDefinition: Observation.valueQuantity
.... NOS/HbA2PercentHb A2 (%)0..1quantityDefinition: Observation.valueQuantity
.... NOS/HbFPercentHb F (%)0..1quantityDefinition: Observation.valueQuantity
.... NOS/OtherHbPercentOther Hb (%)0..1quantityDefinition: Observation.valueQuantity
... RelativeOrPartnerRelative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy0..1group
.... NOS/RelativeOrPartnerReferenceName and DOB of relative/partner0..1referenceDefinition: ServiceRequest.supportingInfo
.... NOS/RelativeOrPartnerStatusStatus of relative/partner0..1choiceDefinition: Observation.valueCodeableConcept
Options: 2 options
.... NOS/RelativeOrPartnerVariantDetails of the relative/partner's variant, if known0..1stringDefinition: Observation.valueString

doco Documentation for this format

Options Sets

Answer options for HL7/OBR-4-h-genetic

  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R361.2
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R372.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.1
  • https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory#R93.2

Answer options for NOS/RelativeOrPartnerStatus

  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusAffected
  • https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA#GeneticStatusCarrier
 <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 **Request for Genetic Testing for Haemoglobinopathies** form (DOC4544), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Two things are distinctive here: prior full blood count/HPLC laboratory results are submitted *with* the request (used to interpret the genetic result, not produced by it), and a relative/partner's own affected/carrier status can be referenced to give a couple-specific pregnancy risk."/> <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="DoB"/> <type value="date"/> </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/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="Sex"/> <type value="choice"/> <answerValueSet value="http://hl7.org/fhir/ValueSet/administrative-gender"/> </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> <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"/> </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/country of origin"/> <type value="choice"/> <answerValueSet value="https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity"/> <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="LN/32624-9-designNote"/> <text value="The paper form's own section 3 uses a local A-H category scheme (Mixed/White/Mediterranean/Asian/South East Asian/Black/Arabic/Don't know, several free-text 'please specify country'), distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here. Same scheme as Prenatal Haemoglobinopathy's own equivalent field."/> <type value="display"/> </item> </item> </item> <item> <linkId value="HealthcareProfessional"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole"/> <text value="Referring Clinician"/> <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"/> <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"/> <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="Department"/> <type value="choice"/> <answerValueSet value="https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode"/> </item> <item> <linkId value="NOS/CopyReportTo"/> <text value="Copy 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/CopyReportTo-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)."/> <type value="display"/> </item> </item> <item> <linkId value="LN/81230-5"/> <definition value="http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value"/> <code> <system value="http://loinc.org"/> <code value="81230-5"/> </code> <text value="Telephone No"/> <type value="string"/> </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="Email"/> <type value="string"/> </item> </item> <item> <linkId value="HL7/OBR-4-h-genetic"/> <definition value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.code"/> <code> <system value="http://loinc.org"/> <code value="29300-1"/> </code> <text value="Test Code (Haemoglobinopathy)"/> <type value="choice"/> <required value="true"/> <repeats value="true"/> <answerOption> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="R361.1"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="R361.2"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="R372.1"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="R93.1"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory"/> <code value="R93.2"/> </valueCoding> </answerOption> </item> <item> <linkId value="NOS/AntenatalPatient"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean"/> <text value="Antenatal patient?"/> <type value="boolean"/> <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/AntenatalPatient-designNote"/> <text value="Same underlying question as Neonatal/Prenatal/Neither in NW Genomic General Ask At Order Questions (SNM/118185001), simplified to yes/no here since the paper form does not distinguish a neonatal case."/> <type value="display"/> </item> </item> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit"> <valueCoding> <system value="http://unitsofmeasure.org"/> <code value="wk"/> <display value="Wk"/> </valueCoding> </extension> <linkId value="SNM/598151000005105-genetic-haem"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://snomed.info/sct"/> <code value="57036006"/> <display value="Fetal gestational age"/> </code> <text value="Gestation of pregnancy"/> <type value="integer"/> <enableWhen> <question value="NOS/AntenatalPatient"/> <operator value="="/> <answerBoolean value="true"/> </enableWhen> <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="SNM/598151000005105-genetic-haem-designNote"/> <text value="Same question (and code) as Patient gestation in NW Genomic General Ask At Order Questions (SNM/598151000005105) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content."/> <type value="display"/> </item> </item> <item> <linkId value="LaboratoryResults"/> <text value="Laboratory Results"/> <type value="group"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit"> <valueCoding> <system value="http://unitsofmeasure.org"/> <code value="g/L"/> <display value="g/L"/> </valueCoding> </extension> <linkId value="LN/718-7"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://loinc.org"/> <code value="718-7"/> <display value="Hemoglobin [Mass/volume] in Blood"/> </code> <text value="Hb (g/L)"/> <type value="quantity"/> </item> <item> <linkId value="LN/789-8"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://loinc.org"/> <code value="789-8"/> <display value="Erythrocytes [#/volume] in Blood by Automated count"/> </code> <text value="RBC (x10^12/L)"/> <type value="quantity"/> </item> <item> <linkId value="LN/787-2"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://loinc.org"/> <code value="787-2"/> <display value="MCV [Entitic volume] by Automated count"/> </code> <text value="MCV (fL)"/> <type value="quantity"/> </item> <item> <linkId value="LN/785-6"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://loinc.org"/> <code value="785-6"/> <display value="MCH [Entitic mass] by Automated count"/> </code> <text value="MCH (pg)"/> <type value="quantity"/> </item> <item> <linkId value="LN/2276-4"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="http://loinc.org"/> <code value="2276-4"/> <display value="Ferritin [Mass/volume] in Serum or Plasma"/> </code> <text value="Ferritin (µg/L)"/> <type value="quantity"/> </item> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit"> <valueCoding> <system value="http://unitsofmeasure.org"/> <code value="%"/> <display value="%"/> </valueCoding> </extension> <linkId value="NOS/HbA2Percent"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="HbA2Percent"/> </code> <text value="Hb A2 (%)"/> <type value="quantity"/> </item> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit"> <valueCoding> <system value="http://unitsofmeasure.org"/> <code value="%"/> <display value="%"/> </valueCoding> </extension> <linkId value="NOS/HbFPercent"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="HbFPercent"/> </code> <text value="Hb F (%)"/> <type value="quantity"/> </item> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-unit"> <valueCoding> <system value="http://unitsofmeasure.org"/> <code value="%"/> <display value="%"/> </valueCoding> </extension> <linkId value="NOS/OtherHbPercent"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="OtherHbPercent"/> </code> <text value="Other Hb (%)"/> <type value="quantity"/> </item> </item> <item> <linkId value="RelativeOrPartner"/> <text value="Relative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy"/> <type value="group"/> <item> <extension url="http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile"> <valueCanonical value="http://hl7.org/fhir/StructureDefinition/RelatedPerson"/> </extension> <linkId value="NOS/RelativeOrPartnerReference"/> <definition value="http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo"/> <text value="Name and DOB of relative/partner"/> <type value="reference"/> </item> <item> <linkId value="NOS/RelativeOrPartnerStatus"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="RelativeOrPartnerStatus"/> </code> <text value="Status of relative/partner"/> <type value="choice"/> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="GeneticStatusAffected"/> </valueCoding> </answerOption> <answerOption> <valueCoding> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="GeneticStatusCarrier"/> </valueCoding> </answerOption> </item> <item> <linkId value="NOS/RelativeOrPartnerVariant"/> <definition value="http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString"/> <code> <system value="https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA"/> <code value="RelativeOrPartnerVariant"/> </code> <text value="Details of the relative/partner's variant, if known"/> <type value="string"/> </item> </item> </Questionnaire>