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KazeemHamzatKazeemHamzat
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Feature-IOPS-2386-WGS-Test-Order-Form-Duo/Trio-Testing-(family-sample) (#52)
* Add SR Resources Add SR Resources * Add Task Resources Add Task Resources * Update Task-WGSRareDiseaseTestOrderCompleted-ProbandFather-Example Update Task-WGSRareDiseaseTestOrderCompleted-ProbandFather-Example * Add Obs & RelatedPerson Resources Add Obs & RelatedPerson Resources * Add FMH Resource Add FMH Resource * Changes to URL From CodeSystem/UKCore-NHSNumberVerificationStatus to CodeSystem/UKCore-NHSNumberVerificationStatusEngland * Changes to URL 1. UKCore-NHSNumberVerificationStatusEngland 2.SR * Update SR. Task & Consent Update SR. Task & Consent * Update Task Update Task * Update Task Update to Task ID * Add Consent Resource Add Consent Resource and update SR Resource * Add Provenance Resource Add Provenance Resource Remove OBS-IntellectualMild Update SR-updated * Add additional Consent & Response Add additional Consent & Response * Add OBS-Consanguinous for Proband Parent Add OBS-Consanguinous for Proband Parent * Update QResponse-CDForm Change position of Date & Signature * Add FMH Resources Add FMH Resources for Proband Parent
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Lines changed: 2603 additions & 22 deletions

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‎Consent/Consent-RoD-PheobeSmitham-Example.json‎

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{
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"resourceType": "Consent",
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"id": "Consent-RoD-PheobeSmitham-Example",
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"status": "active",
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"scope": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentscope",
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"code": "research",
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"display": "Research"
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}
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]
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},
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"category": [
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{
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes",
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"code": "research",
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"display": "Research Information Access"
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}
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]
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}
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],
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"patient":{
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"reference":"Patient/Patient-PheobeSmitham-Example"
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},
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"sourceReference": {
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
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},
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"policy": [
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{
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"authority": "https://www.england.nhs.uk",
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"uri": "https://www.england.nhs.uk/wp-content/uploads/2021/09/nhs-genomic-medicine-service-genomic-consultee-declaration-1.pdf"
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}
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]
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}

‎Consent/Consent-RoD-PheobeSmithamFather-Example.json‎

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{
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"resourceType": "Consent",
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"id": "Consent-RoD-PheobeSmithamFather-Example",
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"status": "active",
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"scope": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentscope",
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"code": "research",
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"display": "Research"
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}
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]
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},
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"category": [
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{
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes",
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"code": "research",
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"display": "Research Information Access"
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}
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]
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}
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],
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"patient": {
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"reference": "Patient/Patient-PheobeSmithamFather-Example"
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},
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"sourceReference": {
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example"
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},
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"policy": [
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{
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"authority": "https://www.england.nhs.uk",
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"uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form"
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}
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]
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}

‎Consent/Consent-RoD-PheobeSmithamMother-Example.json‎

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{
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"resourceType": "Consent",
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"id": "Consent-RoD-PheobeSmithamMother-Example",
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"status": "active",
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"scope": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentscope",
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"code": "research",
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"display": "Research"
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}
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]
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},
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"category": [
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{
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes",
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"code": "research",
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"display": "Research Information Access"
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}
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]
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}
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],
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"patient": {
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"reference": "Patient/Patient-PheobeSmithamMother-Example"
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},
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"sourceReference": {
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example"
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},
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"policy": [
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{
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"authority": "https://www.england.nhs.uk",
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"uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form"
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}
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]
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}

‎Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example.json‎

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{
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"resourceType": "Consent",
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"id": "Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example",
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"status": "active",
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"scope": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentscope",
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"code": "research",
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"display": "Research"
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}
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]
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},
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"category": [
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{
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/consentcategorycodes",
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"code": "research",
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"display": "Research Information Access"
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}
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]
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}
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],
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"patient": {
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"sourceReference": {
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
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},
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"policy": [
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{
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"authority": "https://www.england.nhs.uk",
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"uri": "https://www.england.nhs.uk/wp-content/uploads/2021/09/nhs-genomic-medicine-service-young-persons-assent-form.pdf"
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}
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]
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}

‎Consent/Consent-RoDYoungPersonAssentFormAvailable-Example.json‎

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]
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}
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],
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"patient": {
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"sourceReference": {
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-YoungPersonAssentForm-Example"
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},

‎DiagnosticReport/DiagnosticReport-PhoebeSmithGeneticReport-Example.json‎

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{
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"resourceType": "DiagnosticReport",
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"id": "DiagnosticReport-PhoebeSmithGeneticReport-Example",
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"identifier": [
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{
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"system": "https://mft.nhs.uk//nwglh/lims",
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"value": "SLC52A2_GenomicReport",
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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": "R0A"
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}
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}
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}
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],
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"basedOn": [
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{
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"reference": "ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example"
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}
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],
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"status": "final",
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"category": [
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{
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
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"code": "GE",
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"display": "Genetics"
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}
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]
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}
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],
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"code": {
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"coding": [
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{
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"system": "http://snomed.info/sct",
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"code": "1054161000000101",
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"display": "Genetic report"
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}
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]
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},
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"subject": {
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"issued": "2023-10-16T15:50:00Z",
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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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"specimen": [
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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": "Specimen/Specimen-PheobeSmithamFather-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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"conclusionCode": [
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{
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"coding": [
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{
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"system": "http://snomed.info/sct",
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"code": "699866005",
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"display": "Brown-Vialetto-Van Laere syndrome"
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}
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],
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"text": "Brown-Vialetto-Van Laere syndrome 2"
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}
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],
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"presentedForm": [
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{
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"contentType": "application/pdf",
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"language": "en-GB",
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"url": "https://cts5j3.axshare.com/?id=mhxwul&p=final_report_issued_test_complete&g=1",
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"size": 43272,
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"title": "Genomic Report for Pheobe Smitham",
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"creation": "2023-10-16"
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}
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]
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}

‎FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionProband-Example.json‎

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{
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"resourceType": "FamilyMemberHistory",
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"id": "FamilyMemberHistory-NonConsanguinousUnionProband-Example",
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"extension": [
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{
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"url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
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"valueReference": {
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"reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
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}
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}
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],
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"status": "completed",
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"patient": {
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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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"relationship": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
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"code": "PRN",
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"display": "parent"
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}
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]
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}
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}

‎FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example.json‎

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{
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"resourceType": "FamilyMemberHistory",
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"id": "FamilyMemberHistory-NonConsanguinousUnionProbandFather-Example",
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"extension": [
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{
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"url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
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"valueReference": {
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"reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example"
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}
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}
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],
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"status": "completed",
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"patient": {
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"reference": "Patient/Patient-PheobeSmithamFather-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307636"
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}
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},
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"relationship": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
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"code": "PRN",
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"display": "parent"
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}
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]
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}
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}

‎FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnionProbandMother-Example.json‎

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{
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"resourceType": "FamilyMemberHistory",
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"id": "FamilyMemberHistory-NonConsanguinousUnionProbandMother-Example",
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"extension": [
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{
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"url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
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"valueReference": {
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"reference": "Observation/Observation-NonConsanguinousUnionProbandMother-Example"
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}
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}
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],
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"status": "completed",
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"patient": {
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"reference": "Patient/Patient-PheobeSmithamMother-Example",
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"identifier": {
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"system": "https://fhir.nhs.uk/Id/nhs-number",
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"value": "9449307246"
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}
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},
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"relationship": {
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"coding": [
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{
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"system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
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"code": "PRN",
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"display": "parent"
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}
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]
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}
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}

‎Observation/Observation-AutisticBehaviour-Example.json‎

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{
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"resourceType": "Observation",
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"id": "Observation-AutisticBehaviour-Example",
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"status": "final",
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"code": {
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"coding": [
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{
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"system": "https://hpo.jax.org/app/",
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"code": "HP:0000729",
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"display": "Autistic behaviour"
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}
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]
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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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"effectiveDateTime": "2023-09-15T15:00:00Z",
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"valueBoolean": true
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}

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