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

Generated Narrative: Questionnaire HaemoglobinopathyGeneticAskAtOrderEntry

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
LinkIDTextCardinalityTypeDescription & Constraints\"doco\"
\".\"\".\" **For analysis purposes only - not an active or planned project.**\n\n**Ask At Order Entry Questions** for the NW GLH paper **Request for Genetic\nTesting for Haemoglobinopathies** form (DOC4544), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Two\nthings are distinctive here: prior full blood count/HPLC laboratory results\nare submitted *with* the request (used to interpret the genetic result, not\nproduced by it), and a relative/partner's own affected/carrier status can be\nreferenced 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

Answer options for NOS/RelativeOrPartnerStatus

" }, "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/HaemoglobinopathyGeneticAskAtOrderEntry", "version" : "2.2.0", "title" : "Haemoglobinopathy Genetic Testing Ask At Order Entry Questions", "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 NW GLH paper **Request for Genetic\nTesting for Haemoglobinopathies** form (DOC4544), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). Two\nthings are distinctive here: prior full blood count/HPLC laboratory results\nare submitted *with* the request (used to interpret the genetic result, not\nproduced by it), and a relative/partner's own affected/carrier status can be\nreferenced to give a couple-specific pregnancy risk.", "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 Details", "type" : "group", "item" : [{ "linkId" : "LN/45394-4", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.family", "code" : [{ "system" : "http://loinc.org", "code" : "45394-4" }], "text" : "Surname", "type" : "string" }, { "linkId" : "LN/45392-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.name.given", "code" : [{ "system" : "http://loinc.org", "code" : "45392-8" }], "text" : "Forename", "type" : "string" }, { "linkId" : "LN/21112-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.birthDate", "code" : [{ "system" : "http://loinc.org", "code" : "21112-8" }], "text" : "DoB", "type" : "date" }, { "linkId" : "LN/89061-6", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber", "code" : [{ "system" : "http://loinc.org", "code" : "89061-6" }], "text" : "NHS No", "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", "type" : "choice", "answerValueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, { "linkId" : "LN/76435-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:MedicalRecordNumber", "code" : [{ "system" : "http://loinc.org", "code" : "76435-7" }], "text" : "Hospital No", "type" : "string" }, { "linkId" : "LN/56799-0", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.address.line", "code" : [{ "system" : "http://loinc.org", "code" : "56799-0" }], "text" : "Address", "type" : "string" }, { "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/32624-9", "definition" : "http://hl7.org/fhir/StructureDefinition/Patient#Patient.extension:ethnicCategory", "code" : [{ "system" : "http://loinc.org", "code" : "32624-9" }], "text" : "Ethnicity/country of origin", "type" : "choice", "answerValueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/ethnicity", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "LN/32624-9-designNote", "text" : "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" : "display" }] }] }, { "linkId" : "HealthcareProfessional", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole", "text" : "Referring Clinician", "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" : "Consultant", "type" : "string" }, { "linkId" : "HL7/ORC-21", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value", "text" : "Hospital", "type" : "string" }, { "linkId" : "LN/18707-0", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.specialty.coding.code", "code" : [{ "system" : "http://loinc.org", "code" : "18707-0" }], "text" : "Department", "type" : "choice", "answerValueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode" }, { "linkId" : "NOS/CopyReportTo", "text" : "Copy report to", "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/CopyReportTo-designNote", "text" : "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" : "display" }] }, { "linkId" : "LN/81230-5", "definition" : "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value", "code" : [{ "system" : "http://loinc.org", "code" : "81230-5" }], "text" : "Telephone No", "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" : "HL7/OBR-4-h-genetic", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.code", "code" : [{ "system" : "http://loinc.org", "code" : "29300-1" }], "text" : "Test Code (Haemoglobinopathy)", "type" : "choice", "required" : true, "repeats" : true, "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R361.1" } }, { "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R361.2" } }, { "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R372.1" } }, { "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R93.1" } }, { "valueCoding" : { "system" : "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code" : "R93.2" } }] }, { "linkId" : "NOS/AntenatalPatient", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueBoolean", "text" : "Antenatal patient?", "type" : "boolean", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "NOS/AntenatalPatient-designNote", "text" : "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" : "display" }] }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding" : { "system" : "http://unitsofmeasure.org", "code" : "wk", "display" : "Wk" } }], "linkId" : "SNM/598151000005105-genetic-haem", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://snomed.info/sct", "code" : "57036006", "display" : "Fetal gestational age" }], "text" : "Gestation of pregnancy", "type" : "integer", "enableWhen" : [{ "question" : "NOS/AntenatalPatient", "operator" : "=", "answerBoolean" : true }], "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl", "valueCodeableConcept" : { "coding" : [{ "system" : "http://hl7.org/fhir/questionnaire-item-control", "code" : "help" }] } }], "linkId" : "SNM/598151000005105-genetic-haem-designNote", "text" : "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" : "display" }] }, { "linkId" : "LaboratoryResults", "text" : "Laboratory Results", "type" : "group", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding" : { "system" : "http://unitsofmeasure.org", "code" : "g/L", "display" : "g/L" } }], "linkId" : "LN/718-7", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://loinc.org", "code" : "718-7", "display" : "Hemoglobin [Mass/volume] in Blood" }], "text" : "Hb (g/L)", "type" : "quantity" }, { "linkId" : "LN/789-8", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://loinc.org", "code" : "789-8", "display" : "Erythrocytes [#/volume] in Blood by Automated count" }], "text" : "RBC (x10^12/L)", "type" : "quantity" }, { "linkId" : "LN/787-2", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://loinc.org", "code" : "787-2", "display" : "MCV [Entitic volume] by Automated count" }], "text" : "MCV (fL)", "type" : "quantity" }, { "linkId" : "LN/785-6", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://loinc.org", "code" : "785-6", "display" : "MCH [Entitic mass] by Automated count" }], "text" : "MCH (pg)", "type" : "quantity" }, { "linkId" : "LN/2276-4", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "http://loinc.org", "code" : "2276-4", "display" : "Ferritin [Mass/volume] in Serum or Plasma" }], "text" : "Ferritin (µg/L)", "type" : "quantity" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding" : { "system" : "http://unitsofmeasure.org", "code" : "%", "display" : "%" } }], "linkId" : "NOS/HbA2Percent", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "HbA2Percent" }], "text" : "Hb A2 (%)", "type" : "quantity" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding" : { "system" : "http://unitsofmeasure.org", "code" : "%", "display" : "%" } }], "linkId" : "NOS/HbFPercent", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "HbFPercent" }], "text" : "Hb F (%)", "type" : "quantity" }, { "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-unit", "valueCoding" : { "system" : "http://unitsofmeasure.org", "code" : "%", "display" : "%" } }], "linkId" : "NOS/OtherHbPercent", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueQuantity", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "OtherHbPercent" }], "text" : "Other Hb (%)", "type" : "quantity" }] }, { "linkId" : "RelativeOrPartner", "text" : "Relative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy", "type" : "group", "item" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile", "valueCanonical" : "http://hl7.org/fhir/StructureDefinition/RelatedPerson" }], "linkId" : "NOS/RelativeOrPartnerReference", "definition" : "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.supportingInfo", "text" : "Name and DOB of relative/partner", "type" : "reference" }, { "linkId" : "NOS/RelativeOrPartnerStatus", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueCodeableConcept", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RelativeOrPartnerStatus" }], "text" : "Status of relative/partner", "type" : "choice", "answerOption" : [{ "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "GeneticStatusAffected" } }, { "valueCoding" : { "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "GeneticStatusCarrier" } }] }, { "linkId" : "NOS/RelativeOrPartnerVariant", "definition" : "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueString", "code" : [{ "system" : "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA", "code" : "RelativeOrPartnerVariant" }], "text" : "Details of the relative/partner's variant, if known", "type" : "string" }] }] }