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KazeemHamzatKazeemHamzat
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Updating SR for Trio Testing
Updating the SR to create for family members and linked them with a Req. ID
1 parent ab70b50 commit aca0302

4 files changed

+589
-370
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‎ServiceRequest/ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example.json‎

Lines changed: 154 additions & 177 deletions
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@@ -1,185 +1,162 @@
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{
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"resourceType": "ServiceRequest",
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"id": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example",
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"identifier": [
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{
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"system": "https://fhir.leedssth.nhs.uk//Id/grouptestId",
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"value": "RR-REQ12764",
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"assigner": {
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "RR8"
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}
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}
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}
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],
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"extension": [
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{
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"url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
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"code": "nhs-england",
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"display": "NHS England"
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}
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]
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}
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}
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],
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"status": "active",
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"intent": "order",
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"category": [
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{
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"coding": [
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{
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"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
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"code": "rare-disease-wgs",
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"display": "Rare Disease - WGS"
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}
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]
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},
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{
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "diagnostic",
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"display": "Diagnostic"
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}
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]
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}
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],
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"priority": "routine",
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"code": {
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"resourceType": "ServiceRequest",
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"id": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/GMSOrder",
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"value": "RR8F1792"
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}
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],
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"extension": [
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{
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"url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role",
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
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"code": "R98.2",
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"display": "Likely inborn error of metabolism",
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"version": "7"
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}
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],
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"text": "This is a Trio Testing, comprising 3 family members with their respective specimen`s & Record Of Discussion`s"
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},
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"subject": {
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"reference": "Patient/Patient-PheobeSmitham-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307539"
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}
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{
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"system": "https://fhir.nhs.uk/CodeSystem/genomics-patient-role",
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"code": "proband",
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"display": "Proband"
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}
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]
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}
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},
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"authoredOn": "2023-09-15T15:00:00Z",
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"requester": {
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"reference": "PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example"
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},
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"reasonReference": [
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{
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"reference": "Condition/Condition-InbornErrorOfMetabolism-Example"
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}
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],
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"performer": [
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{
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "R0A"
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}
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{
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"url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
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"code": "nhs-england",
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"display": "NHS England"
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}
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]
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}
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}
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],
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"requisition": {
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"system": "https://fhir.leedssth.nhs.uk//Id/grouptestId",
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"value": "RR-REQ12764",
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"assigner": {
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "RR8"
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}
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}
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},
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"status": "active",
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"intent": "order",
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"category": [
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{
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"coding": [
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{
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"system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
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"code": "rare-disease-wgs",
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"display": "Rare Disease - WGS"
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}
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],
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"supportingInfo": [
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{
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"reference": "Observation/Observation-AutisticBehaviour-Example"
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},
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{
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"reference": "Observation/Observation-DelayedSpeechLanguageDevt-Example"
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},
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{
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"reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
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},
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{
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"reference": "Observation/Observation-IntellectualDisabilityProfound-Example"
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},
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{
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"reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
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},
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{
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"reference": "Specimen/Specimen-PheobeSmitham-Example"
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},
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{
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"reference": "Observation/Observation-GenomicEthnicity-Example"
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},
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{
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"reference": "Observation/Observation-NoPregnancy-Example"
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},
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{
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"reference": "Condition/Condition-MonogenicHearingLoss-Example"
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},
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{
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"reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
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},
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{
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"reference": "Observation/Observation-NoTransfusion-Example"
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},
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{
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"reference": "Patient/Patient-PheobeSmithamMother-Example"
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},
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{
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"reference": "RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example"
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},
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{
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"reference": "Specimen/Specimen-PheobeSmithamMother-Example"
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},
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{
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"reference": "Observation/Observation-NonConsanguinousUnionMother-Example"
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},
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{
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"reference": "Observation/Observation-NoTransfusionProbandMother-Example"
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},
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{
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"reference": "Observation/Observation-NoBoneMarrowTransplantProbandMother-Example"
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},
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{
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"reference": "Patient/Patient-PheobeSmithamFather-Example"
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},
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{
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"reference": "RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example"
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},
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{
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"reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example"
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},
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{
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"reference": "Observation/Observation-NoTransfusionProbandFather-Example"
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},
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{
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"reference": "Observation/Observation-NoBoneMarrowTransplantProbandFather-Example"
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},
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{
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"reference": "Observation/Observation-IntellectualDisabilityMild-Example"
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},
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{
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"reference": "Consent/Consent-RoD-PheobeSmitham-Example"
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},
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{
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"reference": "Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
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},
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{
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"reference": "Consent/Consent-RoD-PheobeSmithamMother-Example"
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},
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{
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
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},
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{
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
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},
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]
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},
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{
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"coding": [
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{
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example"
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"system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
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"code": "diagnostic",
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"display": "Diagnostic"
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}
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]
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}
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],
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"priority": "routine",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
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"code": "R98.2",
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"display": "Likely inborn error of metabolism",
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"version": "7"
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}
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],
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"note": [
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{
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"text": "No family history of genomic testing"
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},
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{
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"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."
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}
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]
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"text": "This is a Trio Testing, this ServiceRequest generates a Requisition ID that linked the proband and consultands"
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},
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"subject": {
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"reference": "Patient/Patient-PheobeSmitham-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307539"
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}
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},
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"authoredOn": "2026-01-13T15:00:00Z",
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"requester": {
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"reference": "PractitionerRole/PractitionerRole-EugeneSmithLeedsSTH-Example"
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},
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"reasonReference": [
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{
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"reference": "Condition/Condition-InbornErrorOfMetabolism-Example"
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}
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],
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"performer": [
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{
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/ods-organization-code",
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"value": "R0A"
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}
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}
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],
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"supportingInfo": [
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{
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"reference": "Observation/Observation-AutisticBehaviour-Example"
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},
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{
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"reference": "Observation/Observation-DelayedSpeechLanguageDevt-Example"
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},
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{
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"reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
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},
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{
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"reference": "Observation/Observation-IntellectualDisabilityProfound-Example"
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},
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{
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"reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
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},
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{
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"reference": "Specimen/Specimen-PheobeSmitham-Example"
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},
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{
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"reference": "Observation/Observation-GenomicEthnicity-Example"
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},
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{
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"reference": "Observation/Observation-NoPregnancy-Example"
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},
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{
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"reference": "Condition/Condition-MonogenicHearingLoss-Example"
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},
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{
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"reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
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},
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{
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"reference": "Observation/Observation-NoTransfusion-Example"
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},
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{
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"reference": "Observation/Observation-IntellectualDisabilityMild-Example"
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},
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{
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"reference": "Consent/Consent-RoD-PheobeSmitham-Example"
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},
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{
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"reference": "Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
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},
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{
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
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},
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{
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
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}
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],
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"note": [
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{
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"text": "No family history of genomic testing"
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},
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{
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"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."
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}
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]
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}

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