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..4652847c 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_GT103-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json new file mode 100644 index 00000000..c76e14bb --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT103-Example.json @@ -0,0 +1,50 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-GT103-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", + "name": "GT103_Family follow-up testing to aid variant interpretation", + "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/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT1124-Example.json new file mode 100644 index 00000000..54716d3b --- /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_GT192-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json new file mode 100644 index 00000000..b8a39075 --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT192-Example.json @@ -0,0 +1,53 @@ +{ + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-192-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_Reanalysis-of-existing-data", + "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_GT36-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT36-Example.json new file mode 100644 index 00000000..f235ecde --- /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..1e0bdf4d --- /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_GT46-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json new file mode 100644 index 00000000..1ef46188 --- /dev/null +++ b/ActivityDefinition/ActivityDefinition-DGTS_GT46-Example.json @@ -0,0 +1,57 @@ +{ + "resourceType": "ActivityDefinition", + "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" + } + ] +} \ No newline at end of file diff --git a/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json b/ActivityDefinition/ActivityDefinition-DGTS_GT732-Example.json new file mode 100644 index 00000000..77a0ae1c --- /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..d03b2d03 --- /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..a8a77ebd --- /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 new file mode 100644 index 00000000..fba4579c --- /dev/null +++ b/Bundle/Bundle-DGTS-GenomicTest-Catalogue-Example.json @@ -0,0 +1,1071 @@ +{ + "resourceType": "Bundle", + "type": "collection", + "entry": [ + { + "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/GT46" + }, + { + "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": "ActivityDefinition-DGTS-GT1-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-GT36-Example", + "resource": { + "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" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT46-Example", + "resource": { + "resourceType": "ActivityDefinition", + "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": [ + { + "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", + "name": "GT103_Family follow-up testing to aid variant interpretation", + "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-192-Example", + "resource": { + "resourceType": "ActivityDefinition", + "id": "ActivityDefinition-DGTS-192-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_Reanalysis-of-existing-data", + "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-GT417-Example", + "resource": { + "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" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT732-Example", + "resource": { + "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" + } + ] + } + }, + { + "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" + } + ] + }, + "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-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" + } + ], + "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" + } + ] + } + }, + { + "fullUrl": "https://example.org/fhir.nhs.uk/fhir/ActivityDefinition/ActivityDefinition-DGTS-GT1124-Example", + "resource": { + "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" + } + ] + } + }, + { + "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 92% rename from Library/DGTS-Library-Example.json rename to Library/Library-DGTS-GT1-Example.json index 1d31be20..0065a9ec 100644 --- a/Library/DGTS-Library-Example.json +++ b/Library/Library-DGTS-GT1-Example.json @@ -1,8 +1,8 @@ { "resourceType": "Library", - "id": "DGTS-Library-Example", + "id": "LibraryDGTS-GT1-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..29f07f5d --- /dev/null +++ b/Library/Library-DGTS-GT46-Example.json @@ -0,0 +1,41 @@ +{ + "resourceType": "Library", + "id": "Library-DGTS-GT46-Example", + "url": "https://fhir.nhs.uk/Library/GT46", + "name": "DGTS-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..4dcd7f3e --- /dev/null +++ b/Library/Library-DGTS-targetdisease-variant-gene-required-Example.json @@ -0,0 +1,41 @@ +{ + "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/PlanDefinition/DGTS-PlanDefinition-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP231-Example.json similarity index 95% rename from PlanDefinition/DGTS-PlanDefinition-Example.json rename to PlanDefinition/PlanDefinition-DGTS_TP231-Example.json index d0ba2209..e1d94964 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": [ { @@ -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_TP383-Example.json b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json new file mode 100644 index 00000000..a30120a5 --- /dev/null +++ b/PlanDefinition/PlanDefinition-DGTS_TP383-Example.json @@ -0,0 +1,189 @@ +{ + "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": 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