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Merge branch 'main' of https://github.com/NHSDigital/NHSDigital-FHIR-Genomics-ImplementationGuide into Feature-IOPS-4001-Update-CodeSystem-mds-questiontag-genomics-to-align-with-MDS-v1.0.5
2 parents 1849126 + 7b79a8d commit db4c581

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{
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"resourceType": "CodeSystem",
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"id": "patient-role-genomics",
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"url": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics",
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"version": "0.1.0",
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"name": "PatientRoleGenomics",
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"title": "Patient Role Genomics",
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"status": "draft",
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"date": "2025-12-18T00:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
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"name": "NHS England",
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"telecom": [
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{
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"system": "email",
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"value": "interoperabilityteam@nhs.net",
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"use": "work",
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"rank": 1
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}
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]
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}
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],
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"description": "CodeSystem used to specify the role of the subject patient in the genomic test (proband vs consultand)",
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"copyright": "Copyright © 2025+ 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.",
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"caseSensitive": true,
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"content": "complete",
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"concept": [
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{
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"code": "proband",
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"display": "Proband",
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"definition": "The primary subject for the genomic testing"
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},
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{
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"code": "consultand",
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"display": "Consultand",
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"definition": "Family member"
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}
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]
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}

ConceptMap/ConceptMap-Genomics-condition-liquidtumourtype.json

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"version": "0.3.0",
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"name": "GenomicsConditionLiquidTumourType",
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"title": "Genomics Condition Liquid Tumour Type",
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"status": "draft",
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"date": "2025-09-05T11:00:00.000Z",
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"status": "retired",
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"date": "2026-01-13T11:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
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{
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"resourceType": "StructureDefinition",
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"id": "Extension-Genomic-Patient-Role",
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"url": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role",
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"version": "0.1.0",
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"name": "ExtensionGenomicPatientRole",
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"title": "Extension Genomic Patient Role",
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"status": "draft",
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"date": "2025-12-17",
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"publisher": "NHS England",
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"contact": [
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{
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"name": "NHS England",
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"telecom": [
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{
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"system": "email",
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"value": "interoperabilityteam@nhs.net",
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"use": "work",
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"rank": 1
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}
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]
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}
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],
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"description": "An Extension used to identify the role of the patient (ServiceRequest.subject) in a genomic test (e.g. either as proband or consultand).",
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"purpose": "This is a use case from Genomics, used to record the role of the patient (ServiceRequest.subject) in a genomic test .",
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"copyright": "Copyright © 2025+ 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.",
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"fhirVersion": "4.0.1",
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"kind": "complex-type",
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"abstract": false,
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"context": [
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{
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"type": "element",
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"expression": "ServiceRequest"
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}
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],
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"type": "Extension",
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"baseDefinition": "http://hl7.org/fhir/StructureDefinition/Extension",
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"derivation": "constraint",
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"differential": {
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"element": [
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{
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"id": "Extension",
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"path": "Extension",
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"max": "1"
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},
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{
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"id": "Extension.extension",
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"path": "Extension.extension",
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"max": "0"
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},
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{
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"id": "Extension.url",
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"path": "Extension.url",
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"fixedUri": "https://fhir.nhs.uk/England/StructureDefinition/Extension-Genomic-Patient-Role"
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},
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{
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"id": "Extension.value[x]",
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"path": "Extension.value[x]",
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"short": "An Extension used to identify the role of the subject patient in the genomic test (proband vs consultand)",
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"min": 1,
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"type": [
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{
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"code": "CodeableConcept"
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}
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],
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"binding": {
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"strength": "required",
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"valueSet": "https://fhir.nhs.uk/ValueSet/genomics-patient-role"
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}
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}
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]
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}
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}
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{
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"resourceType": "ValueSet",
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"id": "genomics-patient-role",
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"url": "https://fhir.nhs.uk/ValueSet/genomics-patient-role",
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"version": "0.1.0",
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"name": "GenomicsPatientRole",
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"title": "Genomics Patient Role",
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"status": "draft",
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"date": "2025-12-18T00:00:00.000Z",
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"publisher": "NHS England",
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"contact": [
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{
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"name": "NHS England",
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"telecom": [
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{
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"system": "email",
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"value": "interoperabilityteam@nhs.net",
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"use": "work",
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"rank": 1
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}
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]
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}
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],
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"description": "A ValueSet used to identify the role of the subject patient in the genomic test (proband vs consultand)",
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"copyright": "Copyright © 2025+ 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.",
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"compose": {
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"include": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics",
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"version": "0.1.0"
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}
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]
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},
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"expansion": {
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"timestamp": "2025-12-18T00:00:00Z",
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"total": 2,
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"offset": 0,
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"contains": [
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{
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"system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics",
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"code": "proband",
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"display": "Proband"
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},
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{
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"system": "https://fhir.nhs.uk/CodeSystem/patient-role-genomics",
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"code": "consultand",
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"display": "Consultand"
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}
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]
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}
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}

fhirpkg.lock.json

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{
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"updated": "2025-10-21T09:54:09.9912765+01:00",
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"updated": "2025-12-17T17:33:35.7803726+00:00",
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"dependencies": {
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"fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
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"hl7.fhir.r4.core": "4.0.1",
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"hl7.fhir.r5.core": "5.0.0",
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"hl7.fhir.uv.genomics-reporting": "3.0.0-ballot",
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"hl7.terminology.r4": "5.3.0",
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"hl7.fhir.uv.extensions.r4": "1.0.0",
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"hl7.fhir.uv.ips": "1.1.0",
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"fhir.dicom": "2022.4.20221006",
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"hl7.fhir.eu.laboratory": "0.1.0-ballot",
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"fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
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"ihe.iti.pcf": "1.0.0-comment",
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"hl7.fhir.r4b.core": "4.3.0",
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"us.nlm.vsac": "0.9.0",
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"ihe.iti.balp": "1.1.1"
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"ihe.iti.balp": "1.1.1",
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"hl7.terminology.r4": "6.5.0",
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"hl7.fhir.uv.extensions.r4": "5.2.0"
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},
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"missing": {}
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}

package.json

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"description": "FHIR Genomics Implementation Guide",
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"author": "nhsdigital",
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"dependencies": {
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"fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
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"hl7.fhir.r4.core": "4.0.1",
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"hl7.fhir.uv.genomics-reporting": "3.0.0-ballot",
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"hl7.fhir.uv.ips": "1.1.0",
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"hl7.fhir.eu.laboratory": "0.1.0-ballot",
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"fhir.r4.ukcore.stu3.currentbuild": "0.24.0-pre-release",
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"ihe.iti.pcf": "1.0.0-comment"
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},
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"fhirVersions": [

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