From 5b288a092d468346968ab7b23babfd15af8f99cb Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Wed, 24 Jun 2026 19:40:46 +0100 Subject: [PATCH 1/5] DGTS Bundle DGTS Bundle --- ...ition-DGTS-HypotonicinfantWGS-Example.json | 56 ++++ ...TS-Reanalysising-existingdata-Example.json | 53 ++++ ...finition-DGTS-Targetedvariant-Example.json | 47 ++++ ...DGTS-family-follow-up-testing-Example.json | 49 ++++ ...le-DGTS-GenomicTest-Catalogue-Example.json | 245 ++++++++++++++++++ Library/DGTS-Library-Example.json | 4 +- Library/Library-DGTS-GT46-Example.json | 41 +++ ...disease-variant-gene-required-Example.json | 41 +++ ...ibrary-parameters-notrequired-Example.json | 41 +++ .../DGTS-PlanDefinition-Example.json | 6 +- ...finition-DGTS-HypotonicInfant-Example.json | 186 +++++++++++++ 11 files changed, 764 insertions(+), 5 deletions(-) create mode 100644 ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json create mode 100644 Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json create mode 100644 Library/Library-DGTS-GT46-Example.json create mode 100644 Library/Library-DGTS-targetdisease-variant-gene-required-Example.json create mode 100644 Library/Library-parameters-notrequired-Example.json create mode 100644 PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json diff --git a/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json b/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json new file mode 100644 index 00000000..54edc86a --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json @@ -0,0 +1,56 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-HypotonicinfantWGS-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT46" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R69.5", + "use": "old" + } + ], + "status": "active", + "title": "Hypotonic infant - WGS", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "whole-genome-sequencing" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/GT46" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ], + "relatedArtifact": [ + { + "type": "composed-of", + "url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1", + "display": "Hypotonic infant" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json b/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json new file mode 100644 index 00000000..79023150 --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json @@ -0,0 +1,53 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT192" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R387.1", + "use": "old" + } + ], + "title": "Reanalysis of existing data", + "name": "GT192_ActivityDefinition", + "version": "1.0", + "status": "active", + "experimental": false, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "sequencing" + } + ] + }, + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json b/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json new file mode 100644 index 00000000..4c0c4a5a --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json @@ -0,0 +1,47 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-Targetedvariant-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT36" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R242.1", + "use": "old" + } + ], + "status": "active", + "title": "Predictive testing for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { "code": "focus" }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "predictive" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json b/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json new file mode 100644 index 00000000..573e038b --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json @@ -0,0 +1,49 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-family-follow-up-testing-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT103" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R375.1", + "use": "old" + } + ], + "title": "Family follow-up testing to aid variant interpretation - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "family-member-to-aid-interpretation" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json new file mode 100644 index 00000000..ec769f20 --- /dev/null +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -0,0 +1,245 @@ +{ + "resourceType": "Bundle", + "type": "collection", + "entry": [ + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/DGTS-ActivityDefinition-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "DGTS-ActivityDefinition-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT1", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT1" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R47.2", + "use": "old" + } + ], + "title": "15q11 critical region (AS/PWS) - MLPA or equivalent", + "name": "GT1_ActivityDefinition", + "version": "1.0", + "status": "active", + "experimental": false, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "code": { + "coding": [ + { + "code": "targeted-variant-analysis", + "system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs" + } + ] + }, + "library": [ + "https://fhir.nhs.uk/Library/GT1" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ], + "relatedArtifact": [ + { + "type": "composed-of", + "url": "https://panelapp.genomicsengland.co.uk/panels/1313", + "label": "Carney complex", + "display": "GMS Rare Disease" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-family-follow-up-testing-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT103" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R375.1", + "use": "old" + } + ], + "title": "Family follow-up testing to aid variant interpretation - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "family-member-to-aid-interpretation" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT192" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R387.1", + "use": "old" + } + ], + "title": "Reanalysis of existing data", + "name": "GT192_ActivityDefinition", + "version": "1.0", + "status": "active", + "experimental": false, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "sequencing" + } + ] + }, + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-HypotonicinfantWGS-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT46" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R69.5", + "use": "old" + } + ], + "status": "active", + "title": "Hypotonic infant - WGS", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "whole-genome-sequencing" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/GT46" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ], + "relatedArtifact": [ + { + "type": "composed-of", + "url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1", + "display": "Hypotonic infant" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/GT36", + "resource": { + "resourceType": "ActivityDefinition", + "id": "GT36", + "status": "active" + } + } + ] +} \ No newline at end of file diff --git a/Library/DGTS-Library-Example.json b/Library/DGTS-Library-Example.json index 1d31be20..0e2a148d 100644 --- a/Library/DGTS-Library-Example.json +++ b/Library/DGTS-Library-Example.json @@ -2,7 +2,7 @@ "resourceType": "Library", "id": "DGTS-Library-Example", "url": "https://fhir.nhs.uk/Library/GT1", - "name": "GT1_Library" + "name": "GT1_Library", "type": { "coding": [ { @@ -38,4 +38,4 @@ "type": "Coding" } ] -} +} \ No newline at end of file diff --git a/Library/Library-DGTS-GT46-Example.json b/Library/Library-DGTS-GT46-Example.json new file mode 100644 index 00000000..0b68e952 --- /dev/null +++ b/Library/Library-DGTS-GT46-Example.json @@ -0,0 +1,41 @@ +{ + "resourceType": "Library", + "id": "DGTS-GT46-Example", + "url": "https://fhir.nhs.uk/Library/GT46", + "name": "DDGTS-GT46-Example", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "1", + "type": "Coding" + }, + { + "name": "target_disease", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_gene", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_variant", + "use": "in", + "min": 0, + "type": "Coding" + } + ] +} \ No newline at end of file diff --git a/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json b/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json new file mode 100644 index 00000000..ab884a63 --- /dev/null +++ b/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json @@ -0,0 +1,41 @@ +{ + "resourceType": "Library", + "id": "DGTS-targetdisease-variant-gene-required-Example", + "url": "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required", + "name": "DGTS-TargetDiseaseGeneVariantRequired-Example", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "0", + "type": "Coding" + }, + { + "name": "target_disease", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_gene", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_variant", + "use": "in", + "min": 1, + "type": "Coding" + } + ] +} \ No newline at end of file diff --git a/Library/Library-parameters-notrequired-Example.json b/Library/Library-parameters-notrequired-Example.json new file mode 100644 index 00000000..2f943bcf --- /dev/null +++ b/Library/Library-parameters-notrequired-Example.json @@ -0,0 +1,41 @@ +{ + "resourceType": "Library", + "id": "DGTS-parametersnotrequired-Example", + "url": "https://fhir.nhs.uk/Library/parameters-not-required", + "name": "DGTS-ParameterNotRequired-EXAMPLE", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "0", + "type": "Coding" + }, + { + "name": "target_disease_required", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_gene_required", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_variant_required", + "use": "in", + "min": 0, + "type": "Coding" + } + ] +} diff --git a/PlanDefinition/DGTS-PlanDefinition-Example.json b/PlanDefinition/DGTS-PlanDefinition-Example.json index d0ba2209..667d43f7 100644 --- a/PlanDefinition/DGTS-PlanDefinition-Example.json +++ b/PlanDefinition/DGTS-PlanDefinition-Example.json @@ -150,9 +150,9 @@ "description": { "coding": [ { - "code": "rare-disease-non-wgs", - "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory", - "display": "Rare Disease - Non-WGS" + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-testpackage-modality", + "code": "rare-and-inherited-disease", + "display": "Rare and Inherited Disease" } ] } diff --git a/PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json b/PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json new file mode 100644 index 00000000..bb7742fc --- /dev/null +++ b/PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json @@ -0,0 +1,186 @@ +{ + "resourceType": "PlanDefinition", + "id": "PlanDefinition-DGTS-HypotonicInfant-Example", + "url": "https://fhir.nhs.uk/PlanDefinition/TP383", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "TP383" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R69", + "use": "old" + } + ], + "version": "1.0", + "name": "TP383_PlanDefinition", + "title": "Hypotonic infant", + "status": "active", + "experimental": false, + "description": "Floopy Baby", + "extension": [ + { + "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-PlanDefinition.actor", + "extension": [ + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "performer", + "display": "Performer" + } + ] + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/Organization-CSGLHub-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "699P0" + }, + "display": "Central and South Genomic Laboratory Hub" + } + } + ] + }, + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "requester", + "display": "Requester" + } + ] + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/ImperialCollegeHealthcareNHSTrust-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RYJ" + }, + "display": "Imperial College Healthcare NHS Trust" + } + } + ] + } + ] + } + ], + "useContext": [ + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "420", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Paediatrics" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "400", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Neurology" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "311", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Clinical Genetics" + } + ] + } + }, + { + "code": { + "code": "focus", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "goal": [ + { + "description": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-testpackage-modality", + "code": "rare-and-inherited-disease", + "display": "Rare and Inherited Disease" + } + ] + } + } + ], + "action": [ + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT36" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT103" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT192" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT417" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT732" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT858" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT897" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT1124" + } + ] +} \ No newline at end of file From cdaf6381ba3850d75ab6b89db8f7db73cfa234fd Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Thu, 25 Jun 2026 14:11:59 +0100 Subject: [PATCH 2/5] Added additional ActivDefnitions Added additional ActivDefnitions --- ...finition-DGTS-Targetedvariant-Example.json | 47 -- ... ActivityDefinition-DGTS_GT1-Example.json} | 2 +- ...ctivityDefinition-DGTS_GT103-Example.json} | 3 +- ...ctivityDefinition-DGTS_GT1124-Example.json | 50 ++ ...ctivityDefinition-DGTS_GT192-Example.json} | 4 +- .../ActivityDefinition-DGTS_GT36-Example.json | 50 ++ ...ActivityDefinition-DGTS_GT417-Example.json | 50 ++ ...ActivityDefinition-DGTS_GT46-Example.json} | 3 +- ...ActivityDefinition-DGTS_GT732-Example.json | 50 ++ ...ActivityDefinition-DGTS_GT858-Example.json | 50 ++ ...ActivityDefinition-DGTS_GT897-Example.json | 50 ++ ...le-DGTS-GenomicTest-Catalogue-Example.json | 734 +++++++++++++++++- ...=> PlanDefinition-DGTS_TP231-Example.json} | 2 +- ...=> PlanDefinition-DGTS_TP383-Example.json} | 2 +- 14 files changed, 1021 insertions(+), 76 deletions(-) delete mode 100644 ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json rename ActivityDefinition/{DGTS-ActivityDefinition-Example.json => ActivityDefinition-DGTS_GT1-Example.json} (96%) rename ActivityDefinition/{ActivityDefinition-DGTS-family-follow-up-testing-Example.json => ActivityDefinition-DGTS_GT103-Example.json} (89%) create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json rename ActivityDefinition/{ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json => ActivityDefinition-DGTS_GT192-Example.json} (90%) create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json rename ActivityDefinition/{ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json => ActivityDefinition-DGTS_GT46-Example.json} (92%) create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json create mode 100644 ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json rename PlanDefinition/{DGTS-PlanDefinition-Example.json => PlanDefinition-DGTS_TP231-Example.json} (98%) rename PlanDefinition/{PlanDefinition-DGTS-HypotonicInfant-Example.json => PlanDefinition-DGTS_TP383-Example.json} (98%) diff --git a/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json b/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json deleted file mode 100644 index 4c0c4a5a..00000000 --- a/ActivityDefinition/ActivityDefinition-DGTS-Targetedvariant-Example.json +++ /dev/null @@ -1,47 +0,0 @@ -{ - "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-Targetedvariant-Example", - "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", - "identifier": [ - { - "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", - "value": "GT36" - }, - { - "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", - "value": "R242.1", - "use": "old" - } - ], - "status": "active", - "title": "Predictive testing for known variant(s) - Targeted variant testing", - "code": { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", - "code": "targeted-assays" - } - ] - }, - "useContext": [ - { - "code": { "code": "focus" }, - "valueCodeableConcept": { - "coding": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", - "code": "predictive" - } - ] - } - } - ], - "library": [ - "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" - ], - "specimenRequirement": [ - { - "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" - } - ] -} \ No newline at end of file diff --git a/ActivityDefinition/DGTS-ActivityDefinition-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json similarity index 96% rename from ActivityDefinition/DGTS-ActivityDefinition-Example.json rename to ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json index 3b718c9c..fbea6299 100644 --- a/ActivityDefinition/DGTS-ActivityDefinition-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "DGTS-ActivityDefinition-Example", + "id": "ActivityDefinition-DGTS_GT1-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1", "identifier": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json similarity index 89% rename from ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json rename to ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json index 573e038b..325292ae 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-family-follow-up-testing-Example", + "id": "ActivityDefinition-DGTS_GT103-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", "status": "active", "identifier": [ @@ -15,6 +15,7 @@ } ], "title": "Family follow-up testing to aid variant interpretation - Targeted variant testing", + "name": "GT103_Family follow-up testing to aid variant interpretation", "code": { "coding": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json new file mode 100644 index 00000000..550039bf --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT1124-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT1124", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT1124" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R448.1", + "use": "old" + } + ], + "title": "Prenatal Diagnosis for known variant(s) - Targeted variant testing", + "name": "GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "prenatal-diagnosis" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json similarity index 90% rename from ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json rename to ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json index 79023150..bc3964e6 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "id": "ActivityDefinition-DGTS_192-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", "identifier": [ { @@ -14,7 +14,7 @@ } ], "title": "Reanalysis of existing data", - "name": "GT192_ActivityDefinition", + "name": "GT192_Reanalysis-of-existing-data", "version": "1.0", "status": "active", "experimental": false, diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json new file mode 100644 index 00000000..6884758b --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT36-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT36" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R242.1", + "use": "old" + } + ], + "status": "active", + "title": "Predictive testing for known variant(s) - Targeted variant testing", + "name": "GT36_Targeted-variant-testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "predictive" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json new file mode 100644 index 00000000..091532fb --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT417-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT417", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT417" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R263.1", + "use": "old" + } + ], + "title": "Confirmation of uniparental disomy", + "name": "GT417_Confirmation of uniparental disomy", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json similarity index 92% rename from ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json rename to ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json index 54edc86a..c60977ce 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-HypotonicinfantWGS-Example", + "id": "ActivityDefinition-DGTS_GT46-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", "identifier": [ { @@ -15,6 +15,7 @@ ], "status": "active", "title": "Hypotonic infant - WGS", + "name": "GT46_Hypotonic-infant-WGS", "code": { "coding": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json new file mode 100644 index 00000000..fe983ca4 --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT732-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT732", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT732" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R244.1", + "use": "old" + } + ], + "title": "Carrier testing for known variant(s) - Targeted variant testing", + "name": "GT732_Carrier testing for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "carrier" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json new file mode 100644 index 00000000..aa5aee3c --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT858-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT858", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT858" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R443.1", + "use": "old" + } + ], + "title": "Confirmation test", + "name": "GT858_Confirmation test", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json new file mode 100644 index 00000000..f5791073 --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT897-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT897", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT897" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R240.1", + "use": "old" + } + ], + "title": "Diagnostic testing for known variant(s) - Targeted variant testing", + "name": "GT897_Diagnostic testing for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] +} \ No newline at end of file diff --git a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json index ec769f20..2c5bd5dc 100644 --- a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -3,10 +3,389 @@ "type": "collection", "entry": [ { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/DGTS-ActivityDefinition-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS_TP383-Example", + "resource": { + "resourceType": "PlanDefinition", + "id": "PlanDefinition-DGTS_TP383-Example", + "url": "https://fhir.nhs.uk/PlanDefinition/TP383", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "TP383" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R69", + "use": "old" + } + ], + "version": "1.0", + "name": "TP383_PlanDefinition", + "title": "Hypotonic infant", + "status": "active", + "experimental": false, + "description": "Floopy Baby", + "extension": [ + { + "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-PlanDefinition.actor", + "extension": [ + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "performer", + "display": "Performer" + } + ] + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/Organization-CSGLHub-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "699P0" + }, + "display": "Central and South Genomic Laboratory Hub" + } + } + ] + }, + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "requester", + "display": "Requester" + } + ] + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/ImperialCollegeHealthcareNHSTrust-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RYJ" + }, + "display": "Imperial College Healthcare NHS Trust" + } + } + ] + } + ] + } + ], + "useContext": [ + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "420", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Paediatrics" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "400", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Neurology" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "311", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Clinical Genetics" + } + ] + } + }, + { + "code": { + "code": "focus", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "goal": [ + { + "description": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-testpackage-modality", + "code": "rare-and-inherited-disease", + "display": "Rare and Inherited Disease" + } + ] + } + } + ], + "action": [ + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT36" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT103" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT192" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT417" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT732" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT858" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT897" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT1124" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS_TP231-Example", + "resource": { + "resourceType": "PlanDefinition", + "id": "PlanDefinition-DGTS_TP231-Example", + "url": "https://fhir.nhs.uk/PlanDefinition/TP231", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "TP231" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R47", + "use": "old" + } + ], + "version": "1.0", + "name": "TP321_PlanDefinition", + "title": "Angelman syndrome", + "status": "active", + "experimental": false, + "extension": [ + { + "url": "http://hl7.org/fhir/5.0/StructureDefinition/extension-PlanDefinition.actor", + "extension": [ + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "performer", + "display": "Performer" + } + ], + "text": "Performer" + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/Organization-CSGLHub-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "699P0" + }, + "display": "Central and South Genomic Laboratory Hub" + } + } + ] + }, + { + "url": "option", + "extension": [ + { + "url": "role", + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/action-participant-role-genomics", + "code": "requester", + "display": "Requester" + } + ], + "text": "Requester" + } + }, + { + "url": "typeReference", + "valueReference": { + "reference": "Organization/ImperialCollegeHealthcareNHSTrust-Example", + "identifier": { + "system": "https://fhir.nhs.uk/Id/ods-organization-code", + "value": "RYJ" + }, + "display": "Imperial College Healthcare NHS Trust" + } + } + ] + } + ] + } + ], + "useContext": [ + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "400", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Neurology" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "420", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Paediatrics" + } + ] + } + }, + { + "code": { + "code": "user", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "code": "311", + "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode", + "display": "Clinical Genetics" + } + ] + } + }, + { + "code": { + "code": "focus", + "system": "http://terminology.hl7.org/CodeSystem/usage-context-type" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + } + ] + } + } + ], + "goal": [ + { + "description": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-testpackage-modality", + "code": "rare-and-inherited-disease", + "display": "Rare and Inherited Disease" + } + ] + } + } + ], + "action": [ + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT1" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT36" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT103" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT417" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT732" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT858" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT897" + }, + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT1124" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "DGTS-ActivityDefinition-Example", + "id": "ActivityDefinition-DGTS_GT1-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1", "identifier": [ { @@ -67,10 +446,122 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-family-follow-up-testing-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ctivityDefinition-DGTS_GT36-Example", + "resource": { + "id": "ActivityDefinition-DGTS_GT36-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT36" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R242.1", + "use": "old" + } + ], + "status": "active", + "title": "Predictive testing for known variant(s) - Targeted variant testing", + "name": "GT36_Targeted-variant-testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "predictive" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-family-follow-up-testing-Example", + "id": "ActivityDefinition-DGTS_GT46-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT46" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R69.5", + "use": "old" + } + ], + "status": "active", + "title": "Hypotonic infant - WGS", + "name": "GT46_Hypotonic-infant-WGS", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "whole-genome-sequencing" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/GT46" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ], + "relatedArtifact": [ + { + "type": "composed-of", + "url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1", + "display": "Hypotonic infant" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT103-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", "status": "active", "identifier": [ @@ -85,6 +576,7 @@ } ], "title": "Family follow-up testing to aid variant interpretation - Targeted variant testing", + "name": "GT103_Family follow-up testing to aid variant interpretation", "code": { "coding": [ { @@ -119,10 +611,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_192-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-Reanalysising-existingdata-Example", + "id": "ActivityDefinition-DGTS_192-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", "identifier": [ { @@ -136,7 +628,7 @@ } ], "title": "Reanalysis of existing data", - "name": "GT192_ActivityDefinition", + "name": "GT192_Reanalysis-of-existing-data", "version": "1.0", "status": "active", "experimental": false, @@ -175,29 +667,136 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-HypotonicinfantWGS-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS-HypotonicinfantWGS-Example", - "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", + "id": "ActivityDefinition-DGTS_GT417-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT417", + "status": "active", "identifier": [ { "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", - "value": "GT46" + "value": "GT417" }, { "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", - "value": "R69.5", + "value": "R263.1", "use": "old" } ], + "title": "Confirmation of uniparental disomy", + "name": "GT417_Confirmation of uniparental disomy", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT732-Exampl", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT732-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT732", "status": "active", - "title": "Hypotonic infant - WGS", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT732" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R244.1", + "use": "old" + } + ], + "title": "Carrier testing for known variant(s) - Targeted variant testing", + "name": "GT732_Carrier testing for known variant(s) - Targeted variant testing", "code": { "coding": [ { "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", - "code": "whole-genome-sequencing" + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "carrier" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT858-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT858", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT858" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R443.1", + "use": "old" + } + ], + "title": "Confirmation test", + "name": "GT858_Confirmation test", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" } ] }, @@ -217,28 +816,119 @@ } ], "library": [ - "https://fhir.nhs.uk/Library/GT46" + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" ], "specimenRequirement": [ { "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS_GT897-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT897", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT897" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R240.1", + "use": "old" + } ], - "relatedArtifact": [ + "title": "Diagnostic testing for known variant(s) - Targeted variant testing", + "name": "GT897_Diagnostic testing for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ { - "type": "composed-of", - "url": "https://nhsgms-panelapp.genomicsengland.co.uk/panels/490/v46.1", - "display": "Hypotonic infant" + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" } ] } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/GT36", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "GT36", - "status": "active" + "id": "ActivityDefinition-DGTS_GT1124-Example", + "url": "https://fhir.nhs.uk/ActivityDefinition/GT1124", + "status": "active", + "identifier": [ + { + "system": "https://fhir.nhs.uk/Id/England-DigitalGenomicTestServices", + "value": "GT1124" + }, + { + "system": "https://fhir.nhs.uk/Id/England-GenomicTestDirectory", + "value": "R448.1", + "use": "old" + } + ], + "title": "Prenatal Diagnosis for known variant(s) - Targeted variant testing", + "name": "GT1124_Prenatal Diagnosis for known variant(s) - Targeted variant testing", + "code": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/DGTS-genomictest-method-type", + "code": "targeted-assays" + } + ] + }, + "useContext": [ + { + "code": { + "code": "focus" + }, + "valueCodeableConcept": { + "coding": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "prenatal-diagnosis" + } + ] + } + } + ], + "library": [ + "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required" + ], + "specimenRequirement": [ + { + "reference": "SpecimenDefinition/DGTS-SpecimenDefinition-Example" + } + ] } } ] diff --git a/PlanDefinition/DGTS-PlanDefinition-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json similarity index 98% rename from PlanDefinition/DGTS-PlanDefinition-Example.json rename to PlanDefinition/PlanDefinition-DGTS_TP231-Example.json index 667d43f7..1445db94 100644 --- a/PlanDefinition/DGTS-PlanDefinition-Example.json +++ b/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json @@ -1,6 +1,6 @@ { "resourceType": "PlanDefinition", - "id": "DGTS-PlanDefinition-Example", + "id": "PlanDefinition-DGTS_TP231-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP231", "identifier": [ { diff --git a/PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json similarity index 98% rename from PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json rename to PlanDefinition/PlanDefinition-DGTS_TP383-Example.json index bb7742fc..ad03e7e6 100644 --- a/PlanDefinition/PlanDefinition-DGTS-HypotonicInfant-Example.json +++ b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json @@ -1,6 +1,6 @@ { "resourceType": "PlanDefinition", - "id": "PlanDefinition-DGTS-HypotonicInfant-Example", + "id": "PlanDefinition-DGTS_TP383-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP383", "identifier": [ { From f841af8f645c3a6b65d889ace7632bddca41f6d3 Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Thu, 25 Jun 2026 14:28:59 +0100 Subject: [PATCH 3/5] Feedback Issues Feedback Issues --- .../ActivityDefinition-DGTS_GT1-Example.json | 2 +- ...ActivityDefinition-DGTS_GT103-Example.json | 2 +- ...ctivityDefinition-DGTS_GT1124-Example.json | 2 +- ...ActivityDefinition-DGTS_GT192-Example.json | 2 +- .../ActivityDefinition-DGTS_GT36-Example.json | 2 +- ...ActivityDefinition-DGTS_GT417-Example.json | 2 +- .../ActivityDefinition-DGTS_GT46-Example.json | 2 +- ...ActivityDefinition-DGTS_GT732-Example.json | 2 +- ...ActivityDefinition-DGTS_GT858-Example.json | 2 +- ...ActivityDefinition-DGTS_GT897-Example.json | 2 +- ...le-DGTS-GenomicTest-Catalogue-Example.json | 48 +++++++++---------- .../PlanDefinition-DGTS_TP231-Example.json | 2 +- .../PlanDefinition-DGTS_TP383-Example.json | 2 +- 13 files changed, 36 insertions(+), 36 deletions(-) diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json index fbea6299..4652847c 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT1-Example", + "id": "ActivityDefinition-DGTS-GT1-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1", "identifier": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json index 325292ae..c76e14bb 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT103-Example", + "id": "ActivityDefinition-DGTS-GT103-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", "status": "active", "identifier": [ diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json index 550039bf..54716d3b 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT1124-Example", + "id": "ActivityDefinition-DGTS-GT1124-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1124", "status": "active", "identifier": [ diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json index bc3964e6..b8a39075 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_192-Example", + "id": "ActivityDefinition-DGTS-192-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", "identifier": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json index 6884758b..f235ecde 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT36-Example", + "id": "ActivityDefinition-DGTS-GT36-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", "identifier": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json index 091532fb..1e0bdf4d 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT417-Example", + "id": "ActivityDefinition-DGTS-GT417-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT417", "status": "active", "identifier": [ diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json index c60977ce..1ef46188 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT46-Example", + "id": "ActivityDefinition-DGTS-GT46-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", "identifier": [ { diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json index fe983ca4..77a0ae1c 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT732-Example", + "id": "ActivityDefinition-DGTS-GT732-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT732", "status": "active", "identifier": [ diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json index aa5aee3c..d03b2d03 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT858-Example", + "id": "ActivityDefinition-DGTS-GT858-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT858", "status": "active", "identifier": [ diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json index f5791073..a8a77ebd 100644 --- a/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example.json @@ -1,6 +1,6 @@ { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT897-Example", + "id": "ActivityDefinition-DGTS-GT897-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT897", "status": "active", "identifier": [ diff --git a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json index 2c5bd5dc..3166636b 100644 --- a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -3,10 +3,10 @@ "type": "collection", "entry": [ { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS_TP383-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS-TP383-Example", "resource": { "resourceType": "PlanDefinition", - "id": "PlanDefinition-DGTS_TP383-Example", + "id": "PlanDefinition-DGTS-TP383-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP383", "identifier": [ { @@ -192,10 +192,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS_TP231-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/PlanDefinition/PlanDefinition-DGTS-TP231-Example", "resource": { "resourceType": "PlanDefinition", - "id": "PlanDefinition-DGTS_TP231-Example", + "id": "PlanDefinition-DGTS-TP231-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP231", "identifier": [ { @@ -382,10 +382,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT1-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT1-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT1-Example", + "id": "ActivityDefinition-DGTS-GT1-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1", "identifier": [ { @@ -446,9 +446,9 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ctivityDefinition-DGTS_GT36-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ctivityDefinition-DGTS-GT36-Example", "resource": { - "id": "ActivityDefinition-DGTS_GT36-Example", + "id": "ActivityDefinition-DGTS-GT36-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", "identifier": [ { @@ -498,10 +498,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT46-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT46-Example", + "id": "ActivityDefinition-DGTS-GT46-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT46", "identifier": [ { @@ -558,10 +558,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT103-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT103-Example", + "id": "ActivityDefinition-DGTS-GT103-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT103", "status": "active", "identifier": [ @@ -611,10 +611,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_192-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-192-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_192-Example", + "id": "ActivityDefinition-DGTS-192-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT192", "identifier": [ { @@ -667,10 +667,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT417-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT417-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT417-Example", + "id": "ActivityDefinition-DGTS-GT417-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT417", "status": "active", "identifier": [ @@ -720,10 +720,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT732-Exampl", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT732-Exampl", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT732-Example", + "id": "ActivityDefinition-DGTS-GT732-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT732", "status": "active", "identifier": [ @@ -773,10 +773,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT858-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT858-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT858-Example", + "id": "ActivityDefinition-DGTS-GT858-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT858", "status": "active", "identifier": [ @@ -826,10 +826,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT897-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT897-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT897-Example", + "id": "ActivityDefinition-DGTS-GT897-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT897", "status": "active", "identifier": [ @@ -879,10 +879,10 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT1124-Example", "resource": { "resourceType": "ActivityDefinition", - "id": "ActivityDefinition-DGTS_GT1124-Example", + "id": "ActivityDefinition-DGTS-GT1124-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT1124", "status": "active", "identifier": [ diff --git a/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json index 1445db94..e1d94964 100644 --- a/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json +++ b/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json @@ -1,6 +1,6 @@ { "resourceType": "PlanDefinition", - "id": "PlanDefinition-DGTS_TP231-Example", + "id": "PlanDefinition-DGTS-TP231-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP231", "identifier": [ { diff --git a/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json index ad03e7e6..6ec33e7a 100644 --- a/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json +++ b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json @@ -1,6 +1,6 @@ { "resourceType": "PlanDefinition", - "id": "PlanDefinition-DGTS_TP383-Example", + "id": "PlanDefinition-DGTS-TP383-Example", "url": "https://fhir.nhs.uk/PlanDefinition/TP383", "identifier": [ { From 566dace4812152470253d10a6af6c9520fd75b25 Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Thu, 25 Jun 2026 15:22:27 +0100 Subject: [PATCH 4/5] Feedback Issues Feedback Issues --- ...le-DGTS-GenomicTest-Catalogue-Example.json | 137 +++++++++++++++++- ...ple.json => Library-DGTS-GT1-Example.json} | 2 +- Library/Library-DGTS-GT46-Example.json | 4 +- ...disease-variant-gene-required-Example.json | 2 +- ...ibrary-parameters-notrequired-Example.json | 41 ------ 5 files changed, 139 insertions(+), 47 deletions(-) rename Library/{DGTS-Library-Example.json => Library-DGTS-GT1-Example.json} (95%) delete mode 100644 Library/Library-parameters-notrequired-Example.json diff --git a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json index 3166636b..13cfadd2 100644 --- a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -446,8 +446,9 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ctivityDefinition-DGTS-GT36-Example", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT36-Example", "resource": { + "resourceType": "ActivityDefinition", "id": "ActivityDefinition-DGTS-GT36-Example", "url": "https://fhir.nhs.uk/ActivityDefinition/GT36", "identifier": [ @@ -720,7 +721,7 @@ } }, { - "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT732-Exampl", + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT732-Example", "resource": { "resourceType": "ActivityDefinition", "id": "ActivityDefinition-DGTS-GT732-Example", @@ -930,6 +931,138 @@ } ] } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/Library/LibraryDGTS-GT1-Example", + "resource": { + "resourceType": "Library", + "id": "LibraryDGTS-GT1-Example", + "url": "https://fhir.nhs.uk/Library/GT1", + "name": "GT1_Library", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "0", + "type": "Coding" + }, + { + "name": "target_disease_required", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_gene_required", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_variant_required", + "use": "in", + "min": 0, + "type": "Coding" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/Library/LibraryDGTS-GT46-Example", + "resource": { + "resourceType": "Library", + "id": "LibraryDGTS-GT46-Example", + "url": "https://fhir.nhs.uk/Library/GT46", + "name": "DDGTS-GT46-Example", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "1", + "type": "Coding" + }, + { + "name": "target_disease", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_gene", + "use": "in", + "min": 0, + "type": "Coding" + }, + { + "name": "target_variant", + "use": "in", + "min": 0, + "type": "Coding" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/Library/DGTS-targetdisease-gene-variant-required", + "resource": { + "resourceType": "Library", + "id": "DGTS-targetdisease-gene-variant-required-Example", + "url": "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required", + "name": "DGTS-TargetDiseaseGeneVariantRequired-Example", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "0", + "type": "Coding" + }, + { + "name": "target_disease", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_gene", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_variant", + "use": "in", + "min": 1, + "type": "Coding" + } + ] + } } ] } \ No newline at end of file diff --git a/Library/DGTS-Library-Example.json b/Library/Library-DGTS-GT1-Example.json similarity index 95% rename from Library/DGTS-Library-Example.json rename to Library/Library-DGTS-GT1-Example.json index 0e2a148d..0065a9ec 100644 --- a/Library/DGTS-Library-Example.json +++ b/Library/Library-DGTS-GT1-Example.json @@ -1,6 +1,6 @@ { "resourceType": "Library", - "id": "DGTS-Library-Example", + "id": "LibraryDGTS-GT1-Example", "url": "https://fhir.nhs.uk/Library/GT1", "name": "GT1_Library", "type": { diff --git a/Library/Library-DGTS-GT46-Example.json b/Library/Library-DGTS-GT46-Example.json index 0b68e952..29f07f5d 100644 --- a/Library/Library-DGTS-GT46-Example.json +++ b/Library/Library-DGTS-GT46-Example.json @@ -1,8 +1,8 @@ { "resourceType": "Library", - "id": "DGTS-GT46-Example", + "id": "Library-DGTS-GT46-Example", "url": "https://fhir.nhs.uk/Library/GT46", - "name": "DDGTS-GT46-Example", + "name": "DGTS-GT46-Example", "type": { "coding": [ { diff --git a/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json b/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json index ab884a63..4dcd7f3e 100644 --- a/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json +++ b/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json @@ -1,6 +1,6 @@ { "resourceType": "Library", - "id": "DGTS-targetdisease-variant-gene-required-Example", + "id": "DGTS-targetdisease-gene-variant-required-Example", "url": "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required", "name": "DGTS-TargetDiseaseGeneVariantRequired-Example", "type": { diff --git a/Library/Library-parameters-notrequired-Example.json b/Library/Library-parameters-notrequired-Example.json deleted file mode 100644 index 2f943bcf..00000000 --- a/Library/Library-parameters-notrequired-Example.json +++ /dev/null @@ -1,41 +0,0 @@ -{ - "resourceType": "Library", - "id": "DGTS-parametersnotrequired-Example", - "url": "https://fhir.nhs.uk/Library/parameters-not-required", - "name": "DGTS-ParameterNotRequired-EXAMPLE", - "type": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/library-type", - "code": "module-definition" - } - ] - }, - "status": "active", - "parameter": [ - { - "name": "additional_panels_available", - "use": "in", - "max": "0", - "type": "Coding" - }, - { - "name": "target_disease_required", - "use": "in", - "min": 0, - "type": "Coding" - }, - { - "name": "target_gene_required", - "use": "in", - "min": 0, - "type": "Coding" - }, - { - "name": "target_variant_required", - "use": "in", - "min": 0, - "type": "Coding" - } - ] -} From bb44df570e504b7acb9cb5f15fc21c87e8b4f4b2 Mon Sep 17 00:00:00 2001 From: Kazeem Hamzat Date: Thu, 25 Jun 2026 16:36:54 +0100 Subject: [PATCH 5/5] Update Package TP383 Added missing ActivDef --- ...le-DGTS-GenomicTest-Catalogue-Example.json | 81 ++++++++++--------- .../PlanDefinition-DGTS_TP383-Example.json | 3 + 2 files changed, 45 insertions(+), 39 deletions(-) diff --git a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json index 13cfadd2..fba4579c 100644 --- a/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -164,6 +164,9 @@ } ], "action": [ + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT46" + }, { "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT36" }, @@ -1023,45 +1026,45 @@ { "fullUrl": "https://example.org/fhir.nhs.uk/fhir/Library/DGTS-targetdisease-gene-variant-required", "resource": { - "resourceType": "Library", - "id": "DGTS-targetdisease-gene-variant-required-Example", - "url": "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required", - "name": "DGTS-TargetDiseaseGeneVariantRequired-Example", - "type": { - "coding": [ - { - "system": "http://terminology.hl7.org/CodeSystem/library-type", - "code": "module-definition" - } - ] - }, - "status": "active", - "parameter": [ - { - "name": "additional_panels_available", - "use": "in", - "max": "0", - "type": "Coding" - }, - { - "name": "target_disease", - "use": "in", - "min": 1, - "type": "Coding" - }, - { - "name": "target_gene", - "use": "in", - "min": 1, - "type": "Coding" - }, - { - "name": "target_variant", - "use": "in", - "min": 1, - "type": "Coding" - } - ] + "resourceType": "Library", + "id": "DGTS-targetdisease-gene-variant-required-Example", + "url": "https://fhir.nhs.uk/Library/DGTS-targetdisease-gene-variant-required", + "name": "DGTS-TargetDiseaseGeneVariantRequired-Example", + "type": { + "coding": [ + { + "system": "http://terminology.hl7.org/CodeSystem/library-type", + "code": "module-definition" + } + ] + }, + "status": "active", + "parameter": [ + { + "name": "additional_panels_available", + "use": "in", + "max": "0", + "type": "Coding" + }, + { + "name": "target_disease", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_gene", + "use": "in", + "min": 1, + "type": "Coding" + }, + { + "name": "target_variant", + "use": "in", + "min": 1, + "type": "Coding" + } + ] } } ] diff --git a/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json index 6ec33e7a..a30120a5 100644 --- a/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json +++ b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json @@ -158,6 +158,9 @@ } ], "action": [ + { + "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT46" + }, { "definitionCanonical": "https://fhir.nhs.uk/ActivityDefinition/GT36" },