FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-HaemoglobinopathyPrenatalAskAtOrderEntry.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-HaemoglobinopathyPrenatalAskAtOrderEntry.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyPrenatalAskAtOrderEntry |
| Version | 2.2.0 |
| Status | unknown |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | Prenatal Haemoglobinopathy Ask At Order Entry Questions |
| Realm | us |
| Authority | hl7 |
| Description | **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Request for Prenatal Diagnosis of Haemoglobinopathies** form (DOC4544), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form is unusual among the paper forms in naming **two** patients (maternal and paternal) rather than one - the common core's own Patient group is completed for the mother (the referral's own registered patient - not a "proband" in the classical sense, since prenatal carrier testing doesn't imply an already-affected index case), and this Questionnaire adds a reference to the father via the same NK1-shaped `RelatedPerson` group as [WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html). |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire HaemoglobinopathyPrenatalAskAtOrderEntry
Profile: Questionnaire
| LinkID | Text | Cardinality | Type | Description & Constraints |
|---|---|---|---|---|
  | **For analysis purposes only - not an active or planned project.** **Ask At Order Entry Questions** for the NW GLH paper **Request for Prenatal Diagnosis of Haemoglobinopathies** form (DOC4544), used alongside the [common core order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry Questions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This form is unusual among the paper forms in naming **two** patients (maternal and paternal) rather than one - the common core's own Patient group is completed for the mother (the referral's own registered patient - not a "proband" in the classical sense, since prenatal carrier testing doesn't imply an already-affected index case), and this Questionnaire adds a reference to the father via the same NK1-shaped `RelatedPerson` group as [WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html). | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyPrenatalAskAtOrderEntry#2.2.0 | |
  Patient | Maternal Details | 0..1 | group | Definition: Patient |
  LN/45394-4 | Surname | 0..1 | string | Definition: Patient.name.family |
| LN/45392-8 | Forename | 0..1 | string | Definition: Patient.name.given |
 LN/21112-8 | DoB | 0..1 | date | Definition: Patient.birthDate |
| LN/89061-6-patient | NHS No | 0..1 | string | Definition: Patient.identifier:nhsNumber |
  LN/89061-6-patient-designNote | Distinct linkId from NOS/RelatedIndividual's own NHS Number (if known) item below (LN/89061-6) - that one is the father's, this is the mother's (this order's own Patient). | 0..1 | display | |
 LN/46098-0 | Sex | 0..1 | choice | Definition: Patient.gender Value Set: AdministrativeGender |
| LN/76435-7-patient | Hospital No | 0..1 | string | Definition: Patient.identifier:MedicalRecordNumber |
| LN/56799-0 | Address | 0..1 | string | Definition: Patient.address.line |
| LN/45401-7 | Postcode | 0..1 | string | Definition: Patient.address.postalCode |
| LN/32624-9 | Ethnicity/country of origin | 0..1 | choice | Definition: Patient.extension:ethnicCategory Value Set: Ethnicity |
| LN/32624-9-designNote | The paper form's own section 5 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') for both maternal and paternal ethnicity, distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here. | 0..1 | display | |
| NOS/GPNameAndAddress | GP name and address | 0..1 | string | |
| HealthcareProfessional | Referring Clinician | 0..1 | group | Definition: PractitionerRole |
| LN/18705-4 | Referred by | 0..1 | string | Definition: PractitionerRole.practitioner.display |
| HL7/ORC-21 | Hospital/Department/Address | 0..1 | string | Definition: PractitionerRole.organization.identifier.value |
| NOS/ReportTo | Report to | 0..1 | string | |
| LN/89058-2 | 0..1 | string | Definition: PractitionerRole.telecom.value | |
| LN/81230-5 | Telephone number | 0..1 | string | Definition: PractitionerRole.telecom.value |
| NOS/CopyReportTo | Copy report to | 0..1 | string | |
 NOS/CopyReportTo-designNote | 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). | 0..1 | display | |
| AskAtOrderEntry | Ask At Order Entry Questions | 0..1 | group | |
| NOS/RelatedIndividual | Paternal details (Related Individual, NK1) | 0..* | group | Definition: RelatedPerson |
| NOS/RelatedIndividual-designNote | Same NK1-shaped RelatedPerson group as NW Genomic General Ask At Order Questions' own Related Individual (NK1) group (NOS/RelatedIndividual) and Genetic Clinical Referral - Consultand, used here under its Consultand role - the mother remains this ServiceRequest's own subject throughout, unlike WGS Local Test Order's NOS/Proband, so there is no pathway where the roles swap. RelatedPerson.identifier already accommodates the father's own NHS/hospital number when known, the same paper-form fields previously modelled as a full Patient reference - no detail is lost by using the shared shape instead. | 0..1 | display | |
| NOS/RelatedIndividualRole | Role | 1..1 | choice | Options: 1 option |
| HL7/NK1-2 | Name | 1..1 | string | Definition: RelatedPerson.name |
| HL7/NK1-3 | Relationship | 1..1 | choice | Definition: RelatedPerson.relationship Value Set: UK Core Person Relationship Type |
| HL7/NK1.15 | Administrative Sex | 0..1 | choice | Definition: RelatedPerson.gender Value Set: AdministrativeGender |
| HL7/NK1-16 | Date of Birth | 0..1 | date | Definition: RelatedPerson.birthDate |
| LN/89061-6 | NHS Number (if known) | 0..1 | string | Definition: RelatedPerson.identifier:nhsNumber |
| LN/76435-7 | Hospital Number (Medical Record Number), if known | 0..1 | string | Definition: RelatedPerson.identifier:MedicalRecordNumber |
 NOS/RelatedIndividual-patient | This order's own Patient (the mother) | 1..1 | reference | Definition: RelatedPerson.patient |
| NOS/ParentalGenotypesReason | Parental genotypes/reason for referral | 0..1 | string | Definition: ServiceRequest.reasonCode.text |
 SNM/598151000005105-prenatal-haem | Gestation of pregnancy | 0..1 | integer | Definition: Observation.valueQuantity |
| SNM/598151000005105-prenatal-haem-designNote | 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. | 0..1 | display | |
| SNM/161714006-prenatal-haem | Estimated date of delivery (EDD) | 0..1 | date | Definition: Observation.valueDateTime |
| SNM/161714006-prenatal-haem-designNote | Same question (and code) as Patient expected delivery date in NW Genomic General Ask At Order Questions (SNM/161714006) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content. | 0..1 | display | |
 NOS/FetalSampleTaken | Date fetal sample taken and sample type | 0..1 | dateTime | Definition: Specimen.collection.collectedDateTime |
| Documentation for this format | ||||
Options Sets
Answer options for NOS/RelatedIndividualRole
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "HaemoglobinopathyPrenatalAskAtOrderEntry",
"meta": {
"profile": [
"https://fhir.nwgenomics.nhs.uk/StructureDefinition/NWQuestionnaire"
]
},
"text": {
"status": "extensions",
"div": "<!-- snip (see above) -->"
},
"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/HaemoglobinopathyPrenatalAskAtOrderEntry",
"version": "2.2.0",
"title": "Prenatal Haemoglobinopathy Ask At Order Entry Questions",
"status": "unknown",
"date": "2026-09-27T08:17:18+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 Prenatal\nDiagnosis of Haemoglobinopathies** form (DOC4544), used alongside the [common\ncore order form](Questionnaire-GenomicTestOrder.html) - see [Order Entry\nQuestions](Questionnaire-GenomicTestOrder.html#order-entry-questions). This\nform is unusual among the paper forms in naming **two** patients (maternal\nand paternal) rather than one - the common core's own Patient group is\ncompleted for the mother (the referral's own registered patient - not a\n\"proband\" in the classical sense, since prenatal carrier testing doesn't\nimply an already-affected index case), and this Questionnaire adds a\nreference to the father via the same NK1-shaped `RelatedPerson` group as\n[WGS Test Additional Ask At Order Entry Questions - Related Individual\n(NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html).",
"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": "Maternal 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-patient",
"definition": "http://hl7.org/fhir/StructureDefinition/Patient#Patient.identifier:nhsNumber",
"code": [
{
"system": "http://loinc.org",
"code": "89061-6"
}
],
"text": "NHS No",
"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-patient-designNote",
"text": "Distinct linkId from NOS/RelatedIndividual's own NHS Number (if known) item below (LN/89061-6) - that one is the father's, this is the mother's (this order's own Patient).",
"type": "display"
}
]
},
{
"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-patient",
"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 5 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') for both maternal and paternal ethnicity, distinct from - and not yet mapped to - this IG's own Ethnicity ValueSet used here.",
"type": "display"
}
]
},
{
"linkId": "NOS/GPNameAndAddress",
"text": "GP name and address",
"type": "string"
}
]
},
{
"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": "Referred by",
"type": "string"
},
{
"linkId": "HL7/ORC-21",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.organization.identifier.value",
"text": "Hospital/Department/Address",
"type": "string"
},
{
"linkId": "NOS/ReportTo",
"text": "Report to",
"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": "LN/81230-5",
"definition": "http://hl7.org/fhir/StructureDefinition/PractitionerRole#PractitionerRole.telecom.value",
"code": [
{
"system": "http://loinc.org",
"code": "81230-5"
}
],
"text": "Telephone number",
"type": "string"
},
{
"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": "AskAtOrderEntry",
"text": "Ask At Order Entry Questions",
"type": "group",
"item": [
{
"linkId": "NOS/RelatedIndividual",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson",
"text": "Paternal details (Related Individual, NK1)",
"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": "NOS/RelatedIndividual-designNote",
"text": "Same NK1-shaped RelatedPerson group as NW Genomic General Ask At\nOrder Questions' own Related Individual (NK1) group\n(NOS/RelatedIndividual) and Genetic Clinical Referral - Consultand,\nused here under its Consultand role - the mother remains this\nServiceRequest's own subject throughout, unlike WGS Local Test\nOrder's NOS/Proband, so there is no pathway where the roles swap.\nRelatedPerson.identifier already accommodates the father's own\nNHS/hospital number when known, the same paper-form fields\npreviously modelled as a full Patient reference - no detail is lost\nby using the shared shape instead.",
"type": "display"
},
{
"linkId": "NOS/RelatedIndividualRole",
"code": [
{
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RelatedIndividualRole"
}
],
"text": "Role",
"type": "choice",
"required": true,
"answerOption": [
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RoleConsultand"
}
}
]
},
{
"linkId": "HL7/NK1-2",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.name",
"text": "Name",
"type": "string",
"required": true
},
{
"linkId": "HL7/NK1-3",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.relationship",
"text": "Relationship",
"type": "choice",
"required": true,
"answerValueSet": "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType"
},
{
"linkId": "HL7/NK1.15",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.gender",
"text": "Administrative Sex",
"type": "choice",
"answerValueSet": "http://hl7.org/fhir/ValueSet/administrative-gender"
},
{
"linkId": "HL7/NK1-16",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.birthDate",
"text": "Date of Birth",
"type": "date"
},
{
"linkId": "LN/89061-6",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:nhsNumber",
"code": [
{
"system": "http://loinc.org",
"code": "89061-6"
}
],
"text": "NHS Number (if known)",
"type": "string",
"required": false
},
{
"linkId": "LN/76435-7",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.identifier:MedicalRecordNumber",
"code": [
{
"system": "http://loinc.org",
"code": "76435-7"
}
],
"text": "Hospital Number (Medical Record Number), if known",
"type": "string",
"required": false
},
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-referenceProfile",
"valueCanonical": "http://hl7.org/fhir/StructureDefinition/Patient"
}
],
"linkId": "NOS/RelatedIndividual-patient",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson.patient",
"text": "This order's own Patient (the mother)",
"type": "reference",
"required": true
}
]
},
{
"linkId": "NOS/ParentalGenotypesReason",
"definition": "http://hl7.org/fhir/StructureDefinition/ServiceRequest#ServiceRequest.reasonCode.text",
"text": "Parental genotypes/reason for referral",
"type": "string"
},
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-unit",
"valueCoding": {
"system": "http://unitsofmeasure.org",
"code": "wk",
"display": "Wk"
}
}
],
"linkId": "SNM/598151000005105-prenatal-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",
"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-prenatal-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": "SNM/161714006-prenatal-haem",
"definition": "http://hl7.org/fhir/StructureDefinition/Observation#Observation.valueDateTime",
"code": [
{
"system": "http://snomed.info/sct",
"code": "161714006",
"display": "Estimated date of delivery"
}
],
"text": "Estimated date of delivery (EDD)",
"type": "date",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "SNM/161714006-prenatal-haem-designNote",
"text": "Same question (and code) as Patient expected delivery date in NW Genomic General Ask At Order Questions (SNM/161714006) - repeated here because exactly one Ask At Order Entry Questionnaire applies per order, not because this is new content.",
"type": "display"
}
]
},
{
"linkId": "NOS/FetalSampleTaken",
"definition": "http://hl7.org/fhir/StructureDefinition/Specimen#Specimen.collection.collectedDateTime",
"text": "Date fetal sample taken and sample type",
"type": "dateTime"
}
]
}
]
}