diff --git a/CodeSystem/CodeSystem-Genomics-cancer-testing.json b/CodeSystem/CodeSystem-Genomics-cancer-testing.json new file mode 100644 index 0000000..8d2024b --- /dev/null +++ b/CodeSystem/CodeSystem-Genomics-cancer-testing.json @@ -0,0 +1,77 @@ +{ + "resourceType": "CodeSystem", + "id": "cancer-testing-genomics", + "url": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "version": "0.1.0", + "name": "CancerTestingGenomics", + "title": "Cancer Testing Genomics", + "status": "draft", + "date": "2026-02-06T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ + { + "system": "email", + "value": "interoperabilityteam@nhs.net" + } + ] + } + ], + "description": "CodeSystem used to identify Genomic test requested based on cancer suspicion/treatment.", + "copyright": "Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "caseSensitive": true, + "content": "complete", + "count": 12, + "concept": [ + { + "code": "sample-storage", + "display": "Sample storage" + }, + { + "code": "diagnostic", + "display": "Diagnostic" + }, + { + "code": "differential-diagnosis", + "display": "Differential diagnosis" + }, + { + "code": "prognostic", + "display": "Prognostic" + }, + { + "code": "treatment-determining", + "display": "Treatment determining" + }, + { + "code": "disease-monitoring", + "display": "Disease monitoring" + }, + { + "code": "relapse-recurrence", + "display": "Relapse or recurrence" + }, + { + "code": "remission", + "display": "Remission" + }, + { + "code": "transformation", + "display": "Transformation" + }, + { + "code": "research-trial-eligibility", + "display": "Research or trial eligibility" + }, + { + "code": "pharmacogenomics", + "display": "Pharmacogenomics" + }, + { + "code": "other", + "display": "Other" + } + ] +} \ No newline at end of file diff --git a/CodeSystem/CodeSystem-Genomics-clinical-utility.json b/CodeSystem/CodeSystem-Genomics-clinical-utility.json new file mode 100644 index 0000000..7900765 --- /dev/null +++ b/CodeSystem/CodeSystem-Genomics-clinical-utility.json @@ -0,0 +1,41 @@ +{ + "resourceType": "CodeSystem", + "id": "clinical-utility-genomics", + "url": "https://fhir.nhs.uk/CodeSystem/clinical-utility-genomics", + "version": "0.1.0", + "name": "ClinicalUtilityGenomics", + "title": "Clinical Utility Genomics", + "status": "draft", + "date": "2026-02-06T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ + { + "system": "email", + "value": "interoperabilityteam@nhs.net" + } + ] + } + ], + "description": "CodeSystem used for classifying clinical benefit of requesting genomic test for a patient", + "copyright": "Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "caseSensitive": true, + "content": "complete", + "count": 3, + "concept": [ + { + "code": "patient-management", + "display": "Patient management" + }, + { + "code": "reproductive-decision-making", + "display": "Reproductive decision making" + }, + { + "code": "unaffected-relatives-seeking-predictive-testing", + "display": "Unaffected relatives seeking predictive testing" + } + ] +} \ No newline at end of file diff --git a/CodeSystem/CodeSystem-Genomics-rare-diseaseTesting.json b/CodeSystem/CodeSystem-Genomics-rare-diseaseTesting.json new file mode 100644 index 0000000..8bbc7b1 --- /dev/null +++ b/CodeSystem/CodeSystem-Genomics-rare-diseaseTesting.json @@ -0,0 +1,65 @@ +{ + "resourceType": "CodeSystem", + "id": "rare-diseaseTesting-genomics", + "url": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "version": "0.1.0", + "name": "RareDiseaseTestingGenomics", + "title": "Rare Disease Testing Genomics", + "status": "draft", + "date": "2026-02-10T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ + { + "system": "email", + "value": "interoperabilityteam@nhs.net" + } + ] + } + ], + "description": "CodeSystem used to identify Genomic test requested based on rare disease suspicion/treatment.", + "copyright": "Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "caseSensitive": true, + "content": "complete", + "count": 9, + "concept": [ + { + "code": "sample-storage", + "display": "Sample storage" + }, + { + "code": "diagnostic", + "display": "Diagnostic" + }, + { + "code": "carrier", + "display": "Carrier" + }, + { + "code": "predictive", + "display": "Predictive" + }, + { + "code": "prenatal-diagnosis", + "display": "Prenatal diagnosis" + }, + { + "code": "family-member-to-aid-interpretation", + "display": "Family member to aid interpretation of a relative's result/variant" + }, + { + "code": "reanalysis", + "display": "Reanalysis" + }, + { + "code": "pharmacogenomics", + "display": "Pharmacogenomics" + }, + { + "code": "other", + "display": "Other" + } + ] +} \ No newline at end of file diff --git a/CodeSystem/CodeSystem-Genomics-reason-for-testing.json b/CodeSystem/CodeSystem-Genomics-reason-for-testing.json index ef32cf1..562ee2d 100644 --- a/CodeSystem/CodeSystem-Genomics-reason-for-testing.json +++ b/CodeSystem/CodeSystem-Genomics-reason-for-testing.json @@ -1,100 +1,100 @@ { - "resourceType": "CodeSystem", - "id": "reasonfortesting-genomics", - "url": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", - "version": "0.2.0", - "name": "ReasonforTestingGenomics", - "title": "Reason for Testing Genomics", - "status": "draft", - "date": "2025-09-09T00:00:00.000Z", - "publisher": "NHS England", - "contact": [ + "resourceType": "CodeSystem", + "id": "reasonfortesting-genomics", + "url": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", + "version": "0.2.0", + "name": "ReasonforTestingGenomics", + "title": "Reason for Testing Genomics", + "status": "retired", + "date": "2026-02-10T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ { - "name": "NHS England", - "telecom": [ - { - "system": "email", - "value": "interoperabilityteam@nhs.net" - } - ] + "system": "email", + "value": "interoperabilityteam@nhs.net" } - ], - "description": "A set of codes use to identify the reason for requesting a genomics test.This is intended to be used on ServiceRequest.category.", - "copyright": "Copyright © 2023+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", - "caseSensitive": true, - "content": "complete", - "concept": [ + ] + } + ], + "description": "A set of codes use to identify the reason for requesting a genomics test.This is intended to be used on ServiceRequest.category.", + "copyright": "Copyright © 2023+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "caseSensitive": true, + "content": "complete", + "concept": [ + { + "code": "primary-test-request", + "display": "Primary Test Request", + "concept": [ { - "code": "primary-test-request", - "display": "Primary Test Request", - "concept": [ - { - "code": "carrier", - "display": "Carrier" - }, - { - "code": "diagnostic", - "display": "Diagnostic" - }, - { - "code": "disease-monitoring-mrdmechanism", - "display": "Disease Monitoring MRD CHIMERISM" - }, - { - "code": "dna-storage", - "display": "DNA Storage" - }, - { - "code": "follow-up", - "display": "Follow Up" - }, - { - "code": "predictive", - "display": "Predictive" - }, - { - "code": "relapse", - "display": "Relapse" - }, - { - "code": "staging-or-prognosis", - "display": "Staging or Prognosis" - }, - { - "code": "unknown", - "display": "Unknown" - } - ] + "code": "carrier", + "display": "Carrier" }, { - "code": "reanalysis-test-request", - "display": "Reanalysis Test Request", - "concept": [ - { - "code": "change-in-presentation", - "display": "Change In Presentation" - }, - { - "code": "newly-affected-family-member", - "display": "Newly Affected Family Member" - }, - { - "code": "new-pregnancy", - "display": "New Pregnancy" - }, - { - "code": "new-treatment-clinical-management", - "display": "New Treatment/Clinical Management" - }, - { - "code": "recently-deceased-to-inform-family", - "display": "Recently Deceased To Inform Family" - } - ] + "code": "diagnostic", + "display": "Diagnostic" }, { - "code": "other", - "display": "Other" + "code": "disease-monitoring-mrdmechanism", + "display": "Disease Monitoring MRD CHIMERISM" + }, + { + "code": "dna-storage", + "display": "DNA Storage" + }, + { + "code": "follow-up", + "display": "Follow Up" + }, + { + "code": "predictive", + "display": "Predictive" + }, + { + "code": "relapse", + "display": "Relapse" + }, + { + "code": "staging-or-prognosis", + "display": "Staging or Prognosis" + }, + { + "code": "unknown", + "display": "Unknown" + } + ] + }, + { + "code": "reanalysis-test-request", + "display": "Reanalysis Test Request", + "concept": [ + { + "code": "change-in-presentation", + "display": "Change In Presentation" + }, + { + "code": "newly-affected-family-member", + "display": "Newly Affected Family Member" + }, + { + "code": "new-pregnancy", + "display": "New Pregnancy" + }, + { + "code": "new-treatment-clinical-management", + "display": "New Treatment/Clinical Management" + }, + { + "code": "recently-deceased-to-inform-family", + "display": "Recently Deceased To Inform Family" } - ] + ] + }, + { + "code": "other", + "display": "Other" + } + ] } \ No newline at end of file diff --git a/CodeSystem/CodeSystem-Genomics-test-associationReason.json b/CodeSystem/CodeSystem-Genomics-test-associationReason.json new file mode 100644 index 0000000..6f98d25 --- /dev/null +++ b/CodeSystem/CodeSystem-Genomics-test-associationReason.json @@ -0,0 +1,53 @@ +{ + "resourceType": "CodeSystem", + "id": "test-associationReason-genomics", + "url": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "version": "0.1.0", + "name": "TestAssociationReasonGenomics", + "title": "Test Association Reason Genomics", + "status": "draft", + "date": "2026-02-06T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ + { + "system": "email", + "value": "interoperabilityteam@nhs.net" + } + ] + } + ], + "description": "CodeSystem used for specifying the purposes for linking a primary genomic test to a subsequent or related test.", + "copyright": "Copyright © 2026+ NHS England Licensed under the Apache License, Version 2.0 (the \\\"License\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\"AS IS\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "caseSensitive": true, + "content": "complete", + "count": 6, + "concept": [ + { + "code": "reanalysis", + "display": "Re-analysis" + }, + { + "code": "reinterpretation", + "display": " Re-interpretation" + }, + { + "code": "retest", + "display": "Re-test" + }, + { + "code": "follow-on-test", + "display": "Follow on test" + }, + { + "code": "family-associated", + "display": "Family associated" + }, + { + "code": "germline-later", + "display": "Germline later" + } + ] +} \ No newline at end of file diff --git a/ValueSet/ValueSet-Genomics-reason-for-testing.json b/ValueSet/ValueSet-Genomics-reason-for-testing.json index dfe9d0f..64433d4 100644 --- a/ValueSet/ValueSet-Genomics-reason-for-testing.json +++ b/ValueSet/ValueSet-Genomics-reason-for-testing.json @@ -1,32 +1,201 @@ { - "resourceType": "ValueSet", - "id": "genomics-reasonfortesting", - "url": "https://fhir.nhs.uk/ValueSet/genomics-reasonfortesting", - "version": "0.2.0", - "name": "GenomicsReasonforTesting", - "title": "Genomics Reason for Testing", - "status": "draft", - "date": "2025-09-09T00:00:00.000Z", - "publisher": "NHS England", - "contact": [ + "resourceType": "ValueSet", + "id": "genomics-reasonfortesting", + "url": "https://fhir.nhs.uk/ValueSet/genomics-reasonfortesting", + "version": "0.3.0", + "name": "GenomicsReasonforTesting", + "title": "Genomics Reason for Testing", + "status": "draft", + "date": "2026-02-09T00:00:00.000Z", + "publisher": "NHS England", + "contact": [ + { + "name": "NHS England", + "telecom": [ { - "name": "NHS England", - "telecom": [ - { - "system": "email", - "value": "interoperabilityteam@nhs.net" - } - ] + "system": "email", + "value": "interoperabilityteam@nhs.net" } - ], - "description": "A ValueSet use to identify the reason for requesting a genomics test.", - "copyright": "Copyright © 2023+ NHS England Licensed under the Apache License, Version 2.0 (the \\\\\\\"License\\\\\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\\\\\"AS IS\\\\\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", - "compose": { - "include": [ - { - "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics", - "version": "0.2.0" - } - ] + ] } + ], + "description": "A Composite ValueSet of reasons for requesting or linking genomics test.", + "copyright": "Copyright © 2023+ NHS England Licensed under the Apache License, Version 2.0 (the \\\\\\\"License\\\\\\\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \\\\\\\"AS IS\\\\\\\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. HL7® FHIR® standard Copyright © 2011+ HL7 The HL7® FHIR® standard is used under the FHIR license. You may obtain a copy of the FHIR license at https://www.hl7.org/fhir/license.html.", + "compose": { + "include": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "version": "0.1.0" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "version": "0.1.0" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/clinical-utility-genomics", + "version": "0.1.0" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "version": "0.1.0" + } + ] + }, + "expansion": { + "identifier": "urn:uuid:3f2a1b9c-2d75-45cc-8ea3-2e747e4b61d4", + "timestamp": "2026-02-10T00:00:00Z", + "total": 30, + "contains": [ + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "sample-storage", + "display": "Sample storage" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "diagnostic", + "display": "Diagnostic" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "carrier", + "display": "Carrier" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "predictive", + "display": "Predictive" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "prenatal-diagnosis", + "display": "Prenatal diagnosis" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "family-member-to-aid-interpretation", + "display": "Family member to aid interpretation of a relative's result/variant" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "reanalysis", + "display": "Reanalysis" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "pharmacogenomics", + "display": "Pharmacogenomics" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/rare-diseaseTesting-genomics", + "code": "other", + "display": "Other" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "sample-storage", + "display": "Sample storage" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "diagnostic", + "display": "Diagnostic" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "differential-diagnosis", + "display": "Differential diagnosis" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "prognostic", + "display": "Prognostic" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "treatment-determining", + "display": "Treatment determining" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "disease-monitoring", + "display": "Disease monitoring" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "relapse-recurrence", + "display": "Relapse or recurrence" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "remission", + "display": "Remission" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "transformation", + "display": "Transformation" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "research-trial-eligibility", + "display": "Research or trial eligibility" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "pharmacogenomics", + "display": "Pharmacogenomics" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/cancer-testing-genomics", + "code": "other", + "display": "Other" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/clinical-utility-genomics", + "code": "patient-management", + "display": "Patient management" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/clinical-utility-genomics", + "code": "reproductive-decision-making", + "display": "Reproductive decision making" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/clinical-utility-genomics", + "code": "unaffected-relatives-seeking-predictive-testing", + "display": "Unaffected relatives seeking predictive testing" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "reanalysis", + "display": "Re-analysis" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "reinterpretation", + "display": "Re-interpretation" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "retest", + "display": "Re-test" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "follow-on-test", + "display": "Follow on test" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "family-associated", + "display": "Family associated" + }, + { + "system": "https://fhir.nhs.uk/CodeSystem/test-associationReason-genomics", + "code": "germline-later", + "display": "Germline later" + } + ] + } } \ No newline at end of file