FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Questionnaire |
| Id | Questionnaire-GeneticReferralConsultand.json |
| FHIR Version | R4 |
| Source | https://build.fhir.org/ig/nw-gmsa/nw-gmsa.github.com/Questionnaire-GeneticReferralConsultand.html |
| URL | https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticReferralConsultand |
| Version | 2.2.0 |
| Status | draft |
| Date | 2026-09-27T08:17:18+00:00 |
| Title | Genetic Clinical Referral - Consultand (RelatedPerson) |
| Realm | us |
| Authority | hl7 |
| Description | **For analysis purposes only - not an active or planned project.** See [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for the common core this extends. Structured detail for a named **consultand** - an at-risk relative of the proband (the patient on the referral itself) being referred for genetic counselling and/or cascade testing - see [Genetic Referrals](GeneticReferrals.html) for the Proband/Consultand distinction. This represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to FHIR `RelatedPerson`. This is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html) (`NOS/RelatedIndividual`), generalised from this Questionnaire's own original Consultand-only shape - a **Role** item now states whether this entry is a **Consultand** (the usual case here) or a **Proband** (the reverse direction, used when the referral's own Patient is itself a family member rather than the proband - see [WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband` for the same pattern applied to a lab order rather than a referral). **Scope note:** general family history (who else is affected, the wider pedigree) remains in the unstructured family letter referenced from [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history) - this Questionnaire only structures the part of that information that identifies a *named* consultand who is themselves being referred, following the same shape as an `NK1` segment. |
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Note: links and images are rebased to the (stated) source
Generated Narrative: Questionnaire GeneticReferralConsultand
Profile: Questionnaire
| LinkID | Text | Cardinality | Type | Description & Constraints |
|---|---|---|---|---|
  | **For analysis purposes only - not an active or planned project.** See [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for the common core this extends. Structured detail for a named **consultand** - an at-risk relative of the proband (the patient on the referral itself) being referred for genetic counselling and/or cascade testing - see [Genetic Referrals](GeneticReferrals.html) for the Proband/Consultand distinction. This represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to FHIR `RelatedPerson`. This is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional Ask At Order Entry Questions - Related Individual (NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html) (`NOS/RelatedIndividual`), generalised from this Questionnaire's own original Consultand-only shape - a **Role** item now states whether this entry is a **Consultand** (the usual case here) or a **Proband** (the reverse direction, used when the referral's own Patient is itself a family member rather than the proband - see [WGS Local Test Order](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband` for the same pattern applied to a lab order rather than a referral). **Scope note:** general family history (who else is affected, the wider pedigree) remains in the unstructured family letter referenced from [Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history) - this Questionnaire only structures the part of that information that identifies a *named* consultand who is themselves being referred, following the same shape as an `NK1` segment. | Questionnaire | https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticReferralConsultand#2.2.0 | |
  NOS/RelatedIndividual | Related Individual (NK1) | 0..* | group | Definition: RelatedPerson |
   NOS/RelatedIndividual-designNote | Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here. | 0..1 | display | |
 NOS/RelatedIndividualRole | Role | 1..1 | choice | Options: 2 options |
 HL7/NK1-2 | Name | 1..1 | string | Definition: RelatedPerson.name |
| HL7/NK1-3 | Relationship to Proband | 1..1 | choice | Definition: RelatedPerson.relationship Value Set: UK Core Person Relationship Type |
 HL7/NK1-3-designNote | Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH "mother") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH "mother"), the same direction as when Role = Consultand. | 0..1 | display | |
| 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 referral's own Patient | 1..1 | reference | Definition: RelatedPerson.patient |
| NOS/RelatedIndividual-patient-designNote | The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order. | 0..1 | display | |
| Documentation for this format | ||||
Options Sets
Answer options for NOS/RelatedIndividualRole
FHIR
FHIRsmith{
"resourceType": "Questionnaire",
"id": "GeneticReferralConsultand",
"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/GeneticReferralConsultand",
"version": "2.2.0",
"title": "Genetic Clinical Referral - Consultand (RelatedPerson)",
"derivedFrom": [
"https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral"
],
"_derivedFrom": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-derivationType",
"valueCoding": {
"system": "http://hl7.org/fhir/questionnaire-derivationType",
"code": "extends"
}
}
]
}
],
"status": "draft",
"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.** See\n[Genetic Clinical Referral](Questionnaire-GeneticClinicalReferral.html) for\nthe common core this extends.\n\nStructured detail for a named **consultand** - an at-risk relative of the\nproband (the patient on the referral itself) being referred for genetic\ncounselling and/or cascade testing - see [Genetic\nReferrals](GeneticReferrals.html) for the Proband/Consultand distinction.\nThis represents HL7 v2 `NK1` (Next of Kin/Associated Parties), converted to\nFHIR `RelatedPerson`.\n\nThis is the same NK1-shaped `RelatedPerson` group as [WGS Test Additional\nAsk At Order Entry Questions - Related Individual\n(NK1)](Questionnaire-WGSTestAdditionalAskAtOrderQuestions.html)\n(`NOS/RelatedIndividual`), generalised from this Questionnaire's own\noriginal Consultand-only shape - a **Role** item now states whether this\nentry is a **Consultand** (the usual case here) or a **Proband** (the\nreverse direction, used when the referral's own Patient is itself a family\nmember rather than the proband - see [WGS Local Test\nOrder](Questionnaire-WGSLocalTestOrderAskAtOrderEntry.html)'s `NOS/Proband`\nfor the same pattern applied to a lab order rather than a referral).\n\n**Scope note:** general family history (who else is affected, the wider\npedigree) remains in the unstructured family letter referenced from [Genetic\nClinical Referral](Questionnaire-GeneticClinicalReferral.html#family-history)\n- this Questionnaire only structures the part of that information that\nidentifies a *named* consultand who is themselves being referred, following\nthe same shape as an `NK1` segment.",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "GB",
"display": "United Kingdom of Great Britain and Northern Ireland"
}
]
}
],
"item": [
{
"linkId": "NOS/RelatedIndividual",
"definition": "http://hl7.org/fhir/StructureDefinition/RelatedPerson#RelatedPerson",
"text": "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": "Generalised from this Questionnaire's original Consultand-only shape to match NW Genomic General Ask At Order Questions' own Related Individual (NK1) group - see Role below for what distinguishes a Consultand from a Proband here.",
"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"
}
},
{
"valueCoding": {
"system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/NWGMSA",
"code": "RoleProband"
}
}
]
},
{
"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 to Proband",
"type": "choice",
"required": true,
"answerValueSet": "https://fhir.hl7.org.uk/ValueSet/UKCore-PersonRelationshipType",
"item": [
{
"extension": [
{
"url": "http://hl7.org/fhir/StructureDefinition/questionnaire-itemControl",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/questionnaire-item-control",
"code": "help"
}
]
}
}
],
"linkId": "HL7/NK1-3-designNote",
"text": "Real examples in this IG currently code this with HL7 v3 RoleCode (e.g. MTH \"mother\") rather than UKCore-PersonRelationshipType - see RelatedPerson-MotherCerseiLondon. When Role = Proband, this is still the family member's relationship to the proband (e.g. the family member is the proband's MTH \"mother\"), the same direction as when Role = Consultand.",
"type": "display"
}
]
},
{
"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 referral's own Patient",
"type": "reference",
"required": 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-patient-designNote",
"text": "The same Patient as Genetic Clinical Referral's own Patient group. When Role = Consultand, that Patient is the proband and this group names a relative of theirs - the usual case for this Questionnaire. When Role = Proband, that Patient is instead a family member, and this group names the original proband - the same reversal WGS Local Test Order's NOS/Proband uses on a lab order.",
"type": "display"
}
]
}
]
}
]
}