Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
ServiceRequest
ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example
Example of a ServiceRequest, submitted to request variant reinterpretation. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example |
basedOn |
reference : ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R442 |
display : Variant Re-interpretation |
orderDetail |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R59 |
display : Early onset or syndromic epilepsy |
subject |
reference : Patient/Patient-SalimaPomfrets-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303444 |
authoredOn : 2023-10-01T10:08:00Z |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmith-Example |
reasonCode |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : 261004008 |
display : Diagnostic |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
note |
text : No sample required. |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example", "basedOn": [ { "reference": "ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" } ], "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R442", "display": "Variant Re-interpretation" } ] }, "orderDetail": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R59", "display": "Early onset or syndromic epilepsy" } ] } ], "subject": { "reference": "Patient/Patient-SalimaPomfrets-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303444" } }, "authoredOn": "2023-10-01T10:08:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "261004008", "display": "Diagnostic" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" } ], "note": [ { "text": "No sample required." }, { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrder-VariantReinterpretation-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceReques/ServiceRequest-NonWGSTestOrderForm-SyndromicEpilepsy-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R442" /> <display value="Variant Re-interpretation" /> </coding> </code> <orderDetail> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R59" /> <display value="Early onset or syndromic epilepsy" /> </coding> </orderDetail> <subject> <reference value="Patient/Patient-SalimaPomfrets-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303444" /> </identifier> </subject> <authoredOn value="2023-10-01T10:08:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmith-Example" /> </requester> <reasonCode> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="261004008" /> <display value="Diagnostic" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <note> <text value="No sample required." /> </note> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ For example: new evidence available that will likely change the classification of the variant- identification of additional patient(s) with the same genetic variant" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-Cancellation-Example
Example of a ServiceRequest, submitted to request a test cancellation. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-Cancellation-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R67.1 |
display : Monogenic hearing loss |
subject |
reference : Patient/Patient-MeirLieberman-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-08-05T10:08:00Z |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
supportingInfo |
reference : Observation/Observation-NatureAndAgeOfHearingLoss-Example |
specimen |
display : Specimen/Specimen-BloodEDTA-Example |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-Cancellation-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.1", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-05T10:08:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" }, { "reference": "Observation/Observation-NatureAndAgeOfHearingLoss-Example" } ], "specimen": [ { "display": "Specimen/Specimen-BloodEDTA-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-Cancellation-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.1" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-05T10:08:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NatureAndAgeOfHearingLoss-Example" /> </supportingInfo> <specimen> <display value="Specimen/Specimen-BloodEDTA-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
value |
reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : cancer-non-wgs |
display : Cancer - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : M119.5 |
display : Multi Target NGS Panel Small |
subject |
reference : Patient/Patient-PatrickSammy-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307555 |
authoredOn : 2023-09-08 |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 335741000000100 |
display : Recurrence of tumour |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RJZ |
display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
supportingInfo |
reference : Observation/Observation-Cellularity-Example |
supportingInfo |
reference : Observation/Observation-TumorType-Example |
supportingInfo |
reference : Observation/Observation-Necrosis-Example |
supportingInfo |
reference : Observation/Observation-NeoplasticCell-Example |
supportingInfo |
reference : Condition/Condition-LungTumor-Example |
specimen |
reference : Specimen/Specimen-SolidTumor-Example |
note |
text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact", "valueReference": { "reference": "PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M119.5", "display": "Multi Target NGS Panel Small" } ] }, "subject": { "reference": "Patient/Patient-PatrickSammy-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555" } }, "authoredOn": "2023-09-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "335741000000100", "display": "Recurrence of tumour" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RJZ" }, "display": "KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" } ], "supportingInfo": [ { "reference": "Observation/Observation-Cellularity-Example" }, { "reference": "Observation/Observation-TumorType-Example" }, { "reference": "Observation/Observation-Necrosis-Example" }, { "reference": "Observation/Observation-NeoplasticCell-Example" }, { "reference": "Condition/Condition-LungTumor-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-SolidTumor-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-CancerSolidTumor-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact"> <valueReference> <reference value="PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" /> </valueReference> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M119.5" /> <display value="Multi Target NGS Panel Small" /> </coding> </code> <subject> <reference value="Patient/Patient-PatrickSammy-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> </subject> <authoredOn value="2023-09-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RJZ" /> </identifier> <display value="KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" /> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="335741000000100" /> <display value="Recurrence of tumour" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-Cellularity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-TumorType-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Necrosis-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NeoplasticCell-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-LungTumor-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-SolidTumor-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. malignant tumour - molecular assessment will aid management" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example
Example of a ServiceRequest, submitted to request a cascade test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example |
basedOn |
reference : ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R134 |
display : Familial Hypercholesterolaemia |
subject |
reference : Patient/Patient-FayMutlow-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307806 |
authoredOn : 2023-10-04T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-MarySmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 473145005 |
display : Possible familial hypercholesterolemia |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-DutchLipidScore-Example |
supportingInfo |
reference : Observation/Observation-QueryXanthoma-Example |
supportingInfo |
reference : Observation/Observation-SimonBroomeCriteria-Example |
specimen |
reference : Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
note |
text : Father tested positive for FH. Confirmation required if daughter is positive for FH |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example", "basedOn": [ { "reference": "ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example" } ], "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R134", "display": "Familial Hypercholesterolaemia" } ] }, "subject": { "reference": "Patient/Patient-FayMutlow-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307806" } }, "authoredOn": "2023-10-04T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-MarySmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "473145005", "display": "Possible familial hypercholesterolemia" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-DutchLipidScore-Example" }, { "reference": "Observation/Observation-QueryXanthoma-Example" }, { "reference": "Observation/Observation-SimonBroomeCriteria-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" }, { "text": "Father tested positive for FH. Confirmation required if daughter is positive for FH" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-CascadeTesting-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R134" /> <display value="Familial Hypercholesterolaemia" /> </coding> </code> <subject> <reference value="Patient/Patient-FayMutlow-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307806" /> </identifier> </subject> <authoredOn value="2023-10-04T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-MarySmith-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="473145005" /> <display value="Possible familial hypercholesterolemia" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DutchLipidScore-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-QueryXanthoma-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-SimonBroomeCriteria-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" /> </note> <note> <text value="Father tested positive for FH. Confirmation required if daughter is positive for FH" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R138 |
display : Sudden Cardiac Death |
subject |
reference : Patient/Patient-AnitaLambertsDeceasedPatient-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303649 |
authoredOn : 2023-11-01T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
specimen |
display : Blood EDTA Specimen to be provided later |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms. |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R138", "display": "Sudden Cardiac Death" } ] }, "subject": { "reference": "Patient/Patient-AnitaLambertsDeceasedPatient-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303649" } }, "authoredOn": "2023-11-01T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" } ], "specimen": [ { "display": "Blood EDTA Specimen to be provided later" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms." } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-DeceasedPatient-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R138" /> <display value="Sudden Cardiac Death" /> </coding> </code> <subject> <reference value="Patient/Patient-AnitaLambertsDeceasedPatient-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303649" /> </identifier> </subject> <authoredOn value="2023-11-01T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmith-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <specimen> <display value="Blood EDTA Specimen to be provided later" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms." /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-Example
Example of a ServiceRequest. The scenario this is for is detailed on Non-WGS Test Request - Rare Disease
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R67.2 |
display : Monogenic hearing loss |
subject |
reference : Patient/Patient-MeirLieberman-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-08-05 |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Condition/Condition-HearingLoss-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.2", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-05", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Condition/Condition-HearingLoss-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-05" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-HearingLoss-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/Patient in need of test...example" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example
Example of a ServiceRequest for a foetus. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : urgent |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R21 |
display : Fetal anomalies with a likely genetic cause |
subject |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
authoredOn : 2023-09-25 |
requester |
reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 243787009 |
display : Antenatal screening |
supportingInfo |
reference : Observation/Observation-HistoryOfFetalLoss-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-PregnancyConfirmation-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Procedure/Procedure-InVitroFertilisation-Example |
note |
text : Samples are to be provided at a later date |
note |
text : No family history of relevant testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R21", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": [ { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ] }, "authoredOn": "2023-09-25", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" } ], "note": [ { "text": "Samples are to be provided at a later date" }, { "text": "No family history of relevant testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-25" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <note> <text value="Samples are to be provided at a later date" /> </note> <note> <text value="No family history of relevant testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example
Example of a ServiceRequest, submitted to request a follow-up test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R187 |
display : Cystic Fibrosis |
subject |
reference : Patient/Patient-AnitaLamberts-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303649 |
authoredOn : 2023-11-01T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RJ1 |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
note |
text : Specimen to be provided later |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R187", "display": "Cystic Fibrosis" } ] }, "subject": { "reference": "Patient/Patient-AnitaLamberts-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303649" } }, "authoredOn": "2023-11-01T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RJ1" } } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" } ], "note": [ { "text": "Specimen to be provided later" }, { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R187" /> <display value="Cystic Fibrosis" /> </coding> </code> <subject> <reference value="Patient/Patient-AnitaLamberts-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303649" /> </identifier> </subject> <authoredOn value="2023-11-01T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmith-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RJ1" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <note> <text value="Specimen to be provided later" /> </note> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : cancer-non-wgs |
display : Cancer - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : M91 |
display : Acute Lymphoblastic Leukaemia |
subject |
reference : Patient/Patient-PatrickSammy-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-09-03T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithPathology-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 441308009 |
display : New diagnosis |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-BlastPercentage-Example |
supportingInfo |
reference : Observation/Observation-Bruising-Example |
supportingInfo |
reference : Observation/Observation-Haemoglobin-Example |
supportingInfo |
reference : Observation/Observation-Neutrophils-Example |
supportingInfo |
reference : Observation/Observation-NucleatedCellCount-Example |
supportingInfo |
reference : Observation/Observation-Platelets-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
supportingInfo |
reference : Observation/Observation-WhiteBloodCell-Example |
supportingInfo |
reference : Condition/Condition-Hepatosplenomegaly-Example |
specimen |
reference : Specimen/Specimen-BoneMarrowAspiration-Example |
note |
text : No Previous Relevant Test Report |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M91", "display": "Acute Lymphoblastic Leukaemia" } ] }, "subject": { "reference": "Patient/Patient-PatrickSammy-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-09-03T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithPathology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "441308009", "display": "New diagnosis" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-BlastPercentage-Example" }, { "reference": "Observation/Observation-Bruising-Example" }, { "reference": "Observation/Observation-Haemoglobin-Example" }, { "reference": "Observation/Observation-Neutrophils-Example" }, { "reference": "Observation/Observation-NucleatedCellCount-Example" }, { "reference": "Observation/Observation-Platelets-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" }, { "reference": "Observation/Observation-WhiteBloodCell-Example" }, { "reference": "Condition/Condition-Hepatosplenomegaly-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-BoneMarrowAspiration-Example" } ], "note": [ { "text": "No Previous Relevant Test Report" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M91" /> <display value="Acute Lymphoblastic Leukaemia" /> </coding> </code> <subject> <reference value="Patient/Patient-PatrickSammy-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-09-03T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithPathology-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="441308009" /> <display value="New diagnosis" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-BlastPercentage-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Bruising-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Haemoglobin-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Neutrophils-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NucleatedCellCount-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Platelets-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-WhiteBloodCell-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-Hepatosplenomegaly-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-BoneMarrowAspiration-Example" /> </specimen> <note> <text value="No Previous Relevant Test Report" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example
Example of an updated ServiceRequest (with additional version number and provenance history).
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example |
meta |
versionId : 2 |
lastUpdated : 2023-09-04T15:43:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : cancer-non-wgs |
display : Cancer - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : M91.4 |
display : Acute Lymphoblastic Leukaemia (FISH) |
subject |
reference : Patient/Patient-PatrickSammy-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-09-03T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithPathology-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 441308009 |
display : New diagnosis |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RR8 |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-BlastPercentage-Example |
supportingInfo |
reference : Observation/Observation-Bruising-Example |
supportingInfo |
reference : Observation/Observation-Haemoglobin-Example |
supportingInfo |
reference : Observation/Observation-Neutrophils-Example |
supportingInfo |
reference : Observation/Observation-NucleatedCellCount-Example |
supportingInfo |
reference : Observation/Observation-Platelets-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
supportingInfo |
reference : Observation/Observation-WhiteBloodCell-Example |
supportingInfo |
reference : Condition/Condition-Hepatosplenomegaly-Example |
specimen |
reference : Specimen/Specimen-BoneMarrowAspiration-Example |
note |
text : M code modified to M91.4. Appropriate testing |
note |
text : No Previous Relevant Test Report |
relevantHistory |
reference : Provenance/Provenance-ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example", "meta": { "versionId": "2", "lastUpdated": "2023-09-04T15:43:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M91.4", "display": "Acute Lymphoblastic Leukaemia (FISH)" } ] }, "subject": { "reference": "Patient/Patient-PatrickSammy-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-09-03T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithPathology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "441308009", "display": "New diagnosis" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RR8" } } ], "supportingInfo": [ { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-BlastPercentage-Example" }, { "reference": "Observation/Observation-Bruising-Example" }, { "reference": "Observation/Observation-Haemoglobin-Example" }, { "reference": "Observation/Observation-Neutrophils-Example" }, { "reference": "Observation/Observation-NucleatedCellCount-Example" }, { "reference": "Observation/Observation-Platelets-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" }, { "reference": "Observation/Observation-WhiteBloodCell-Example" }, { "reference": "Condition/Condition-Hepatosplenomegaly-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-BoneMarrowAspiration-Example" } ], "note": [ { "text": "M code modified to M91.4. Appropriate testing" }, { "text": "No Previous Relevant Test Report" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-HaemOncologyUpdated-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-09-04T15:43:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M91.4" /> <display value="Acute Lymphoblastic Leukaemia (FISH)" /> </coding> </code> <subject> <reference value="Patient/Patient-PatrickSammy-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-09-03T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithPathology-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RR8" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="441308009" /> <display value="New diagnosis" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-BlastPercentage-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Bruising-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Haemoglobin-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Neutrophils-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NucleatedCellCount-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Platelets-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-WhiteBloodCell-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-Hepatosplenomegaly-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-BoneMarrowAspiration-Example" /> </specimen> <note> <text value="M code modified to M91.4. Appropriate testing" /> </note> <note> <text value="No Previous Relevant Test Report" /> </note> <relevantHistory> <reference value="Provenance/Provenance-ServiceRequest-NonWGSTestOrderForm-HaemOncology-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example
Example of a ServiceRequest requested as a follow-up to an existing test. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example |
basedOn |
reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R65.1 |
display : Aminoglycoside exposure posing risk to hearing |
text : Follow Up Test requested to aid interpretation. M code modified to: R65.1 |
subject |
reference : Patient/Patient-AnitaLamberts-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303649 |
authoredOn : 2023-11-10T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-AndrewSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RJ1 |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
specimen |
reference : Specimen/Specimen-BloodEDTA-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis. |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example", "basedOn": [ { "reference": "ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example" } ], "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R65.1", "display": "Aminoglycoside exposure posing risk to hearing" } ], "text": "Follow Up Test requested to aid interpretation. M code modified to: R65.1" }, "subject": { "reference": "Patient/Patient-AnitaLamberts-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303649" } }, "authoredOn": "2023-11-10T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-AndrewSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RJ1" } } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-BloodEDTA-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis." } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceRequest/ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R65.1" /> <display value="Aminoglycoside exposure posing risk to hearing" /> </coding> <text value="Follow Up Test requested to aid interpretation. M code modified to: R65.1" /> </code> <subject> <reference value="Patient/Patient-AnitaLamberts-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303649" /> </identifier> </subject> <authoredOn value="2023-11-10T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-AndrewSmith-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RJ1" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-BloodEDTA-Example" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms / For example: Adult with CT-proven bronchiectasis, chronic suppurative chest infection with colonisation by Pseudomonas and Staph aureus. Intital test ordered for Cystic Fibrosis." /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
value |
reference : PractitionerRole/PractitionerRole-AnnaLane-Example |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : cancer-non-wgs |
display : Cancer - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : M3.2 |
display : Breast Cancer (Oncotype DX) |
subject |
reference : Patient/Patient-KayBurbridge-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303541 |
authoredOn : 2023-11-01T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithOncology-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RLU |
display : BIRMINGHAM WOMEN'S NHS FOUNDATION TRUST |
supportingInfo |
reference : Observation/Observation-CellularityKayBurbridge-Example |
supportingInfo |
reference : Observation/Observation-TumorTypeKayKayBurbridge-Example |
supportingInfo |
reference : Observation/Observation-NecrosisKayBurbridge-Example |
supportingInfo |
reference : Observation/Observation-NeoplasticCellKayBurbridge-Example |
supportingInfo |
reference : Condition/Condition-BreastCancer-Example |
specimen |
reference : Specimen/Specimen-TissueResection-Example |
note |
text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact", "valueReference": { "reference": "PractitionerRole/PractitionerRole-AnnaLane-Example" } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M3.2", "display": "Breast Cancer (Oncotype DX)" } ] }, "subject": { "reference": "Patient/Patient-KayBurbridge-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303541" } }, "authoredOn": "2023-11-01T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithOncology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RLU" }, "display": "BIRMINGHAM WOMEN'S NHS FOUNDATION TRUST" } ], "supportingInfo": [ { "reference": "Observation/Observation-CellularityKayBurbridge-Example" }, { "reference": "Observation/Observation-TumorTypeKayKayBurbridge-Example" }, { "reference": "Observation/Observation-NecrosisKayBurbridge-Example" }, { "reference": "Observation/Observation-NeoplasticCellKayBurbridge-Example" }, { "reference": "Condition/Condition-BreastCancer-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-TissueResection-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-OutOfCountry-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact"> <valueReference> <reference value="PractitionerRole/PractitionerRole-AnnaLane-Example" /> </valueReference> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M3.2" /> <display value="Breast Cancer (Oncotype DX)" /> </coding> </code> <subject> <reference value="Patient/Patient-KayBurbridge-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303541" /> </identifier> </subject> <authoredOn value="2023-11-01T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithOncology-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RLU" /> </identifier> <display value="BIRMINGHAM WOMEN'S NHS FOUNDATION TRUST" /> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-CellularityKayBurbridge-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-TumorTypeKayKayBurbridge-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NecrosisKayBurbridge-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NeoplasticCellKayBurbridge-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-BreastCancer-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-TissueResection-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ e.g. e.g. ER positive, HER2 negative. lymph node negative, early breast cancer. Use exisiting tissue sample sent to lab" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example
Example of a ServiceRequest using an existing specimen. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R134 |
display : Familial Hypercholesterolaemia |
subject |
reference : Patient/Patient-TimMclullichs-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303452 |
authoredOn : 2023-11-02T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-OscarShields-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 1186936003 |
display : Storage of specimen |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-DutchLipidScore-Example |
supportingInfo |
reference : Observation/Observation-QueryXanthoma-Example |
supportingInfo |
reference : Observation/Observation-SimonBroomeCriteria-Example |
specimen |
reference : Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example |
identifier |
system : https://fhir.bwc.nhs.uk//Id/specimenId |
value : RQ3-RTH-698C0-17543 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RQ3 |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R134", "display": "Familial Hypercholesterolaemia" } ] }, "subject": { "reference": "Patient/Patient-TimMclullichs-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303452" } }, "authoredOn": "2023-11-02T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-OscarShields-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "1186936003", "display": "Storage of specimen" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-DutchLipidScore-Example" }, { "reference": "Observation/Observation-QueryXanthoma-Example" }, { "reference": "Observation/Observation-SimonBroomeCriteria-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example", "identifier": [ { "system": "https://fhir.bwc.nhs.uk//Id/specimenId", "value": "RQ3-RTH-698C0-17543", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RQ3" } } } ] } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R134" /> <display value="Familial Hypercholesterolaemia" /> </coding> </code> <subject> <reference value="Patient/Patient-TimMclullichs-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303452" /> </identifier> </subject> <authoredOn value="2023-11-02T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-OscarShields-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="1186936003" /> <display value="Storage of specimen" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DutchLipidScore-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-QueryXanthoma-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-SimonBroomeCriteria-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example" /> <identifier> <system value="https://fhir.bwc.nhs.uk//Id/specimenId" /> <value value="RQ3-RTH-698C0-17543" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RQ3" /> </identifier> </assigner> </identifier> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage" /> </note> </ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-Cancellation-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderFormUpdated-Cancellation-Example |
meta |
versionId : 2 |
lastUpdated : 2023-08-08T15:43:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : revoked |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R67.1 |
display : Monogenic hearing loss |
subject |
reference : Patient/Patient-MeirLieberman-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-08-08T15:43:00Z |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-RiskOfInfection-Example |
supportingInfo |
reference : Observation/Observation-NatureAndAgeOfHearingLoss-Example |
specimen |
display : Specimen/Specimen-BloodEDTA-Example |
note |
text : Test no longer required. |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example |
relevantHistory |
reference : Provenance/Provenance-ServiceRequest-NonWGSTestOrderFormCancellation-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderFormUpdated-Cancellation-Example", "meta": { "versionId": "2", "lastUpdated": "2023-08-08T15:43:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "revoked", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.1", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-08T15:43:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-RiskOfInfection-Example" }, { "reference": "Observation/Observation-NatureAndAgeOfHearingLoss-Example" } ], "specimen": [ { "display": "Specimen/Specimen-BloodEDTA-Example" } ], "note": [ { "text": "Test no longer required." }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-ServiceRequest-NonWGSTestOrderFormCancellation-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderFormUpdated-Cancellation-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-08-08T15:43:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="revoked" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.1" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-08T15:43:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RiskOfInfection-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NatureAndAgeOfHearingLoss-Example" /> </supportingInfo> <specimen> <display value="Specimen/Specimen-BloodEDTA-Example" /> </specimen> <note> <text value="Test no longer required." /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms Patient in need of test...example" /> </note> <relevantHistory> <reference value="Provenance/Provenance-ServiceRequest-NonWGSTestOrderFormCancellation-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example |
meta |
versionId : 2 |
lastUpdated : 2023-09-26T10:00:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : urgent |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R21 |
display : Fetal anomalies with a likely genetic cause |
subject |
reference : Patient/Patient-FoetusOfRyanneBoulder-Example |
identifier |
system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
value : FT-RWT13521 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RAX |
authoredOn : 2023-09-26T10:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 243787009 |
display : Antenatal screening |
supportingInfo |
reference : Observation/Observation-HistoryOfFetalLoss-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-PregnancyConfirmation-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example |
supportingInfo |
reference : Procedure/Procedure-InVitroFertilisation-Example |
supportingInfo |
reference : Specimen/Specimen-BloodEDTA-Example |
supportingInfo |
reference : Specimen/Specimen-RyanneBoulderSaliva-Example |
supportingInfo |
reference : Specimen/Specimen-RyanneBoulderPartnerSaliva-Example |
note |
text : No family history of relevant testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder |
relevantHistory |
reference : Provenance/Provenance-NonWGSTestOrderForm-FetalScenario-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example", "meta": { "versionId": "2", "lastUpdated": "2023-09-26T10:00:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R21", "display": "Fetal anomalies with a likely genetic cause" } ] }, "subject": { "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example", "identifier": [ { "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24", "value": "FT-RWT13521", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RAX" } } } ] }, "authoredOn": "2023-09-26T10:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "243787009", "display": "Antenatal screening" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-HistoryOfFetalLoss-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-PregnancyConfirmation-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" }, { "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" }, { "reference": "Procedure/Procedure-InVitroFertilisation-Example" }, { "reference": "Specimen/Specimen-BloodEDTA-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderSaliva-Example" }, { "reference": "Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" } ], "note": [ { "text": "No family history of relevant testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-NonWGSTestOrderForm-FetalScenario-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderFormUpdated-FetalScenario-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-09-26T10:00:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R21" /> <display value="Fetal anomalies with a likely genetic cause" /> </coding> </code> <subject> <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" /> <identifier> <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" /> <value value="FT-RWT13521" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RAX" /> </identifier> </assigner> </identifier> </subject> <authoredOn value="2023-09-26T10:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="243787009" /> <display value="Antenatal screening" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-HistoryOfFetalLoss-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionRyanneBoulder-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-PregnancyConfirmation-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" /> </supportingInfo> <supportingInfo> <reference value="Procedure/Procedure-InVitroFertilisation-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-BloodEDTA-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderSaliva-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-RyanneBoulderPartnerSaliva-Example" /> </supportingInfo> <note> <text value="No family history of relevant testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" /> </note> <relevantHistory> <reference value="Provenance/Provenance-NonWGSTestOrderForm-FetalScenario-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-NonWGSTestOrderFormUpdated-SolidTumor-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-NonWGSTestOrderFormUpdated-SolidTumor-Example |
meta |
versionId : 3 |
lastUpdated : 2023-08-08T15:43:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact |
value |
reference : PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : cancer-non-wgs |
display : Cancer - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : M119.5 |
display : Multi Target NGS Panel Small |
subject |
reference : Patient/Patient-PatrickSammy-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307555 |
authoredOn : 2023-09-08 |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 335741000000100 |
display : Recurrence of tumour |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RJZ |
display : KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST |
supportingInfo |
reference : Observation/Observation-Cellularity-Example |
supportingInfo |
reference : Observation/Observation-TumorType-Example |
supportingInfo |
reference : Observation/Observation-Necrosis-Example |
supportingInfo |
reference : Observation/Observation-NeoplasticCell-Example |
supportingInfo |
reference : Condition/Condition-LungTumor-Example |
specimen |
reference : Specimen/Specimen-SolidTumor-Example |
note |
text : Additional portion of Sample X was provided. |
relevantHistory |
reference : Provenance/Provenance-NonWGSTestOrderFormUpdated-SolidTumor-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-NonWGSTestOrderFormUpdated-SolidTumor-Example", "meta": { "versionId": "3", "lastUpdated": "2023-08-08T15:43:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } }, { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact", "valueReference": { "reference": "PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "cancer-non-wgs", "display": "Cancer - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "M119.5", "display": "Multi Target NGS Panel Small" } ] }, "subject": { "reference": "Patient/Patient-PatrickSammy-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307555" } }, "authoredOn": "2023-09-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "335741000000100", "display": "Recurrence of tumour" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RJZ" }, "display": "KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" } ], "supportingInfo": [ { "reference": "Observation/Observation-Cellularity-Example" }, { "reference": "Observation/Observation-TumorType-Example" }, { "reference": "Observation/Observation-Necrosis-Example" }, { "reference": "Observation/Observation-NeoplasticCell-Example" }, { "reference": "Condition/Condition-LungTumor-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-SolidTumor-Example" } ], "note": [ { "text": "Additional portion of Sample X was provided." } ], "relevantHistory": [ { "reference": "Provenance/Provenance-NonWGSTestOrderFormUpdated-SolidTumor-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-NonWGSTestOrderFormUpdated-SolidTumor-Example" /> <meta> <versionId value="3" /> <lastUpdated value="2023-08-08T15:43:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-AdditionalContact"> <valueReference> <reference value="PractitionerRole/PractitionerRole-AnnaLaneKingstonPathology-Example" /> </valueReference> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="cancer-non-wgs" /> <display value="Cancer - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="M119.5" /> <display value="Multi Target NGS Panel Small" /> </coding> </code> <subject> <reference value="Patient/Patient-PatrickSammy-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307555" /> </identifier> </subject> <authoredOn value="2023-09-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithKingstonPathology-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RJZ" /> </identifier> <display value="KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST" /> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="335741000000100" /> <display value="Recurrence of tumour" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-Cellularity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-TumorType-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Necrosis-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NeoplasticCell-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-LungTumor-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-SolidTumor-Example" /> </specimen> <note> <text value="Additional portion of Sample X was provided." /> </note> <relevantHistory> <reference value="Provenance/Provenance-NonWGSTestOrderFormUpdated-SolidTumor-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-SavedTestOrder-Example
Example of a ServiceRequest retrieved from the central broker. After being saved on the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-SavedTestOrder-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
identifier |
system : https://fhir.nhs.uk/Id/GMSOrder |
value : ROA43728 |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R67.2 |
display : Monogenic hearing loss |
subject |
reference : Patient/Patient-MeirLieberman-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-08-05 |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Condition/Condition-HearingLoss-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-SavedTestOrder-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/GMSOrder", "value": "ROA43728" } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.2", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-05", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Condition/Condition-HearingLoss-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-SavedTestOrder-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <identifier> <system value="https://fhir.nhs.uk/Id/GMSOrder" /> <value value="ROA43728" /> </identifier> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.2" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-05" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-HearingLoss-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" /> </note> </ServiceRequest>
ServiceRequest-SavedTestOrderUpdated-CascadeTesting-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-SavedTestOrderUpdated-CascadeTesting-Example |
basedOn |
reference : ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example |
meta |
versionId : 2 |
lastUpdated : 2023-10-06T09:00:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R134 |
display : Familial Hypercholesterolaemia |
orderDetail |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R242.1 |
display : Predictive testing for known familial mutation(s) |
subject |
reference : Patient/Patient-FayMutlow-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307806 |
authoredOn : 2023-10-04T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-MarySmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 473145005 |
display : Possible familial hypercholesterolemia |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-DutchLipidScore-Example |
supportingInfo |
reference : Observation/Observation-QueryXanthoma-Example |
supportingInfo |
reference : Observation/Observation-SimonBroomeCriteria-Example |
specimen |
reference : Specimen/Specimen-FayMutlowBloodEDTA-Example |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
note |
text : Father tested positive for FH. Confirmation required if daughter is postive for FH |
relevantHistory |
reference : Provenance/Provenance-ServiceRequestUpdate-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-SavedTestOrderUpdated-CascadeTesting-Example", "basedOn": [ { "reference": "ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example" } ], "meta": { "versionId": "2", "lastUpdated": "2023-10-06T09:00:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R134", "display": "Familial Hypercholesterolaemia" } ] }, "orderDetail": [ { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R242.1", "display": "Predictive testing for known familial mutation(s)" } ] } ], "subject": { "reference": "Patient/Patient-FayMutlow-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307806" } }, "authoredOn": "2023-10-04T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-MarySmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "473145005", "display": "Possible familial hypercholesterolemia" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-DutchLipidScore-Example" }, { "reference": "Observation/Observation-QueryXanthoma-Example" }, { "reference": "Observation/Observation-SimonBroomeCriteria-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-FayMutlowBloodEDTA-Example" } ], "note": [ { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" }, { "text": "Father tested positive for FH. Confirmation required if daughter is postive for FH" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-ServiceRequestUpdate-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-SavedTestOrderUpdated-CascadeTesting-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-10-06T09:00:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <basedOn> <reference value="ServiceRequest-NonWGSTestOrderForm-FatherOfFayMutlow-Example" /> </basedOn> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R134" /> <display value="Familial Hypercholesterolaemia" /> </coding> </code> <orderDetail> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R242.1" /> <display value="Predictive testing for known familial mutation(s)" /> </coding> </orderDetail> <subject> <reference value="Patient/Patient-FayMutlow-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307806" /> </identifier> </subject> <authoredOn value="2023-10-04T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-MarySmith-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="473145005" /> <display value="Possible familial hypercholesterolemia" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DutchLipidScore-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-QueryXanthoma-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-SimonBroomeCriteria-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-FayMutlowBloodEDTA-Example" /> </specimen> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" /> </note> <note> <text value="Father tested positive for FH. Confirmation required if daughter is postive for FH" /> </note> <relevantHistory> <reference value="Provenance/Provenance-ServiceRequestUpdate-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-SavedTestOrderUpdated-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-SavedTestOrderUpdated-Example |
meta |
versionId : 2 |
lastUpdated : 2023-08-10T11:10:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
identifier |
system : https://fhir.nhs.uk/Id/GMSOrder |
value : ROA43728 |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-non-wgs |
display : Rare Disease - Non-WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R67.1 |
display : Monogenic hearing loss |
subject |
reference : Patient/Patient-MeirLieberman-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307873 |
authoredOn : 2023-08-05 |
requester |
reference : PractitionerRole/PractitionerRole-GeneSmithENT-Example |
identifier |
system : https://fhir.nhs.uk/Id/sds-user-id |
value : 9999999999 |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Condition/Condition-HearingLoss-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example |
relevantHistory |
reference : Provenance/Provenance-ServiceRequestUpdate-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-SavedTestOrderUpdated-Example", "meta": { "versionId": "2", "lastUpdated": "2023-08-10T11:10:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/GMSOrder", "value": "ROA43728" } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-non-wgs", "display": "Rare Disease - Non-WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R67.1", "display": "Monogenic hearing loss" } ] }, "subject": { "reference": "Patient/Patient-MeirLieberman-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307873" } }, "authoredOn": "2023-08-05", "requester": { "reference": "PractitionerRole/PractitionerRole-GeneSmithENT-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/sds-user-id", "value": "9999999999" } }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Condition/Condition-HearingLoss-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-ServiceRequestUpdate-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-SavedTestOrderUpdated-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-08-10T11:10:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <identifier> <system value="https://fhir.nhs.uk/Id/GMSOrder" /> <value value="ROA43728" /> </identifier> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-non-wgs" /> <display value="Rare Disease - Non-WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R67.1" /> <display value="Monogenic hearing loss" /> </coding> </code> <subject> <reference value="Patient/Patient-MeirLieberman-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307873" /> </identifier> </subject> <authoredOn value="2023-08-05" /> <requester> <reference value="PractitionerRole/PractitionerRole-GeneSmithENT-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/sds-user-id" /> <value value="9999999999" /> </identifier> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Condition/Condition-HearingLoss-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient in need of test...example" /> </note> <relevantHistory> <reference value="Provenance/Provenance-ServiceRequestUpdate-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-SavedTestOrderWGS-Example
Example of a ServiceRequest. After being saved on the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-SavedTestOrderWGS-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
identifier |
system : https://fhir.nhs.uk/Id/GMSOrder |
value : RAS61763 |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R193.4 |
display : Cystic renal disease |
subject |
reference : Patient/Patient-LindsaySorrell-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307946 |
authoredOn : 2023-08-08 |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-MultipleRenalCysts-Example |
supportingInfo |
reference : Observation/Observation-Nephronophthisis-Example |
supportingInfo |
reference : Observation/Observation-HepaticCysts-Example |
supportingInfo |
reference : Observation/Observation-EnlargedKidney-Example |
supportingInfo |
reference : Observation/Observation-RenalInsufficiency-Example |
supportingInfo |
reference : Consent/Consent-RoDToFollow-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example) |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-SavedTestOrderWGS-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "identifier": [ { "system": "https://fhir.nhs.uk/Id/GMSOrder", "value": "RAS61763" } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R193.4", "display": "Cystic renal disease" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "authoredOn": "2023-08-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-MultipleRenalCysts-Example" }, { "reference": "Observation/Observation-Nephronophthisis-Example" }, { "reference": "Observation/Observation-HepaticCysts-Example" }, { "reference": "Observation/Observation-EnlargedKidney-Example" }, { "reference": "Observation/Observation-RenalInsufficiency-Example" }, { "reference": "Consent/Consent-RoDToFollow-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-SavedTestOrderWGS-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <identifier> <system value="https://fhir.nhs.uk/Id/GMSOrder" /> <value value="RAS61763" /> </identifier> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R193.4" /> <display value="Cystic renal disease" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <authoredOn value="2023-08-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-MultipleRenalCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Nephronophthisis-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-HepaticCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-EnlargedKidney-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RenalInsufficiency-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoDToFollow-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" /> </note> </ServiceRequest>
ServiceRequest-TestOrderForm-StorageOfMaterial-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-TestOrderForm-StorageOfMaterial-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R346 |
display : DNA to be stored |
subject |
reference : Patient/Patient-TimMclullichs-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 8449303452 |
authoredOn : 2023-10-28T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-OscarShields-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 1186936003 |
display : Storage of specimen |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
note |
text : Specimen will be provided at a later date |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-TestOrderForm-StorageOfMaterial-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R346", "display": "DNA to be stored" } ] }, "subject": { "reference": "Patient/Patient-TimMclullichs-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "8449303452" } }, "authoredOn": "2023-10-28T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-OscarShields-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "1186936003", "display": "Storage of specimen" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" } ], "note": [ { "text": "Specimen will be provided at a later date" }, { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-TestOrderForm-StorageOfMaterial-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R346" /> <display value="DNA to be stored" /> </coding> </code> <subject> <reference value="Patient/Patient-TimMclullichs-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="8449303452" /> </identifier> </subject> <authoredOn value="2023-10-28T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-OscarShields-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="1186936003" /> <display value="Storage of specimen" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <note> <text value="Specimen will be provided at a later date" /> </note> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, transplant, life status at time of request details/ E.g. DNA to be stored for future testing" /> </note> </ServiceRequest>
ServiceRequest-WGSTestOrderForm-DirectToLab-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-WGSTestOrderForm-DirectToLab-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : urgent |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R14 |
display : Acutely unwell children with a likely monogenic disorder |
subject |
reference : Patient/Patient-JamesMetcalfe-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 7449306524 |
authoredOn : 2023-10-01T15:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RH8 |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-DiseasePenetrance-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-Immunodefficiency-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Consent/Consent-RoDToFollow-Example |
specimen |
reference : Specimen/Specimen-JamesMetcalfeBloodEDTA-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
note |
text : E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-WGSTestOrderForm-DirectToLab-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R14", "display": "Acutely unwell children with a likely monogenic disorder" } ] }, "subject": { "reference": "Patient/Patient-JamesMetcalfe-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "7449306524" } }, "authoredOn": "2023-10-01T15:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RH8" } } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-DiseasePenetrance-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-Immunodefficiency-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Consent/Consent-RoDToFollow-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-JamesMetcalfeBloodEDTA-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" }, { "text": "E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-WGSTestOrderForm-DirectToLab-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R14" /> <display value="Acutely unwell children with a likely monogenic disorder" /> </coding> </code> <subject> <reference value="Patient/Patient-JamesMetcalfe-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="7449306524" /> </identifier> </subject> <authoredOn value="2023-10-01T15:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-EugeneSmith-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RH8" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseasePenetrance-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Immunodefficiency-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoDToFollow-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-JamesMetcalfeBloodEDTA-Example" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" /> </note> <note> <text value="E.g.  non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child  and molecular testing needed to guide management" /> </note> </ServiceRequest>
ServiceRequest-WGSTestOrderForm-Example
Example of a ServiceRequest. The scenario this is for is detailed on WGS Test Request - Rare Disease
ServiceRequest |
id : ServiceRequest-WGSTestOrderForm-Example |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R193.4 |
display : Cystic renal disease |
subject |
reference : Patient/Patient-LindsaySorrell-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307946 |
authoredOn : 2023-08-08 |
requester |
reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-MultipleRenalCysts-Example |
supportingInfo |
reference : Observation/Observation-Nephronophthisis-Example |
supportingInfo |
reference : Observation/Observation-HepaticCysts-Example |
supportingInfo |
reference : Observation/Observation-EnlargedKidney-Example |
supportingInfo |
reference : Observation/Observation-RenalInsufficiency-Example |
supportingInfo |
reference : Consent/Consent-RoDToFollow-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example) |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-WGSTestOrderForm-Example", "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R193.4", "display": "Cystic renal disease" } ] }, "subject": { "reference": "Patient/Patient-LindsaySorrell-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307946" } }, "authoredOn": "2023-08-08", "requester": { "reference": "PractitionerRole/PractitionerRole-HazelSmithRenal-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "supportingInfo": [ { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-MultipleRenalCysts-Example" }, { "reference": "Observation/Observation-Nephronophthisis-Example" }, { "reference": "Observation/Observation-HepaticCysts-Example" }, { "reference": "Observation/Observation-EnlargedKidney-Example" }, { "reference": "Observation/Observation-RenalInsufficiency-Example" }, { "reference": "Consent/Consent-RoDToFollow-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-WGSTestOrderForm-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R193.4" /> <display value="Cystic renal disease" /> </coding> </code> <subject> <reference value="Patient/Patient-LindsaySorrell-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307946" /> </identifier> </subject> <authoredOn value="2023-08-08" /> <requester> <reference value="PractitionerRole/PractitionerRole-HazelSmithRenal-Example" /> </requester> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-MultipleRenalCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Nephronophthisis-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-HepaticCysts-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-EnlargedKidney-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-RenalInsufficiency-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoDToFollow-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" /> </note> </ServiceRequest>
ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example
Example of a ServiceRequest. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.
ServiceRequest |
id : ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example |
identifier |
system : https://fhir.leedssth.nhs.uk//Id/grouptestId |
value : RR-REQ12764 |
assigner |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RR8 |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R98.2 |
display : Likely inborn error of metabolism |
text : This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s |
subject |
reference : Patient/Patient-PheobeSmitham-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307539 |
authoredOn : 2023-09-15T15:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : R0A |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-DiseasePenetrancePheobeSmitham-Example |
supportingInfo |
reference : Observation/Observation-IntellectualDisabilityProfound-Example |
supportingInfo |
reference : Observation/Observation-IntellectualDisabilityMild-Example |
supportingInfo |
reference : Observation/Observation-AutisticBehaviour-Example |
supportingInfo |
reference : Observation/Observation-DelayedSpeech-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionProband-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionProbandFather-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionMother-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplantProbandFather-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplantProbandMother-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusionProbandFather-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusionProbandMother-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmitham-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmithamFather-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmithamMother-Example |
supportingInfo |
reference : Consent/Consent-RoD-PheobeSmitham-Example |
supportingInfo |
reference : Consent/Consent-RoD-PheobeSmithamMother-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT. |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example", "identifier": [ { "system": "https://fhir.leedssth.nhs.uk//Id/grouptestId", "value": "RR-REQ12764", "assigner": { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RR8" } } } ], "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "routine", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R98.2", "display": "Likely inborn error of metabolism" } ], "text": "This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s" }, "subject": { "reference": "Patient/Patient-PheobeSmitham-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "9449307539" } }, "authoredOn": "2023-09-15T15:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "R0A" } } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example" }, { "reference": "Observation/Observation-IntellectualDisabilityProfound-Example" }, { "reference": "Observation/Observation-IntellectualDisabilityMild-Example" }, { "reference": "Observation/Observation-AutisticBehaviour-Example" }, { "reference": "Observation/Observation-DelayedSpeech-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnionProband-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnionMother-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplantProbandFather-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplantProbandMother-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Observation/Observation-NoTransfusionProbandFather-Example" }, { "reference": "Observation/Observation-NoTransfusionProbandMother-Example" }, { "reference": "Specimen/Specimen-PheobeSmitham-Example" }, { "reference": "Specimen/Specimen-PheobeSmithamFather-Example" }, { "reference": "Specimen/Specimen-PheobeSmithamMother-Example" }, { "reference": "Consent/Consent-RoD-PheobeSmitham-Example" }, { "reference": "Consent/Consent-RoD-PheobeSmithamMother-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT." } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example" /> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <identifier> <system value="https://fhir.leedssth.nhs.uk//Id/grouptestId" /> <value value="RR-REQ12764" /> <assigner> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RR8" /> </identifier> </assigner> </identifier> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="routine" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R98.2" /> <display value="Likely inborn error of metabolism" /> </coding> <text value="This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s" /> </code> <subject> <reference value="Patient/Patient-PheobeSmitham-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="9449307539" /> </identifier> </subject> <authoredOn value="2023-09-15T15:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="R0A" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseasePenetrancePheobeSmitham-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-IntellectualDisabilityProfound-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-IntellectualDisabilityMild-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-AutisticBehaviour-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DelayedSpeech-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnionProband-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnionProbandFather-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnionMother-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplantProbandFather-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplantProbandMother-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusionProbandFather-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusionProbandMother-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-PheobeSmitham-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-PheobeSmithamFather-Example" /> </supportingInfo> <supportingInfo> <reference value="Specimen/Specimen-PheobeSmithamMother-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoD-PheobeSmitham-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoD-PheobeSmithamMother-Example" /> </supportingInfo> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT." /> </note> </ServiceRequest>
ServiceRequest-WGSTestOrderFormUpdated-DirectToLab-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-WGSTestOrderFormUpdated-DirectToLab-Example |
meta |
versionId : 2 |
lastUpdated : 2023-10-10T16:00:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : urgent |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R14 |
display : Acutely unwell children with a likely monogenic disorder |
subject |
reference : Patient/Patient-JamesMetcalfe-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 7449306524 |
authoredOn : 2023-10-10T11:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : RH8 |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-DiseasePenetrance-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnion-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-Immunodefficiency-Example |
supportingInfo |
reference : Observation/Observation-NoTransfusion-Example |
supportingInfo |
reference : Consent/Consent-RoDYoungPersonAssentFormAvailable-Example |
specimen |
reference : Specimen/Specimen-JamesMetcalfeBloodEDTA-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms |
note |
text : E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management |
relevantHistory |
reference : Provenance/Provenance-WGSTestOrderForm-DirectToLab-Example |
{ "resourceType": "ServiceRequest", "id": "ServiceRequest-WGSTestOrderFormUpdated-DirectToLab-Example", "meta": { "versionId": "2", "lastUpdated": "2023-10-10T16:00:00Z" }, "extension": [ { "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage", "valueCodeableConcept": { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory", "code": "nhs", "display": "NHS" } ] } } ], "status": "active", "intent": "order", "category": [ { "coding": [ { "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", "code": "rare-disease-wgs", "display": "Rare Disease - WGS" } ] } ], "priority": "urgent", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory", "code": "R14", "display": "Acutely unwell children with a likely monogenic disorder" } ] }, "subject": { "reference": "Patient/Patient-JamesMetcalfe-Example", "identifier": { "system": "https://fhir.nhs.uk/Id/nhs-number", "value": "7449306524" } }, "authoredOn": "2023-10-10T11:00:00Z", "requester": { "reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example" }, "reasonCode": [ { "coding": [ { "system": "http://snomed.info/sct", "code": "103693007", "display": "Diagnostic procedure" } ] } ], "performer": [ { "identifier": { "system": "https://fhir.nhs.uk/Id/ods-organization-code", "value": "RH8" } } ], "supportingInfo": [ { "reference": "Observation/Observation-GenomicEthnicity-Example" }, { "reference": "Observation/Observation-NoPregnancy-Example" }, { "reference": "Observation/Observation-DiseaseStatus-Example" }, { "reference": "Observation/Observation-DiseasePenetrance-Example" }, { "reference": "Observation/Observation-NonConsanguinousUnion-Example" }, { "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" }, { "reference": "Observation/Observation-NoBoneMarrowTransplant-Example" }, { "reference": "Observation/Observation-Immunodefficiency-Example" }, { "reference": "Observation/Observation-NoTransfusion-Example" }, { "reference": "Consent/Consent-RoDYoungPersonAssentFormAvailable-Example" } ], "specimen": [ { "reference": "Specimen/Specimen-JamesMetcalfeBloodEDTA-Example" } ], "note": [ { "text": "No family history of genomic testing" }, { "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" }, { "text": "E.g. non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child and molecular testing needed to guide management" } ], "relevantHistory": [ { "reference": "Provenance/Provenance-WGSTestOrderForm-DirectToLab-Example" } ] }
<ServiceRequest xmlns="http://hl7.org/fhir"> <id value="ServiceRequest-WGSTestOrderFormUpdated-DirectToLab-Example" /> <meta> <versionId value="2" /> <lastUpdated value="2023-10-10T16:00:00Z" /> </meta> <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage"> <valueCodeableConcept> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" /> <code value="nhs" /> <display value="NHS" /> </coding> </valueCodeableConcept> </extension> <status value="active" /> <intent value="order" /> <category> <coding> <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" /> <code value="rare-disease-wgs" /> <display value="Rare Disease - WGS" /> </coding> </category> <priority value="urgent" /> <code> <coding> <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" /> <code value="R14" /> <display value="Acutely unwell children with a likely monogenic disorder" /> </coding> </code> <subject> <reference value="Patient/Patient-JamesMetcalfe-Example" /> <identifier> <system value="https://fhir.nhs.uk/Id/nhs-number" /> <value value="7449306524" /> </identifier> </subject> <authoredOn value="2023-10-10T11:00:00Z" /> <requester> <reference value="PractitionerRole/PractitionerRole-EugeneSmith-Example" /> </requester> <performer> <identifier> <system value="https://fhir.nhs.uk/Id/ods-organization-code" /> <value value="RH8" /> </identifier> </performer> <reasonCode> <coding> <system value="http://snomed.info/sct" /> <code value="103693007" /> <display value="Diagnostic procedure" /> </coding> </reasonCode> <supportingInfo> <reference value="Observation/Observation-GenomicEthnicity-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoPregnancy-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseaseStatus-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-DiseasePenetrance-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-Immunodefficiency-Example" /> </supportingInfo> <supportingInfo> <reference value="Observation/Observation-NoTransfusion-Example" /> </supportingInfo> <supportingInfo> <reference value="Consent/Consent-RoDYoungPersonAssentFormAvailable-Example" /> </supportingInfo> <specimen> <reference value="Specimen/Specimen-JamesMetcalfeBloodEDTA-Example" /> </specimen> <note> <text value="No family history of genomic testing" /> </note> <note> <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms" /> </note> <note> <text value="E.g.  non genetic investigations are pathognomonic of a single gene disorder, R26 previously ordered on the child  and molecular testing needed to guide management" /> </note> <relevantHistory> <reference value="Provenance/Provenance-WGSTestOrderForm-DirectToLab-Example" /> </relevantHistory> </ServiceRequest>
ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example
Example of a ServiceRequest which has been modified. After modification, the ServiceRequest SHALL include a meta.lastUpdated element and a relevantHitory element referencing the provenance resource detailing the change.
ServiceRequest |
id : ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example |
meta |
versionId : 2 |
lastUpdated : 2023-10-09T09:15:00Z |
extension |
url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
value |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
code : nhs |
display : NHS |
requisition |
assigner |
identifier |
system : https://fhir.leedsth.nhs.uk/Id/grouptestId |
value : RR8F1792 |
status : active |
intent : order |
category |
coding |
system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
code : rare-disease-wgs |
display : Rare Disease - WGS |
priority : routine |
code |
coding |
system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
code : R98.2 |
display : Likely inborn error of metabolism |
text : This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s |
subject |
reference : Patient/Patient-PheobeSmitham-Example |
identifier |
system : https://fhir.nhs.uk/Id/nhs-number |
value : 9449307539 |
authoredOn : 2023-09-15T15:00:00Z |
requester |
reference : PractitionerRole/PractitionerRole-EugeneSmith-Example |
reasonCode |
coding |
system : http://snomed.info/sct |
code : 103693007 |
display : Diagnostic procedure |
performer |
identifier |
system : https://fhir.nhs.uk/Id/ods-organization-code |
value : R0A |
supportingInfo |
reference : Observation/Observation-GenomicEthnicity-Example |
supportingInfo |
reference : Observation/Observation-NoPregnancy-Example |
supportingInfo |
reference : Observation/Observation-DiseaseStatus-Example |
supportingInfo |
reference : Observation/Observation-DiseasePenetrancePheobeSmitham-Example |
supportingInfo |
reference : Observation/Observation-IntellectualDisabilityProfound-Example |
supportingInfo |
reference : Observation/Observation-IntellectualDisabilityMild-Example |
supportingInfo |
reference : Observation/Observation-AutisticBehaviour-Example |
supportingInfo |
reference : Observation/Observation-DelayedSpeech-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionProband-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionProbandFather-Example |
supportingInfo |
reference : Observation/Observation-NonConsanguinousUnionMother-Example |
supportingInfo |
reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplant-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplantProbandFather-Example |
supportingInfo |
reference : Observation/Observation-NoBoneMarrowTransplantProbandMother-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmitham-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmithamFather-Example |
supportingInfo |
reference : Specimen/Specimen-PheobeSmithamMother-Example |
supportingInfo |
reference : Consent/Consent-RoD-PheobeSmitham-Example |
supportingInfo |
reference : Consent/Consent-RoD-PheobeSmithamMother-Example |
supportingInfo |
reference : Consent/Consent-RoD-PheobeSmithamFather-Example |
note |
text : No family history of genomic testing |
note |
text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. Not eligible for R14 or R98. Agreed with testing laboratory at Manchester. Father lives in surrey. Father to have sample taken locally and sent to MFT. |
relevantHistory |
reference : Provenance/Provenance-WGSTestOrderForm-TrioTestingProbandFather-Example |
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