{ "resourceType" : "StructureDefinition", "id" : "GeneticClinicalReferral", "language" : "en", "text" : { "status" : "extensions", "div" : "

Generated Narrative: StructureDefinition GeneticClinicalReferral

\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
NameFlagsCard.TypeDescription & Constraints\"doco\"
\"\"\"\" GeneticClinicalReferral 0..*BaseGenetic Clinical Referral
Instances of this type can be the target of a Reference
\"\"\"\"\"\" GeneticClinicalReferral.referralIdentifier 1..1OrderIdentifierReferral Identifier
\"\"\"\"\"\" GeneticClinicalReferral.status 1..1codeReferral Status
Binding: RequestStatus (required)
\"\"\"\"\"\" GeneticClinicalReferral.priority 0..1codePriority
Binding: Request Priority (required)
\"\"\"\"\"\" GeneticClinicalReferral.dateOfReferral 0..1dateTimeDate of referral
\"\"\"\"\"\" GeneticClinicalReferral.patient 1..1BackboneElementPatient
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.nhsNumber 0..1NHSIdentifierNHS Number
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.medicalRecordNumber 0..1MedicalRecordNumberHospital Number (Medical Record Number)
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.familyName 1..1stringPatient surname
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.givenName 1..1stringPatient first name
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.birthDate 1..1dateDate of birth
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.address 0..1AddressAddress
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.sexRegisteredAtBirth 0..1codeSex registered at birth
Binding: AdministrativeGender (required)
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.accountNumber 0..1HospitalProviderSpellIdentifierAccount Number (Episode or Stay Number)
\"\"\"\"\"\"\"\" GeneticClinicalReferral.patient.pedigreeNumber 0..1stringG Number (Pedigree Number)
\"\"\"\"\"\" GeneticClinicalReferral.referrer 1..1BackboneElementReferring Provider
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.name 1..1stringReferring Clinician Name
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.specialty 0..1CodeableConceptReferring Clinician Current Speciality
Binding: UK Core Practice Setting Code (extensible)
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.professionalIdentifier 0..1PractitionerIdentifierReferring Clinician Professional Identifier
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.email 0..*stringEmail
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.phone 0..1stringPhone
\"\"\"\"\"\"\"\" GeneticClinicalReferral.referrer.organisation 0..1OrganisationCodeReferring Organisation
\"\"\"\"\"\" GeneticClinicalReferral.recipient 0..1BackboneElementReferred-to Provider/Service
\"\"\"\"\"\"\"\" GeneticClinicalReferral.recipient.service 0..1stringReferred-to Service/Clinic Name
\"\"\"\"\"\"\"\" GeneticClinicalReferral.recipient.organisation 0..1OrganisationCodeReferred-to Organisation
\"\"\"\"\"\"\"\" GeneticClinicalReferral.recipient.clinician 0..1stringNamed Consultant/Clinician (if known)
\"\"\"\"\"\" GeneticClinicalReferral.serviceRequested 1..1CodeableConceptReferral Type / Service Requested
Required Pattern: 
{\n  "coding" : [\n    {\n      "system" : "http://snomed.info/sct",\n      "code" : "306119003"\n    }\n  ]\n}
\"\"\"\"\"\" GeneticClinicalReferral.reasonForReferral 0..*CodeableConceptReason for referral
Binding: Genomic Clinical Indication Codes (extensible)
\"\"\"\"\"\" GeneticClinicalReferral.clinicalInformation 0..1stringClinical details
\"\"\"\"\"\" GeneticClinicalReferral.forms 0..*Reference(QuestionnaireResponse)Referral forms
\"\"\"\"\"\" GeneticClinicalReferral.consultand 0..*Reference(RelatedPerson)Consultand
\"\"\"\"\"\" GeneticClinicalReferral.pathologyReport 0..*Reference(DocumentReference | Bundle)Pathology report
\"\"\"\"\"\" GeneticClinicalReferral.patientSummary 0..1Reference(DocumentReference | Bundle)Patient summary
\"\"\"\"\"\" GeneticClinicalReferral.familyHistory 0..*Reference(FamilyMemberHistory | DocumentReference | Bundle)Family history

\"doco\" Documentation for this format
" }, "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-type-characteristics", "valueCode" : "can-be-target" }], "url" : "https://fhir.nwgenomics.nhs.uk/StructureDefinition/GeneticClinicalReferral", "version" : "2.2.5", "name" : "GeneticClinicalReferralModel", "title" : "Genetic Clinical Referral", "status" : "draft", "date" : "2026-11-05T06:40:21+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.** This referral is not\nexpected to be implemented within this IG; it is expected to be implemented via a\nGenomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic\nOrder Management Service.\n\nA closed-loop clinical referral into a genomics/clinical genetics service (see\n[Genetic Referrals](GeneticReferrals.html)), modelled on the IHE 360X HL7 v2 referral\norder `OMG^O19` with `OSU^O51` status updates (see [Referral Request [PCC-55]](PCC-55.html)) -\nnot a laboratory order. The referral itself stays small: clinical content\ntravels as forms, clinical documents (pathology report, patient summary) and family\nhistory referenced from the referral.\n\nThis is a logical model - it is not exchanged as is. It breaks down into\n`ServiceRequest`, `Patient`, `PractitionerRole`, `Organization`, `HealthcareService`,\n`QuestionnaireResponse`, `RelatedPerson`, `Observation` and clinical documents\n(`DocumentReference` or a FHIR Document `Bundle`).", "jurisdiction" : [{ "coding" : [{ "system" : "urn:iso:std:iso:3166", "code" : "GB", "display" : "United Kingdom of Great Britain and Northern Ireland" }] }], "fhirVersion" : "4.0.1", "mapping" : [{ "identity" : "hl7v2", "uri" : "http://hl7.org/v2", "name" : "HL7 v2 OMG_O19 / OSU_O51 (IHE 360X)" }, { "identity" : "fhir", "uri" : "https://fhir.nwgenomics.nhs.uk", "name" : "FHIR (this IG)" }, { "identity" : "questionnaire", "uri" : "https://fhir.nwgenomics.nhs.uk/Questionnaire/GeneticClinicalReferral", "name" : "Questionnaire (linkId)" }], "kind" : "logical", "abstract" : false, "type" : "https://fhir.nwgenomics.nhs.uk/StructureDefinition/GeneticClinicalReferral", "baseDefinition" : "http://hl7.org/fhir/StructureDefinition/Base", "derivation" : "specialization", "snapshot" : { "extension" : [{ "url" : "http://hl7.org/fhir/tools/StructureDefinition/snapshot-base-version", "valueString" : "4.0.1" }], "element" : [{ "id" : "GeneticClinicalReferral", "path" : "GeneticClinicalReferral", "short" : "Genetic Clinical Referral", "definition" : "**For analysis purposes only - not an active or planned project.** This referral is not\nexpected to be implemented within this IG; it is expected to be implemented via a\nGenomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic\nOrder Management Service.\n\nA closed-loop clinical referral into a genomics/clinical genetics service (see\n[Genetic Referrals](GeneticReferrals.html)), modelled on the IHE 360X HL7 v2 referral\norder `OMG^O19` with `OSU^O51` status updates (see [Referral Request [PCC-55]](PCC-55.html)) -\nnot a laboratory order. The referral itself stays small: clinical content\ntravels as forms, clinical documents (pathology report, patient summary) and family\nhistory referenced from the referral.\n\nThis is a logical model - it is not exchanged as is. It breaks down into\n`ServiceRequest`, `Patient`, `PractitionerRole`, `Organization`, `HealthcareService`,\n`QuestionnaireResponse`, `RelatedPerson`, `Observation` and clinical documents\n(`DocumentReference` or a FHIR Document `Bundle`).", "min" : 0, "max" : "*", "base" : { "path" : "Base", "min" : 0, "max" : "*" }, "isModifier" : false }, { "id" : "GeneticClinicalReferral.referralIdentifier", "path" : "GeneticClinicalReferral.referralIdentifier", "short" : "Referral Identifier", "definition" : "Originating referral identifier, assigned by the referrer and used in every message", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referralIdentifier", "min" : 1, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrderIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-2 / OBR-2" }, { "identity" : "fhir", "map" : "ServiceRequest.identifier[OrderIdentifier]" }, { "identity" : "questionnaire", "map" : "HL7/ORC-2" }] }, { "id" : "GeneticClinicalReferral.status", "path" : "GeneticClinicalReferral.status", "short" : "Referral Status", "definition" : "e.g. active, completed, revoked", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.status", "min" : 1, "max" : "1" }, "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "http://hl7.org/fhir/ValueSet/request-status" }, "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-1 / ORC-5 (OMG^O19 ORC-1 NW; status changes in OSU^O51)" }, { "identity" : "fhir", "map" : "ServiceRequest.status" }, { "identity" : "questionnaire", "map" : "HL7/ORC-5" }] }, { "id" : "GeneticClinicalReferral.priority", "path" : "GeneticClinicalReferral.priority", "short" : "Priority", "definition" : "Urgency of the referral", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.priority", "min" : 0, "max" : "1" }, "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/RequestPriority" }, "mapping" : [{ "identity" : "hl7v2", "map" : "TQ1-9" }, { "identity" : "fhir", "map" : "ServiceRequest.priority" }, { "identity" : "questionnaire", "map" : "LN/82768-3" }] }, { "id" : "GeneticClinicalReferral.dateOfReferral", "path" : "GeneticClinicalReferral.dateOfReferral", "short" : "Date of referral", "definition" : "When the referral was made", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.dateOfReferral", "min" : 0, "max" : "1" }, "type" : [{ "code" : "dateTime" }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-9" }, { "identity" : "fhir", "map" : "ServiceRequest.authoredOn" }] }, { "id" : "GeneticClinicalReferral.patient", "path" : "GeneticClinicalReferral.patient", "short" : "Patient", "definition" : "The proband. Same items as Genomic Test Order's patient.", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient", "min" : 1, "max" : "1" }, "type" : [{ "code" : "BackboneElement" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID" }, { "identity" : "fhir", "map" : "ServiceRequest.subject (Patient)" }, { "identity" : "questionnaire", "map" : "Patient" }] }, { "id" : "GeneticClinicalReferral.patient.id", "path" : "GeneticClinicalReferral.patient.id", "representation" : ["xmlAttr"], "short" : "Unique id for inter-element referencing", "definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.", "min" : 0, "max" : "1", "base" : { "path" : "Element.id", "min" : 0, "max" : "1" }, "type" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type", "valueUrl" : "string" }], "code" : "http://hl7.org/fhirpath/System.String" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.patient.extension", "path" : "GeneticClinicalReferral.patient.extension", "slicing" : { "discriminator" : [{ "type" : "value", "path" : "url" }], "description" : "Extensions are always sliced by (at least) url", "rules" : "open" }, "short" : "Additional content defined by implementations", "definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias" : ["extensions", "user content"], "min" : 0, "max" : "*", "base" : { "path" : "Element.extension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.patient.modifierExtension", "path" : "GeneticClinicalReferral.patient.modifierExtension", "short" : "Extensions that cannot be ignored even if unrecognized", "definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).", "alias" : ["extensions", "user content", "modifiers"], "min" : 0, "max" : "*", "base" : { "path" : "BackboneElement.modifierExtension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : true, "isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them", "isSummary" : true, "mapping" : [{ "identity" : "rim", "map" : "N/A" }] }, { "id" : "GeneticClinicalReferral.patient.nhsNumber", "path" : "GeneticClinicalReferral.patient.nhsNumber", "short" : "NHS Number", "definition" : "NHS Number of the patient", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.nhsNumber", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NHSIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-3" }, { "identity" : "fhir", "map" : "Patient.identifier[nhsNumber]" }, { "identity" : "questionnaire", "map" : "LN/89061-6" }] }, { "id" : "GeneticClinicalReferral.patient.medicalRecordNumber", "path" : "GeneticClinicalReferral.patient.medicalRecordNumber", "short" : "Hospital Number (Medical Record Number)", "definition" : "Local hospital number of the patient", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.medicalRecordNumber", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/MedicalRecordNumber"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-3" }, { "identity" : "fhir", "map" : "Patient.identifier[MedicalRecordNumber]" }, { "identity" : "questionnaire", "map" : "LN/76435-7" }] }, { "id" : "GeneticClinicalReferral.patient.familyName", "path" : "GeneticClinicalReferral.patient.familyName", "short" : "Patient surname", "definition" : "Patient surname", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.familyName", "min" : 1, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-5.1" }, { "identity" : "fhir", "map" : "Patient.name.family" }, { "identity" : "questionnaire", "map" : "LN/45394-4" }] }, { "id" : "GeneticClinicalReferral.patient.givenName", "path" : "GeneticClinicalReferral.patient.givenName", "short" : "Patient first name", "definition" : "Patient first name", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.givenName", "min" : 1, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-5.2" }, { "identity" : "fhir", "map" : "Patient.name.given" }, { "identity" : "questionnaire", "map" : "LN/45392-8" }] }, { "id" : "GeneticClinicalReferral.patient.birthDate", "path" : "GeneticClinicalReferral.patient.birthDate", "short" : "Date of birth", "definition" : "Patient date of birth", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.birthDate", "min" : 1, "max" : "1" }, "type" : [{ "code" : "date" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-7" }, { "identity" : "fhir", "map" : "Patient.birthDate" }, { "identity" : "questionnaire", "map" : "LN/21112-8" }] }, { "id" : "GeneticClinicalReferral.patient.address", "path" : "GeneticClinicalReferral.patient.address", "short" : "Address", "definition" : "Address line(s) and postcode", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.address", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Address" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-11" }, { "identity" : "fhir", "map" : "Patient.address" }, { "identity" : "questionnaire", "map" : "LN/56799-0" }] }, { "id" : "GeneticClinicalReferral.patient.sexRegisteredAtBirth", "path" : "GeneticClinicalReferral.patient.sexRegisteredAtBirth", "short" : "Sex registered at birth", "definition" : "Administrative gender", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.sexRegisteredAtBirth", "min" : 0, "max" : "1" }, "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, "mapping" : [{ "identity" : "hl7v2", "map" : "PID-8" }, { "identity" : "fhir", "map" : "Patient.gender" }, { "identity" : "questionnaire", "map" : "LN/46098-0" }] }, { "id" : "GeneticClinicalReferral.patient.accountNumber", "path" : "GeneticClinicalReferral.patient.accountNumber", "short" : "Account Number (Episode or Stay Number)", "definition" : "Patient account number", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.accountNumber", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/HospitalProviderSpellIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PV1-19" }, { "identity" : "fhir", "map" : "ServiceRequest.encounter.identifier" }, { "identity" : "questionnaire", "map" : "LN/56797-4" }] }, { "id" : "GeneticClinicalReferral.patient.pedigreeNumber", "path" : "GeneticClinicalReferral.patient.pedigreeNumber", "short" : "G Number (Pedigree Number)", "definition" : "Links the proband to consultands (at-risk relatives) referred as part of the same\nfamily investigation. Not a Patient identifier.", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patient.pedigreeNumber", "min" : 0, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX" }, { "identity" : "fhir", "map" : "Observation.valueString via ServiceRequest.supportingInfo" }, { "identity" : "questionnaire", "map" : "pedigreeNumber" }] }, { "id" : "GeneticClinicalReferral.referrer", "path" : "GeneticClinicalReferral.referrer", "short" : "Referring Provider", "definition" : "The referring clinician and organisation. Same items as Genomic Test Order's requester.", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer", "min" : 1, "max" : "1" }, "type" : [{ "code" : "BackboneElement" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-12 / OBR-16 (ordering provider), ORC-21 (ordering facility)" }, { "identity" : "fhir", "map" : "ServiceRequest.requester (PractitionerRole)" }, { "identity" : "questionnaire", "map" : "ReferringProvider" }] }, { "id" : "GeneticClinicalReferral.referrer.id", "path" : "GeneticClinicalReferral.referrer.id", "representation" : ["xmlAttr"], "short" : "Unique id for inter-element referencing", "definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.", "min" : 0, "max" : "1", "base" : { "path" : "Element.id", "min" : 0, "max" : "1" }, "type" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type", "valueUrl" : "string" }], "code" : "http://hl7.org/fhirpath/System.String" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.referrer.extension", "path" : "GeneticClinicalReferral.referrer.extension", "slicing" : { "discriminator" : [{ "type" : "value", "path" : "url" }], "description" : "Extensions are always sliced by (at least) url", "rules" : "open" }, "short" : "Additional content defined by implementations", "definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias" : ["extensions", "user content"], "min" : 0, "max" : "*", "base" : { "path" : "Element.extension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.referrer.modifierExtension", "path" : "GeneticClinicalReferral.referrer.modifierExtension", "short" : "Extensions that cannot be ignored even if unrecognized", "definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).", "alias" : ["extensions", "user content", "modifiers"], "min" : 0, "max" : "*", "base" : { "path" : "BackboneElement.modifierExtension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : true, "isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them", "isSummary" : true, "mapping" : [{ "identity" : "rim", "map" : "N/A" }] }, { "id" : "GeneticClinicalReferral.referrer.name", "path" : "GeneticClinicalReferral.referrer.name", "short" : "Referring Clinician Name", "definition" : "Referring clinician name", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer.name", "min" : 1, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/18705-4" }] }, { "id" : "GeneticClinicalReferral.referrer.specialty", "path" : "GeneticClinicalReferral.referrer.specialty", "short" : "Referring Clinician Current Speciality", "definition" : "Referring clinician specialty", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer.specialty", "min" : 0, "max" : "1" }, "type" : [{ "code" : "CodeableConcept" }], "binding" : { "strength" : "extensible", "valueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode" }, "mapping" : [{ "identity" : "questionnaire", "map" : "LN/18707-0" }] }, { "id" : "GeneticClinicalReferral.referrer.professionalIdentifier", "path" : "GeneticClinicalReferral.referrer.professionalIdentifier", "short" : "Referring Clinician Professional Identifier", "definition" : "e.g. GMC/GMP number", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer.professionalIdentifier", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerIdentifier"] }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/46608-6" }] }, { "id" : "GeneticClinicalReferral.referrer.email", "path" : "GeneticClinicalReferral.referrer.email", "short" : "Email", "definition" : "Referring clinician email", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.referrer.email", "min" : 0, "max" : "*" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/89058-2" }] }, { "id" : "GeneticClinicalReferral.referrer.phone", "path" : "GeneticClinicalReferral.referrer.phone", "short" : "Phone", "definition" : "Referring clinician telephone", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer.phone", "min" : 0, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/81230-5" }] }, { "id" : "GeneticClinicalReferral.referrer.organisation", "path" : "GeneticClinicalReferral.referrer.organisation", "short" : "Referring Organisation", "definition" : "ODS code of the referring organisation", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.referrer.organisation", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrganisationCode"] }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.organization" }, { "identity" : "questionnaire", "map" : "HL7/ORC-21" }] }, { "id" : "GeneticClinicalReferral.recipient", "path" : "GeneticClinicalReferral.recipient", "short" : "Referred-to Provider/Service", "definition" : "Who the referral is sent to - a named clinician or a service/clinic. Genomic Test Order\nhas no equivalent: an order's Order Filler is fixed.", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.recipient", "min" : 0, "max" : "1" }, "type" : [{ "code" : "BackboneElement" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }], "mapping" : [{ "identity" : "hl7v2", "map" : "MSH-5 / MSH-6 (receiving application / facility)" }, { "identity" : "fhir", "map" : "ServiceRequest.performer (PractitionerRole or HealthcareService)" }, { "identity" : "questionnaire", "map" : "ReferredToProvider" }] }, { "id" : "GeneticClinicalReferral.recipient.id", "path" : "GeneticClinicalReferral.recipient.id", "representation" : ["xmlAttr"], "short" : "Unique id for inter-element referencing", "definition" : "Unique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.", "min" : 0, "max" : "1", "base" : { "path" : "Element.id", "min" : 0, "max" : "1" }, "type" : [{ "extension" : [{ "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fhir-type", "valueUrl" : "string" }], "code" : "http://hl7.org/fhirpath/System.String" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.recipient.extension", "path" : "GeneticClinicalReferral.recipient.extension", "slicing" : { "discriminator" : [{ "type" : "value", "path" : "url" }], "description" : "Extensions are always sliced by (at least) url", "rules" : "open" }, "short" : "Additional content defined by implementations", "definition" : "May be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension.", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "alias" : ["extensions", "user content"], "min" : 0, "max" : "*", "base" : { "path" : "Element.extension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : false, "isSummary" : false, "mapping" : [{ "identity" : "rim", "map" : "n/a" }] }, { "id" : "GeneticClinicalReferral.recipient.modifierExtension", "path" : "GeneticClinicalReferral.recipient.modifierExtension", "short" : "Extensions that cannot be ignored even if unrecognized", "definition" : "May be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions.\n\nModifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself).", "comment" : "There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.", "requirements" : "Modifier extensions allow for extensions that *cannot* be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the [definition of modifier extensions](http://hl7.org/fhir/R4/extensibility.html#modifierExtension).", "alias" : ["extensions", "user content", "modifiers"], "min" : 0, "max" : "*", "base" : { "path" : "BackboneElement.modifierExtension", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Extension" }], "constraint" : [{ "key" : "ele-1", "severity" : "error", "human" : "All FHIR elements must have a @value or children", "expression" : "hasValue() or (children().count() > id.count())", "xpath" : "@value|f:*|h:div", "source" : "http://hl7.org/fhir/StructureDefinition/Element" }, { "key" : "ext-1", "severity" : "error", "human" : "Must have either extensions or value[x], not both", "expression" : "extension.exists() != value.exists()", "xpath" : "exists(f:extension)!=exists(f:*[starts-with(local-name(.), \"value\")])", "source" : "http://hl7.org/fhir/StructureDefinition/Extension" }], "isModifier" : true, "isModifierReason" : "Modifier extensions are expected to modify the meaning or interpretation of the element that contains them", "isSummary" : true, "mapping" : [{ "identity" : "rim", "map" : "N/A" }] }, { "id" : "GeneticClinicalReferral.recipient.service", "path" : "GeneticClinicalReferral.recipient.service", "short" : "Referred-to Service/Clinic Name", "definition" : "e.g. clinical genetics clinic", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.recipient.service", "min" : 0, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "fhir", "map" : "HealthcareService.name" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/serviceName" }] }, { "id" : "GeneticClinicalReferral.recipient.organisation", "path" : "GeneticClinicalReferral.recipient.organisation", "short" : "Referred-to Organisation", "definition" : "ODS code of the receiving organisation", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.recipient.organisation", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrganisationCode"] }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.organization" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/organisationCode" }] }, { "id" : "GeneticClinicalReferral.recipient.clinician", "path" : "GeneticClinicalReferral.recipient.clinician", "short" : "Named Consultant/Clinician (if known)", "definition" : "Named clinician, if any", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.recipient.clinician", "min" : 0, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.practitioner" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/clinicianName" }] }, { "id" : "GeneticClinicalReferral.serviceRequested", "path" : "GeneticClinicalReferral.serviceRequested", "short" : "Referral Type / Service Requested", "definition" : "The clinical service/assessment requested (e.g. genetic counselling, cascade testing) -\nnot a Genomic Test Directory code. For a clinical genetics referral this is SNOMED CT\n`306119003`.", "min" : 1, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.serviceRequested", "min" : 1, "max" : "1" }, "type" : [{ "code" : "CodeableConcept" }], "patternCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "306119003" }] }, "mapping" : [{ "identity" : "hl7v2", "map" : "OBR-4 (306119003^^SCT)" }, { "identity" : "fhir", "map" : "ServiceRequest.code" }, { "identity" : "questionnaire", "map" : "HL7/OBR-4" }] }, { "id" : "GeneticClinicalReferral.reasonForReferral", "path" : "GeneticClinicalReferral.reasonForReferral", "short" : "Reason for referral", "definition" : "Suspected/confirmed condition", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.reasonForReferral", "min" : 0, "max" : "*" }, "type" : [{ "code" : "CodeableConcept" }], "binding" : { "strength" : "extensible", "valueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes" }, "mapping" : [{ "identity" : "hl7v2", "map" : "OBR-31 / DG1" }, { "identity" : "fhir", "map" : "ServiceRequest.reasonCode" }, { "identity" : "questionnaire", "map" : "LN/51967-8" }] }, { "id" : "GeneticClinicalReferral.clinicalInformation", "path" : "GeneticClinicalReferral.clinicalInformation", "short" : "Clinical details", "definition" : "Brief free-text note, if no family letter is attached", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.clinicalInformation", "min" : 0, "max" : "1" }, "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "NTE" }, { "identity" : "fhir", "map" : "ServiceRequest.note" }, { "identity" : "questionnaire", "map" : "HL7/NTE-1" }] }, { "id" : "GeneticClinicalReferral.forms", "path" : "GeneticClinicalReferral.forms", "short" : "Referral forms", "definition" : "Completed referral forms, e.g. a national GMS test order form or a service-specific\nreferral form, as structured answers.", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.forms", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/QuestionnaireResponse"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (QuestionnaireResponse)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/forms" }] }, { "id" : "GeneticClinicalReferral.consultand", "path" : "GeneticClinicalReferral.consultand", "short" : "Consultand", "definition" : "A named at-risk relative being referred alongside the proband - one per relative", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.consultand", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/RelatedPerson"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "NK1" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (RelatedPerson)" }, { "identity" : "questionnaire", "map" : "Genetic Referral Consultand Questionnaire" }] }, { "id" : "GeneticClinicalReferral.pathologyReport", "path" : "GeneticClinicalReferral.pathologyReport", "short" : "Pathology report", "definition" : "The pathology report supporting the referral. Ideally a reference to a clinical document\nshared via the NHS England Single Patient Record (SPR); in the interim this may be an\nattached PDF (`DocumentReference` -> `Binary`). NHS England NDRS also holds Cancer\nPathology Reports.", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.pathologyReport", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP reference pointer, or ED for an attached PDF)" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (DocumentReference, or Bundle type = document)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/pathologyReport" }] }, { "id" : "GeneticClinicalReferral.patientSummary", "path" : "GeneticClinicalReferral.patientSummary", "short" : "Patient summary", "definition" : "The patient summary, as a clinical document. **Not** part of the NHS England Genomics\nServiceRequest specification.", "min" : 0, "max" : "1", "base" : { "path" : "GeneticClinicalReferral.patientSummary", "min" : 0, "max" : "1" }, "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP reference pointer, or ED for an attached PDF)" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (DocumentReference, or Bundle type = document)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/patientSummary" }] }, { "id" : "GeneticClinicalReferral.familyHistory", "path" : "GeneticClinicalReferral.familyHistory", "short" : "Family history", "definition" : "Structured family history (FamilyMemberHistory, one per relative), or the unstructured\nfamily letter as a clinical document. At present clinical genetics is believed\nto retrieve structured family history from NHS England NDRS (National Disease Registration Service). NDRS is a\nreporting/analytical service, so the information may not be current.", "min" : 0, "max" : "*", "base" : { "path" : "GeneticClinicalReferral.familyHistory", "min" : 0, "max" : "*" }, "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistory", "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP or ED) for the family letter; structured family history has no OMG_O19 segment - retrieved from NHS England NDRS" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (FamilyMemberHistory, or DocumentReference for the family letter)" }, { "identity" : "questionnaire", "map" : "FamilyHistory (family letter: FamilyHistory/attachment)" }] }] }, "differential" : { "element" : [{ "id" : "GeneticClinicalReferral", "path" : "GeneticClinicalReferral", "short" : "Genetic Clinical Referral", "definition" : "**For analysis purposes only - not an active or planned project.** This referral is not\nexpected to be implemented within this IG; it is expected to be implemented via a\nGenomics England Limited application, NHS England BaRS/eRS or the NHS England Genomic\nOrder Management Service.\n\nA closed-loop clinical referral into a genomics/clinical genetics service (see\n[Genetic Referrals](GeneticReferrals.html)), modelled on the IHE 360X HL7 v2 referral\norder `OMG^O19` with `OSU^O51` status updates (see [Referral Request [PCC-55]](PCC-55.html)) -\nnot a laboratory order. The referral itself stays small: clinical content\ntravels as forms, clinical documents (pathology report, patient summary) and family\nhistory referenced from the referral.\n\nThis is a logical model - it is not exchanged as is. It breaks down into\n`ServiceRequest`, `Patient`, `PractitionerRole`, `Organization`, `HealthcareService`,\n`QuestionnaireResponse`, `RelatedPerson`, `Observation` and clinical documents\n(`DocumentReference` or a FHIR Document `Bundle`)." }, { "id" : "GeneticClinicalReferral.referralIdentifier", "path" : "GeneticClinicalReferral.referralIdentifier", "short" : "Referral Identifier", "definition" : "Originating referral identifier, assigned by the referrer and used in every message", "min" : 1, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrderIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-2 / OBR-2" }, { "identity" : "fhir", "map" : "ServiceRequest.identifier[OrderIdentifier]" }, { "identity" : "questionnaire", "map" : "HL7/ORC-2" }] }, { "id" : "GeneticClinicalReferral.status", "path" : "GeneticClinicalReferral.status", "short" : "Referral Status", "definition" : "e.g. active, completed, revoked", "min" : 1, "max" : "1", "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "http://hl7.org/fhir/ValueSet/request-status" }, "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-1 / ORC-5 (OMG^O19 ORC-1 NW; status changes in OSU^O51)" }, { "identity" : "fhir", "map" : "ServiceRequest.status" }, { "identity" : "questionnaire", "map" : "HL7/ORC-5" }] }, { "id" : "GeneticClinicalReferral.priority", "path" : "GeneticClinicalReferral.priority", "short" : "Priority", "definition" : "Urgency of the referral", "min" : 0, "max" : "1", "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/RequestPriority" }, "mapping" : [{ "identity" : "hl7v2", "map" : "TQ1-9" }, { "identity" : "fhir", "map" : "ServiceRequest.priority" }, { "identity" : "questionnaire", "map" : "LN/82768-3" }] }, { "id" : "GeneticClinicalReferral.dateOfReferral", "path" : "GeneticClinicalReferral.dateOfReferral", "short" : "Date of referral", "definition" : "When the referral was made", "min" : 0, "max" : "1", "type" : [{ "code" : "dateTime" }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-9" }, { "identity" : "fhir", "map" : "ServiceRequest.authoredOn" }] }, { "id" : "GeneticClinicalReferral.patient", "path" : "GeneticClinicalReferral.patient", "short" : "Patient", "definition" : "The proband. Same items as Genomic Test Order's patient.", "min" : 1, "max" : "1", "type" : [{ "code" : "BackboneElement" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID" }, { "identity" : "fhir", "map" : "ServiceRequest.subject (Patient)" }, { "identity" : "questionnaire", "map" : "Patient" }] }, { "id" : "GeneticClinicalReferral.patient.nhsNumber", "path" : "GeneticClinicalReferral.patient.nhsNumber", "short" : "NHS Number", "definition" : "NHS Number of the patient", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/NHSIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-3" }, { "identity" : "fhir", "map" : "Patient.identifier[nhsNumber]" }, { "identity" : "questionnaire", "map" : "LN/89061-6" }] }, { "id" : "GeneticClinicalReferral.patient.medicalRecordNumber", "path" : "GeneticClinicalReferral.patient.medicalRecordNumber", "short" : "Hospital Number (Medical Record Number)", "definition" : "Local hospital number of the patient", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/MedicalRecordNumber"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-3" }, { "identity" : "fhir", "map" : "Patient.identifier[MedicalRecordNumber]" }, { "identity" : "questionnaire", "map" : "LN/76435-7" }] }, { "id" : "GeneticClinicalReferral.patient.familyName", "path" : "GeneticClinicalReferral.patient.familyName", "short" : "Patient surname", "definition" : "Patient surname", "min" : 1, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-5.1" }, { "identity" : "fhir", "map" : "Patient.name.family" }, { "identity" : "questionnaire", "map" : "LN/45394-4" }] }, { "id" : "GeneticClinicalReferral.patient.givenName", "path" : "GeneticClinicalReferral.patient.givenName", "short" : "Patient first name", "definition" : "Patient first name", "min" : 1, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-5.2" }, { "identity" : "fhir", "map" : "Patient.name.given" }, { "identity" : "questionnaire", "map" : "LN/45392-8" }] }, { "id" : "GeneticClinicalReferral.patient.birthDate", "path" : "GeneticClinicalReferral.patient.birthDate", "short" : "Date of birth", "definition" : "Patient date of birth", "min" : 1, "max" : "1", "type" : [{ "code" : "date" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-7" }, { "identity" : "fhir", "map" : "Patient.birthDate" }, { "identity" : "questionnaire", "map" : "LN/21112-8" }] }, { "id" : "GeneticClinicalReferral.patient.address", "path" : "GeneticClinicalReferral.patient.address", "short" : "Address", "definition" : "Address line(s) and postcode", "min" : 0, "max" : "1", "type" : [{ "code" : "Address" }], "mapping" : [{ "identity" : "hl7v2", "map" : "PID-11" }, { "identity" : "fhir", "map" : "Patient.address" }, { "identity" : "questionnaire", "map" : "LN/56799-0" }] }, { "id" : "GeneticClinicalReferral.patient.sexRegisteredAtBirth", "path" : "GeneticClinicalReferral.patient.sexRegisteredAtBirth", "short" : "Sex registered at birth", "definition" : "Administrative gender", "min" : 0, "max" : "1", "type" : [{ "code" : "code" }], "binding" : { "strength" : "required", "valueSet" : "http://hl7.org/fhir/ValueSet/administrative-gender" }, "mapping" : [{ "identity" : "hl7v2", "map" : "PID-8" }, { "identity" : "fhir", "map" : "Patient.gender" }, { "identity" : "questionnaire", "map" : "LN/46098-0" }] }, { "id" : "GeneticClinicalReferral.patient.accountNumber", "path" : "GeneticClinicalReferral.patient.accountNumber", "short" : "Account Number (Episode or Stay Number)", "definition" : "Patient account number", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/HospitalProviderSpellIdentifier"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "PV1-19" }, { "identity" : "fhir", "map" : "ServiceRequest.encounter.identifier" }, { "identity" : "questionnaire", "map" : "LN/56797-4" }] }, { "id" : "GeneticClinicalReferral.patient.pedigreeNumber", "path" : "GeneticClinicalReferral.patient.pedigreeNumber", "short" : "G Number (Pedigree Number)", "definition" : "Links the proband to consultands (at-risk relatives) referred as part of the same\nfamily investigation. Not a Patient identifier.", "min" : 0, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX" }, { "identity" : "fhir", "map" : "Observation.valueString via ServiceRequest.supportingInfo" }, { "identity" : "questionnaire", "map" : "pedigreeNumber" }] }, { "id" : "GeneticClinicalReferral.referrer", "path" : "GeneticClinicalReferral.referrer", "short" : "Referring Provider", "definition" : "The referring clinician and organisation. Same items as Genomic Test Order's requester.", "min" : 1, "max" : "1", "type" : [{ "code" : "BackboneElement" }], "mapping" : [{ "identity" : "hl7v2", "map" : "ORC-12 / OBR-16 (ordering provider), ORC-21 (ordering facility)" }, { "identity" : "fhir", "map" : "ServiceRequest.requester (PractitionerRole)" }, { "identity" : "questionnaire", "map" : "ReferringProvider" }] }, { "id" : "GeneticClinicalReferral.referrer.name", "path" : "GeneticClinicalReferral.referrer.name", "short" : "Referring Clinician Name", "definition" : "Referring clinician name", "min" : 1, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/18705-4" }] }, { "id" : "GeneticClinicalReferral.referrer.specialty", "path" : "GeneticClinicalReferral.referrer.specialty", "short" : "Referring Clinician Current Speciality", "definition" : "Referring clinician specialty", "min" : 0, "max" : "1", "type" : [{ "code" : "CodeableConcept" }], "binding" : { "strength" : "extensible", "valueSet" : "https://fhir.hl7.org.uk/ValueSet/UKCore-PracticeSettingCode" }, "mapping" : [{ "identity" : "questionnaire", "map" : "LN/18707-0" }] }, { "id" : "GeneticClinicalReferral.referrer.professionalIdentifier", "path" : "GeneticClinicalReferral.referrer.professionalIdentifier", "short" : "Referring Clinician Professional Identifier", "definition" : "e.g. GMC/GMP number", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/PractitionerIdentifier"] }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/46608-6" }] }, { "id" : "GeneticClinicalReferral.referrer.email", "path" : "GeneticClinicalReferral.referrer.email", "short" : "Email", "definition" : "Referring clinician email", "min" : 0, "max" : "*", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/89058-2" }] }, { "id" : "GeneticClinicalReferral.referrer.phone", "path" : "GeneticClinicalReferral.referrer.phone", "short" : "Phone", "definition" : "Referring clinician telephone", "min" : 0, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "questionnaire", "map" : "LN/81230-5" }] }, { "id" : "GeneticClinicalReferral.referrer.organisation", "path" : "GeneticClinicalReferral.referrer.organisation", "short" : "Referring Organisation", "definition" : "ODS code of the referring organisation", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrganisationCode"] }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.organization" }, { "identity" : "questionnaire", "map" : "HL7/ORC-21" }] }, { "id" : "GeneticClinicalReferral.recipient", "path" : "GeneticClinicalReferral.recipient", "short" : "Referred-to Provider/Service", "definition" : "Who the referral is sent to - a named clinician or a service/clinic. Genomic Test Order\nhas no equivalent: an order's Order Filler is fixed.", "min" : 0, "max" : "1", "type" : [{ "code" : "BackboneElement" }], "mapping" : [{ "identity" : "hl7v2", "map" : "MSH-5 / MSH-6 (receiving application / facility)" }, { "identity" : "fhir", "map" : "ServiceRequest.performer (PractitionerRole or HealthcareService)" }, { "identity" : "questionnaire", "map" : "ReferredToProvider" }] }, { "id" : "GeneticClinicalReferral.recipient.service", "path" : "GeneticClinicalReferral.recipient.service", "short" : "Referred-to Service/Clinic Name", "definition" : "e.g. clinical genetics clinic", "min" : 0, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "fhir", "map" : "HealthcareService.name" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/serviceName" }] }, { "id" : "GeneticClinicalReferral.recipient.organisation", "path" : "GeneticClinicalReferral.recipient.organisation", "short" : "Referred-to Organisation", "definition" : "ODS code of the receiving organisation", "min" : 0, "max" : "1", "type" : [{ "code" : "Identifier", "profile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/OrganisationCode"] }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.organization" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/organisationCode" }] }, { "id" : "GeneticClinicalReferral.recipient.clinician", "path" : "GeneticClinicalReferral.recipient.clinician", "short" : "Named Consultant/Clinician (if known)", "definition" : "Named clinician, if any", "min" : 0, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "fhir", "map" : "PractitionerRole.practitioner" }, { "identity" : "questionnaire", "map" : "ReferredToProvider/clinicianName" }] }, { "id" : "GeneticClinicalReferral.serviceRequested", "path" : "GeneticClinicalReferral.serviceRequested", "short" : "Referral Type / Service Requested", "definition" : "The clinical service/assessment requested (e.g. genetic counselling, cascade testing) -\nnot a Genomic Test Directory code. For a clinical genetics referral this is SNOMED CT\n`306119003`.", "min" : 1, "max" : "1", "type" : [{ "code" : "CodeableConcept" }], "patternCodeableConcept" : { "coding" : [{ "system" : "http://snomed.info/sct", "code" : "306119003" }] }, "mapping" : [{ "identity" : "hl7v2", "map" : "OBR-4 (306119003^^SCT)" }, { "identity" : "fhir", "map" : "ServiceRequest.code" }, { "identity" : "questionnaire", "map" : "HL7/OBR-4" }] }, { "id" : "GeneticClinicalReferral.reasonForReferral", "path" : "GeneticClinicalReferral.reasonForReferral", "short" : "Reason for referral", "definition" : "Suspected/confirmed condition", "min" : 0, "max" : "*", "type" : [{ "code" : "CodeableConcept" }], "binding" : { "strength" : "extensible", "valueSet" : "https://fhir.nwgenomics.nhs.uk/ValueSet/GenomicClinicalIndicationCodes" }, "mapping" : [{ "identity" : "hl7v2", "map" : "OBR-31 / DG1" }, { "identity" : "fhir", "map" : "ServiceRequest.reasonCode" }, { "identity" : "questionnaire", "map" : "LN/51967-8" }] }, { "id" : "GeneticClinicalReferral.clinicalInformation", "path" : "GeneticClinicalReferral.clinicalInformation", "short" : "Clinical details", "definition" : "Brief free-text note, if no family letter is attached", "min" : 0, "max" : "1", "type" : [{ "code" : "string" }], "mapping" : [{ "identity" : "hl7v2", "map" : "NTE" }, { "identity" : "fhir", "map" : "ServiceRequest.note" }, { "identity" : "questionnaire", "map" : "HL7/NTE-1" }] }, { "id" : "GeneticClinicalReferral.forms", "path" : "GeneticClinicalReferral.forms", "short" : "Referral forms", "definition" : "Completed referral forms, e.g. a national GMS test order form or a service-specific\nreferral form, as structured answers.", "min" : 0, "max" : "*", "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/QuestionnaireResponse"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (QuestionnaireResponse)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/forms" }] }, { "id" : "GeneticClinicalReferral.consultand", "path" : "GeneticClinicalReferral.consultand", "short" : "Consultand", "definition" : "A named at-risk relative being referred alongside the proband - one per relative", "min" : 0, "max" : "*", "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/RelatedPerson"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "NK1" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (RelatedPerson)" }, { "identity" : "questionnaire", "map" : "Genetic Referral Consultand Questionnaire" }] }, { "id" : "GeneticClinicalReferral.pathologyReport", "path" : "GeneticClinicalReferral.pathologyReport", "short" : "Pathology report", "definition" : "The pathology report supporting the referral. Ideally a reference to a clinical document\nshared via the NHS England Single Patient Record (SPR); in the interim this may be an\nattached PDF (`DocumentReference` -> `Binary`). NHS England NDRS also holds Cancer\nPathology Reports.", "min" : 0, "max" : "*", "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP reference pointer, or ED for an attached PDF)" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (DocumentReference, or Bundle type = document)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/pathologyReport" }] }, { "id" : "GeneticClinicalReferral.patientSummary", "path" : "GeneticClinicalReferral.patientSummary", "short" : "Patient summary", "definition" : "The patient summary, as a clinical document. **Not** part of the NHS England Genomics\nServiceRequest specification.", "min" : 0, "max" : "1", "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP reference pointer, or ED for an attached PDF)" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (DocumentReference, or Bundle type = document)" }, { "identity" : "questionnaire", "map" : "SupportingInformation/patientSummary" }] }, { "id" : "GeneticClinicalReferral.familyHistory", "path" : "GeneticClinicalReferral.familyHistory", "short" : "Family history", "definition" : "Structured family history (FamilyMemberHistory, one per relative), or the unstructured\nfamily letter as a clinical document. At present clinical genetics is believed\nto retrieve structured family history from NHS England NDRS (National Disease Registration Service). NDRS is a\nreporting/analytical service, so the information may not be current.", "min" : 0, "max" : "*", "type" : [{ "code" : "Reference", "targetProfile" : ["https://fhir.nwgenomics.nhs.uk/StructureDefinition/FamilyMemberHistory", "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DocumentReference", "http://hl7.org/fhir/StructureDefinition/Bundle"] }], "mapping" : [{ "identity" : "hl7v2", "map" : "OBX (type = RP or ED) for the family letter; structured family history has no OMG_O19 segment - retrieved from NHS England NDRS" }, { "identity" : "fhir", "map" : "ServiceRequest.supportingInfo (FamilyMemberHistory, or DocumentReference for the family letter)" }, { "identity" : "questionnaire", "map" : "FamilyHistory (family letter: FamilyHistory/attachment)" }] }] } }