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KazeemHamzatKazeemHamzat
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Merge branch 'main' of https://github.com/NHSDigital/NHSDigital-FHIR-Genomics-ImplementationGuide into Patch-IOPS-4434-Delete-CodeSystem-test-type-genomics
2 parents 95628a3 + 53fd5e0 commit a0f367a

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‎.simplifier/folder.settings.json‎

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ActivityDefinition/DGTS-ActivityDefinition-Example.json renamed to ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json

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{
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"resourceType": "ActivityDefinition",
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"id": "DGTS-ActivityDefinition-Example",
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"id": "ActivityDefinition-DGTS-GT1-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT1",
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"identifier": [
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{
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"version": "1.0",
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"status": "active",
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"experimental": false,
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"useContext": [
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{
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"code": {
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"code": "focus"
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},
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"valueCodeableConcept": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-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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],
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"code": {
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"coding": [
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{
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"code": "targeted-variant-analysis",
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"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs"
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"display": "GMS Rare Disease"
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}
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]
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}
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT103-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT103",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT103"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R375.1",
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"use": "old"
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}
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],
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"title": "Family follow-up testing to aid variant interpretation - Targeted variant testing",
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"name": "GT103_Family follow-up testing to aid variant interpretation",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT1124-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT1124",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT1124"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R448.1",
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"use": "old"
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}
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],
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"title": "Prenatal Diagnosis for known variant(s) - Targeted variant testing",
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"name": "GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-192-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT192",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT192"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R387.1",
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"use": "old"
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}
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],
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"title": "Reanalysis of existing data",
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"name": "GT192_Reanalysis-of-existing-data",
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"version": "1.0",
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"status": "active",
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"experimental": false,
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "sequencing"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT36-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT36",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT36"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R242.1",
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"use": "old"
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}
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],
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"status": "active",
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"title": "Predictive testing for known variant(s) - Targeted variant testing",
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"name": "GT36_Targeted-variant-testing",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT417-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT417",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT417"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R263.1",
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"use": "old"
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}
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],
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"title": "Confirmation of uniparental disomy",
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"name": "GT417_Confirmation of uniparental disomy",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT46-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT46",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT46"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R69.5",
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"use": "old"
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}
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],
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"status": "active",
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"title": "Hypotonic infant - WGS",
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"name": "GT46_Hypotonic-infant-WGS",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "whole-genome-sequencing"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/GT46"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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],
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"relatedArtifact": [
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{
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"type": "composed-of",
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"url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1",
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"display": "Hypotonic infant"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT732-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT732",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT732"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R244.1",
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"use": "old"
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}
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],
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"title": "Carrier testing for known variant(s) - Targeted variant testing",
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"name": "GT732_Carrier testing for known variant(s) - Targeted variant testing",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

‎ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json‎

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{
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"resourceType": "ActivityDefinition",
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"id": "ActivityDefinition-DGTS-GT858-Example",
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"url": "https://fhir.nhs.uk/ActivityDefinition/GT858",
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"status": "active",
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"identifier": [
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{
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"system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices",
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"value": "GT858"
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},
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{
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"system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory",
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"value": "R443.1",
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"use": "old"
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}
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],
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"title": "Confirmation test",
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"name": "GT858_Confirmation test",
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"code": {
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"coding": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type",
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"code": "targeted-assay"
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}
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]
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},
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"library": [
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"https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required"
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],
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"specimenRequirement": [
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{
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"reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example"
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}
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]
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}

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