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Revert "Updating references to URLs"
This reverts commit 760ba11.
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‎Bundle/Bundle-EULabGenomicReport-Example.json‎

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Original file line numberDiff line numberDiff line change
@@ -27,19 +27,19 @@
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/composition-basedOn-order-or-requisition",
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"valueReference": {
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"reference": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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}
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},
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{
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"url": "http://hl7.eu/fhir/StructureDefinition/information-recipient",
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"valueReference": {
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"reference": "http://example.org/fhir/PractitionerRole/PractitionerRole-EugeneSmith-Example"
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"reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
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}
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},
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{
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"url": "http://hl7.eu/fhir/laboratory/StructureDefinition/composition-diagnosticReportReference",
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"valueReference": {
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"reference": "http://example.org/fhir/DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example"
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"reference": "DiagnosticReport/DiagnosticReport-GenomicVariantAssessment-Example"
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}
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}
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],
@@ -74,7 +74,7 @@
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}
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],
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example"
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"date": "2023-10-16T00:00:00-05:00",
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"author": [
@@ -100,10 +100,10 @@
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},
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"entry": [
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicTherapeuticImplication-Example"
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"reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicsVariantSLC52A2-Example"
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"reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
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}
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]
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}
@@ -126,13 +126,13 @@
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{
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"url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.composition",
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"valueReference": {
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"reference": "http://example.org/fhir/Composition/Composition-EULabGenomicReport-Example"
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"reference": "Composition/Composition-EULabGenomicReport-Example"
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}
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},
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{
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"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
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"valueReference": {
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"reference": "http://example.org/fhir/Task/Task-FollowupRecommendationReport-Example",
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"reference": "Task/Task-FollowupRecommendationReport-Example",
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"display": "Confirmatory testing recommended"
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}
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},
@@ -172,7 +172,7 @@
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],
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"basedOn": [
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{
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"reference": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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}
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],
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"status": "final",
@@ -205,7 +205,7 @@
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]
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},
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example"
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"effectiveDateTime": "2023-10-16T00:00:00-05:00",
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"issued": "2023-09-16T00:00:00-05:00",
@@ -233,19 +233,19 @@
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{
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"url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-DiagnosticReport.media.link",
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"valueReference": {
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"reference": "http://example.org/fhir/DocumentReference/DocumentReference-StructureReporting-Example"
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"reference": "DocumentReference/DocumentReference-StructureReporting-Example"
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}
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}
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]
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}
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],
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"result": [
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicsVariant-SLC52A2",
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"reference": "Observation/Observation-GenomicsVariant-SLC52A2",
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"display": "Brown-Vialetto-Van Laere syndrome type 2"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicTherapeuticImplication-Example"
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"reference": "Observation/Observation-GenomicTherapeuticImplication-Example"
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}
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],
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"conclusion": "Pheobe is homozygous for a pathogenic SLC52A2 missense variant (details below) previously reported by Johnson et al 2012 (PMID22740598). Biallelic pathogenic SLC52A2 variants cause autosomal recessive Brown-Vialetto-Van Laere syndrome type 2 (MIM614707).",
@@ -423,7 +423,7 @@
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]
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},
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example"
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"effectiveDateTime": "2023-09-16",
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"performer": [
@@ -436,7 +436,7 @@
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],
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"derivedFrom": [
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicsVariantSLC52A2-Example"
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"reference": "Observation/Observation-GenomicsVariantSLC52A2-Example"
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}
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],
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"component": [
@@ -499,7 +499,7 @@
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"status": "final",
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"basedOn": [
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{
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"reference": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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}
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],
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"category": [
@@ -529,7 +529,7 @@
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]
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},
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example"
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"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"effectiveDateTime": "2023-09-16",
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"performer": [
@@ -559,7 +559,7 @@
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]
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},
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"specimen": {
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"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmitham-Example"
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"reference": "Specimen/Specimen-PheobeSmitham-Example"
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},
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"component": [
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{
@@ -732,7 +732,7 @@
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]
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},
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example",
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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"
@@ -750,7 +750,7 @@
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},
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"request": [
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{
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"reference": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example"
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"reference": "ServiceRequest/ServiceRequest-WGSTestOrderForm-TrioTestingProband-Example"
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}
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]
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}
@@ -827,19 +827,19 @@
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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": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example",
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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": "2023-09-15T15:00:00Z",
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"requester": {
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"reference": "http://example.org/fhir/PractitionerRole/PractitionerRole-EugeneSmith-Example"
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"reference": "PractitionerRole/PractitionerRole-EugeneSmith-Example"
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},
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"reasonReference": [
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{
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"reference": "http://example.org/fhir/Condition/Condition-InbornErrorOfMetabolism-Example"
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"reference": "Condition/Condition-InbornErrorOfMetabolism-Example"
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}
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],
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"performer": [
@@ -852,100 +852,100 @@
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],
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"supportingInfo": [
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{
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"reference": "http://example.org/fhir/Observation/Observation-AutisticBehaviour-Example"
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"reference": "Observation/Observation-AutisticBehaviour-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-DelayedSpeechLanguageDevt-Example"
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"reference": "Observation/Observation-DelayedSpeechLanguageDevt-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
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"reference": "Observation/Observation-DiseasePenetrancePheobeSmitham-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-IntellectualDisabilityProfound-Example"
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"reference": "Observation/Observation-IntellectualDisabilityProfound-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnionProband-Example"
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"reference": "Observation/Observation-NonConsanguinousUnionProband-Example"
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},
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{
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"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmitham-Example"
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"reference": "Specimen/Specimen-PheobeSmitham-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example"
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"reference": "Observation/Observation-GenomicEthnicity-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoPregnancy-Example"
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"reference": "Observation/Observation-NoPregnancy-Example"
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},
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{
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"reference": "http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example"
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"reference": "Condition/Condition-MonogenicHearingLoss-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example"
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"reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoTransfusion-Example"
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"reference": "Observation/Observation-NoTransfusion-Example"
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},
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{
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmithamMother-Example"
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"reference": "Patient/Patient-PheobeSmithamMother-Example"
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},
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{
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"reference": "http://example.org/fhir/RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example"
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"reference": "RelatedPerson/RelatedPerson-AliceSmithamProbandMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmithamMother-Example"
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"reference": "Specimen/Specimen-PheobeSmithamMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnionMother-Example"
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"reference": "Observation/Observation-NonConsanguinousUnionMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoTransfusionProbandMother-Example"
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"reference": "Observation/Observation-NoTransfusionProbandMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplantProbandMother-Example"
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"reference": "Observation/Observation-NoBoneMarrowTransplantProbandMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmithamFather-Example"
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"reference": "Patient/Patient-PheobeSmithamFather-Example"
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},
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{
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"reference": "http://example.org/fhir/RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example"
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"reference": "RelatedPerson/RelatedPerson-JamesLawrenceProbandFather-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NonConsanguinousUnionProbandFather-Example"
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"reference": "Observation/Observation-NonConsanguinousUnionProbandFather-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoTransfusionProbandFather-Example"
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"reference": "Observation/Observation-NoTransfusionProbandFather-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplantProbandFather-Example"
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"reference": "Observation/Observation-NoBoneMarrowTransplantProbandFather-Example"
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},
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{
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"reference": "http://example.org/fhir/Observation/Observation-IntellectualDisabilityMild-Example"
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"reference": "Observation/Observation-IntellectualDisabilityMild-Example"
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},
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{
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"reference": "http://example.org/fhir/Consent/Consent-RoD-PheobeSmitham-Example"
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"reference": "Consent/Consent-RoD-PheobeSmitham-Example"
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},
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{
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"reference": "http://example.org/fhir/Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
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"reference": "Consent/Consent-RoD-PheobeSmithamYoungPersonAssentForm-Example"
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},
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{
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"reference": "http://example.org/fhir/Consent/Consent-RoD-PheobeSmithamMother-Example"
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"reference": "Consent/Consent-RoD-PheobeSmithamMother-Example"
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},
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{
933-
"reference": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
933+
"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamCDForn-Example"
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},
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{
936-
"reference": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamYPAForm-Example"
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},
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{
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"reference": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example"
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamMother-Example"
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},
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{
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"reference": "http://example.org/fhir/Consent/Consent-RoD-PheobeSmithamFather-Example"
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"reference": "Consent/Consent-RoD-PheobeSmithamFather-Example"
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},
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{
945-
"reference": "http://example.org/fhir/QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example"
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"reference": "QuestionnaireResponse/QuestionnaireResponse-RoD-PheobeSmithamFather-Example"
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},
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{
948-
"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmithamFather-Example"
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"reference": "Specimen/Specimen-PheobeSmithamFather-Example"
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}
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],
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"note": [
@@ -981,10 +981,10 @@
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},
982982
"description": "Testing of Pheobe's parents is recommended (via referral to the clinical genetics service) in order to confirm that both are heterozygous carriers of the missense variant.",
983983
"for": {
984-
"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example"
984+
"reference": "Patient/Patient-PheobeSmitham-Example"
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},
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"reasonReference": {
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"reference": "http://example.org/fhir/Observation/Observation-GenomicImplication-Therapeutic"
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"reference": "Observation/Observation-GenomicImplication-Therapeutic"
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},
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"input": [
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{
@@ -998,7 +998,7 @@
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]
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},
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"valueReference": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmithamFather-Example"
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"reference": "Patient/Patient-PheobeSmithamFather-Example"
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}
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},
10041004
{
@@ -1012,7 +1012,7 @@
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]
10131013
},
10141014
"valueReference": {
1015-
"reference": "http://example.org/fhir/Patient/Patient-PheobeSmithamMother-Example"
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"reference": "Patient/Patient-PheobeSmithamMother-Example"
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}
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}
10181018
]
@@ -1026,7 +1026,7 @@
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"status": "current",
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"docStatus": "final",
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"subject": {
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"reference": "http://example.org/fhir/Patient/Patient-PheobeSmitham-Example",
1029+
"reference": "Patient/Patient-PheobeSmitham-Example",
10301030
"identifier": {
10311031
"system": "https://fhir.nhs.uk/Id/nhs-number",
10321032
"value": "9449307539"
@@ -1054,16 +1054,16 @@
10541054
"context": {
10551055
"related": [
10561056
{
1057-
"reference": "http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
1057+
"reference": "ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example"
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},
10591059
{
1060-
"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmitham-Example"
1060+
"reference": "Specimen/Specimen-PheobeSmitham-Example"
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},
10621062
{
1063-
"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmithamFather-Example"
1063+
"reference": "Specimen/Specimen-PheobeSmithamFather-Example"
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},
10651065
{
1066-
"reference": "http://example.org/fhir/Specimen/Specimen-PheobeSmithamMother-Example"
1066+
"reference": "Specimen/Specimen-PheobeSmithamMother-Example"
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}
10681068
]
10691069
}

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