FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-HaemoglobinopathyGeneticAskAtOrderEntry.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-HaemoglobinopathyGeneticAskAtOrderEntry.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyGeneticAskAtOrderEntry |
| Version | 2.2.0 |
| Status | unknown |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | Haemoglobinopathy Genetic Testing 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 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. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire HaemoglobinopathyGeneticAskAtOrderEntry
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 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. | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/HaemoglobinopathyGeneticAskAtOrderEntry#2.2.0 | |
  Patient | Patient 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 | NHS No | 0..1 | string | Definition: Patient.identifier:nhsNumber |
 LN/46098-0 | Sex | 0..1 | choice | Definition: Patient.gender Value Set: AdministrativeGender |
| LN/76435-7 | 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 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..1 | display | |
| HealthcareProfessional | Referring Clinician | 0..1 | group | Definition: PractitionerRole |
| LN/18705-4 | Consultant | 0..1 | string | Definition: PractitionerRole.practitioner.display |
| HL7/ORC-21 | Hospital | 0..1 | string | Definition: PractitionerRole.organization.identifier.value |
| LN/18707-0 | Department | 0..1 | choice | Definition: PractitionerRole.specialty.coding.code Value Set: UK Core Practice Setting Code |
| 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 | |
| LN/81230-5 | Telephone No | 0..1 | string | Definition: PractitionerRole.telecom.value |
| LN/89058-2 | 0..1 | string | Definition: PractitionerRole.telecom.value | |
| HL7/OBR-4-h-genetic | Test Code (Haemoglobinopathy) | 1..* | choice | Definition: ServiceRequest.code Options: 5 options |
 NOS/AntenatalPatient | Antenatal patient? | 0..1 | boolean | Definition: Observation.valueBoolean |
| NOS/AntenatalPatient-designNote | 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. | 0..1 | display | |
 SNM/598151000005105-genetic-haem | Gestation of pregnancy | 0..1 | integer | Definition: Observation.valueQuantity Enable When: NOS/AntenatalPatient = true |
| SNM/598151000005105-genetic-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 | |
| LaboratoryResults | Laboratory Results | 0..1 | group | |
 LN/718-7 | Hb (g/L) | 0..1 | quantity | Definition: Observation.valueQuantity |
| LN/789-8 | RBC (x10^12/L) | 0..1 | quantity | Definition: Observation.valueQuantity |
| LN/787-2 | MCV (fL) | 0..1 | quantity | Definition: Observation.valueQuantity |
| LN/785-6 | MCH (pg) | 0..1 | quantity | Definition: Observation.valueQuantity |
| LN/2276-4 | Ferritin (µg/L) | 0..1 | quantity | Definition: Observation.valueQuantity |
| NOS/HbA2Percent | Hb A2 (%) | 0..1 | quantity | Definition: Observation.valueQuantity |
| NOS/HbFPercent | Hb F (%) | 0..1 | quantity | Definition: Observation.valueQuantity |
| NOS/OtherHbPercent | Other Hb (%) | 0..1 | quantity | Definition: Observation.valueQuantity |
| RelativeOrPartner | Relative/Partner of a patient who is affected with, or a carrier of, a haemoglobinopathy | 0..1 | group | |
 NOS/RelativeOrPartnerReference | Name and DOB of relative/partner | 0..1 | reference | Definition: ServiceRequest.supportingInfo |
| NOS/RelativeOrPartnerStatus | Status of relative/partner | 0..1 | choice | Definition: Observation.valueCodeableConcept Options: 2 options |
| NOS/RelativeOrPartnerVariant | Details of the relative/partner's variant, if known | 0..1 | string | Definition: Observation.valueString |
| Documentation for this format | ||||
Options Sets
Answer options for HL7/OBR-4-h-genetic
Answer options for NOS/RelativeOrPartnerStatus
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "HaemoglobinopathyGeneticAskAtOrderEntry",
"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/HaemoglobinopathyGeneticAskAtOrderEntry",
"version": "2.2.0",
"title": "Haemoglobinopathy Genetic Testing 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 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"
}
]
}
]
}